Pigmentation disorders are conditions that affect the production or distribution of melanin, the pigment responsible for skin, hair, and eye color, leading to changes in the color of these bodily features.
A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached.
Coloration or discoloration of a part by a pigment.
Coloration of the skin.
Insoluble polymers of TYROSINE derivatives found in and causing darkness in skin (SKIN PIGMENTATION), hair, and feathers providing protection against SUNBURN induced by SUNLIGHT. CAROTENES contribute yellow and red coloration.

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness. (1/348)

Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities. Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF). MITF plays a critical role in the development of both neural-crest-derived melanocytes and optic cup-derived retinal pigmented epithelium (RPE); the loss of a functional Mitf in mice results in complete absence of all pigment cells, which in turn induces microphthalmia and inner ear deafness. The black-eyed white Mitf mi-bw homozygous mouse normally has a pigmented RPE but lacks melanocytes essential for the pigmentation of the body and hearing. We show here that Mitf mi-bw is caused by an insertion into intron 3 of a 7.2 kb novel L1 element, L1bw, which belongs to an actively retrotransposing TF subfamily. The L1bw insertion reduces the amount of mRNAs for two Mitf isoforms, Mitf-A and Mitf-H, by affecting their overall expression levels and pre-mRNA splicing patterns, while it abolishes mRNA expression of another isoform, Mitf-M, which is specifically expressed in neural-crest-derived melanocytes. The consequence of the L1 insertion in the black-eyed white Mitf mi-bw mouse is that the developmental programme for RPE cells proceeds normally, most likely because of the presence of residual, full-length Mitf-A and Mitf-H proteins, whereas the lack of Mitf-M results in loss of the melanocyte population. The results suggest that melanocyte development depends critically on a single Mitf isoform, Mitf-M, and raise the possibility that specific mutations affecting MITF-M, the human equivalent of Mitf-M, may be responsible for a subset of WS2 conditions.  (+info)

A case of melanonychia caused by Exophiala dermatitidis. (2/348)

We report a case of a healthy 61-year-old woman with discoloration of the nail on her right big toe. We first treated her with topical steroid and urea under suspected diagnosis of nail eczema, but the lesion remained. In culture, black, shiny, pasty and yeast-like colonies grew repeatedly. Examination of debris from her nail showed dematiaceous spherical cells and hyphal elements. Microscopically, annelloconidia were produced at the apical ends of anellidic conidiogenous cells. This colony grew at 40C. Mitochondrial DNA restriction fragment length polymorphism was analysed in this strain and its restriction pattern confirmed the isolate to be Exophiala dermatitidis. Based on these findings, we diagnosed this nail deformity as fungal melanonychia due to Exophiala dermatitidis. This is the third reported case of this disease.  (+info)

Altered gene expression in melanocytes exposed to 4-tertiary butyl phenol (4-TBP): upregulation of the A2b adenosine receptor 1. (3/348)

Exposure to phenolic agents contributes to the development of occupational vitiligo. Proposed as a causative factor for leukoderma in vivo, the para-substituted phenol 4-tertiary butyl phenol was chosen to investigate early cellular events responsible for selective disappearance of melanocytes from the epidermis of individuals sensitive to such agents. To this end, differential display of melanocyte mRNA isolated from three separate cultures was performed following a 12 h exposure of cells to 250 microM 4-tertiary butyl phenol or to vehicle alone. Fragments of cDNA representing differentially expressed messages were cloned and subsequently confirmed by reverse dot blotting. Alignment analysis revealed that the L30 ribosomal protein was upregulated by the treatment, potentially reflecting altered levels of protein synthesis in response to stress. In addition, a gene sequence upregulated following exposure to 4-tertiary butyl phenol was identified as the A2b receptor (a P1 receptor for adenosine). Differential expression of this gene was confirmed in an RNase protection assay. By reverse transcription-polymerase chain reaction, the gene was shown to be expressed in keratinocytes and fibroblasts as well. Flow cytometry confirmed differential expression in melanocytes and fibroblasts, but not in keratinocytes. Interestingly, it has been reported that P1 purinoceptor stimulation can induce apoptosis. This is in concordance with results reported elsewhere demonstrating induction of apoptosis by 4-tertiary butyl phenol in human melanocytes, as well as with morphologic changes observed in this study in cells exposed to 250 microM 4-tertiary butyl phenol for 72 h. In conclusion, differential display is useful to establish melanocyte components involved in the cellular response to phenolic agents.  (+info)

Epidemic dropsy in India. (4/348)

Epidemic dropsy is a clinical state resulting from use of edible oils adulterated with Argemone mexicana oil. Sanguinarine and dehydrosanguinarine are two major toxic alkaloids of Argemone oil, which cause widespread capillary dilatation, proliferation and increased capillary permeability. Leakage of the protein-rich plasma component into the extracellular compartment leads to the formation of oedema. The haemodynamic consequences of this vascular dilatation and permeability lead to a state of relative hypovolemia with a constant stimulus for fluid and salt conservation by the kidneys. Illness begins with gastroenteric symptoms followed by cutaneous erythema and pigmentation. Respiratory symptoms such as cough, shortness of breath and orthopnoea progressing to frank right-sided congestive cardiac failure are seen. Mild to moderate anaemia, hypoproteinaemia, mild to moderate renal azotemia, retinal haemorrhages, and glaucoma are common manifestations. There is no specific therapy. Removal of the adulterated oil and symptomatic treatment of congestive cardiac failure and respiratory symptoms, along with administration of antioxidants and multivitamins, remain the mainstay of treatment. Selective cultivation of yellow mustard, strict enforcement of the Indian Food Adulteration Act, and exemplary punishment to unscrupulous traders are the main preventive measures.  (+info)

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. (5/348)

We have identified a four-generation family with 10 affected females manifesting one or more of the following features: osseous dysplasia involving the metacarpals, metatarsals, and phalanges leading to brachydactyly, camptodactyly, and other digital deformities; pigmentary defects on the face and scalp; and multiple frenula. There were no affected males. We performed X-inactivation studies on seven affected females, using a methylation assay at the androgen receptor locus; all seven demonstrated preferential inactivation of their maternal chromosomes carrying the mutation, and two unaffected females showed a random pattern. These findings indicate that this disorder is linked to the X chromosome. To map the gene for this disorder, we analyzed DNA from nine affected females and five unaffected individuals, using 40 polymorphic markers evenly distributed throughout the X chromosome. Two-point and multipoint linkage analyses using informative markers excluded most of the X chromosome and demonstrated linkage to a region on the long arm between DXS548 and Xqter. A maximum LOD score of 3.16 at recombination fraction 0 was obtained for five markers mapping to Xq27.3-Xq28. The mapping data should facilitate the identification of the molecular basis of this disorder.  (+info)

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito. (6/348)

We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha thalassaemia trait, and his half brother, who also had TSC, may have suffered additionally from polycystic kidney disease (PKD). FISH studies provided evidence for a familial translocation t(8;16)(q24.3;p13.3) with an unbalanced form in the proband and a balanced form in the father and in a paternal aunt. The unbalanced translocation caused the index patient to be deleted for the chromosome 16p13.3-pter region, with the most proximal breakpoint described to date for terminal 16p deletions. In addition, FISH analysis showed a duplication for the distal 8q region. Since the index patient also had hypomelanosis of Ito (HI), either of the chromosomal areas involved in the translocation may be a candidate region for an HI determining gene. Furthermore, it is noteworthy that both carriers of the balanced translocation showed a nodular goitre, while the proband has hypothyroidism.  (+info)

Problematic pigmented lesions: approach to diagnosis. (7/348)

A number of pigmented lesions are difficult to classify and raise the possibility of a melanoma diagnosis. Care should be exercised to exclude non-melanocytic lesions, and benign melanocytic entities, both of which can mimic melanoma histologically. In addition, the possibility of the lesion being a melanoma variant or epidermotropic metastasis should be considered. There will still be some cases that are difficult to resolve. These usually fall into one of three categories: atypical junctional melanocytic lesion versus early melanoma; naevus versus naevoid melanoma; and atypical Spitz, cellular blue, and deep penetrating naevi versus thick melanoma. These will pose problems even for experts. The atypical Spitz lesions are perhaps the most important category because they tend to be from younger individuals, the differential diagnosis is thick melanoma, and there is no single discriminating histological feature.  (+info)

A quantitative evaluation of pigmented skin lesions using the L*a*b* color coordinates. (8/348)

The evaluation of pigmentary skin lesions by clinical doctors has been based on subjective and qualitative judgements. Observations have mostly relied on visual inspection, making the effects of treatment difficult to evaluate with any precision. For this reason there is a real need for an objective method to evaluate prognosis after treatment. Recent scientific measurements such as reflectance spectrophotometry and reflectance colorimetry have provided accurate quantitative color information about skin lesions, but these techniques are costly and difficult to apply in the clinical field. The purpose of this study was to develop a simple and cost-effective way of evaluating treatment results. We have developed a software program using the L*a*b* color coordinate system to quantify the effect of treatment and have successfully demonstrated its clinical usefulness. Our method compares the relative color difference between normal skin and skin lesions before and after treatment, instead of measuring the absolute color of skin lesions. The accuracy of our quantitative color analysis was confirmed by the simulated images of hemangioma and ota nevus. Clinical efficacy was also confirmed through a blind test involving 3 clinicians who were asked to grade the treatment effects of 13 cases of hemangioma and 7 cases of ota nevus. These subjective clinical grades correlated well with the treatment results obtained using the proposed color analysis system (Correlation coefficient = 0.84).  (+info)

Pigmentation disorders are conditions that affect the production or distribution of melanin, the pigment responsible for the color of skin, hair, and eyes. These disorders can cause changes in the color of the skin, resulting in areas that are darker (hyperpigmentation) or lighter (hypopigmentation) than normal. Examples of pigmentation disorders include melasma, age spots, albinism, and vitiligo. The causes, symptoms, and treatments for these conditions can vary widely, so it is important to consult a healthcare provider for an accurate diagnosis and treatment plan.

Vitiligo is a medical condition characterized by the loss of pigmentation in patches of skin, resulting in irregular white depigmented areas. It's caused by the destruction of melanocytes, the cells responsible for producing melanin, which gives our skin its color. The exact cause of vitiligo is not fully understood, but it's thought to be an autoimmune disorder where the immune system mistakenly attacks and destroys melanocytes. It can affect people of any age, gender, or ethnicity, although it may be more noticeable in people with darker skin tones. The progression of vitiligo is unpredictable and can vary from person to person. Treatment options include topical creams, light therapy, oral medications, and surgical procedures, but the effectiveness of these treatments varies depending on the individual case.

Pigmentation, in a medical context, refers to the coloring of the skin, hair, or eyes due to the presence of pigment-producing cells called melanocytes. These cells produce a pigment called melanin, which determines the color of our skin, hair, and eyes.

There are two main types of melanin: eumelanin and pheomelanin. Eumelanin is responsible for brown or black coloration, while pheomelanin produces a red or yellow hue. The amount and type of melanin produced by melanocytes can vary from person to person, leading to differences in skin color and hair color.

Changes in pigmentation can occur due to various factors such as genetics, exposure to sunlight, hormonal changes, inflammation, or certain medical conditions. For example, hyperpigmentation refers to an excess production of melanin that results in darkened patches on the skin, while hypopigmentation is a condition where there is a decreased production of melanin leading to lighter or white patches on the skin.

Skin pigmentation is the coloration of the skin that is primarily determined by two types of melanin pigments, eumelanin and pheomelanin. These pigments are produced by melanocytes, which are specialized cells located in the epidermis. Eumelanin is responsible for brown or black coloration, while pheomelanin produces a red or yellow hue.

The amount and distribution of melanin in the skin can vary depending on genetic factors, age, sun exposure, and various other influences. Increased production of melanin in response to UV radiation from the sun helps protect the skin from damage, leading to darkening or tanning of the skin. However, excessive sun exposure can also cause irregular pigmentation, such as sunspots or freckles.

Abnormalities in skin pigmentation can result from various medical conditions, including albinism (lack of melanin production), vitiligo (loss of melanocytes leading to white patches), and melasma (excessive pigmentation often caused by hormonal changes). These conditions may require medical treatment to manage or improve the pigmentation issues.

Melanin is a pigment that determines the color of skin, hair, and eyes in humans and animals. It is produced by melanocytes, which are specialized cells found in the epidermis (the outer layer of the skin) and the choroid (the vascular coat of the eye). There are two main types of melanin: eumelanin and pheomelanin. Eumelanin is a black or brown pigment, while pheomelanin is a red or yellow pigment. The amount and type of melanin produced by an individual can affect their skin and hair color, as well as their susceptibility to certain diseases, such as skin cancer.

ISBN 978-0-323-54753-6. "MedlinePlus: Skin Pigmentation Disorders". "Introduction: Pigment Disorders: Merck Manual Home Edition ... Pigmentation disorders are disturbances of human skin color. There may be a loss or reduction, which may be related to loss of ... Most pigmentation disorders involve the underproduction or overproduction of melanin. James, William D.; Elston, Dirk; Treat, ... Disturbances of pigmentation". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. pp. 862-880 ...
"Common pigmentation disorders". American Family Physician. 79 (2): 109-16. PMID 19178061. Listernick, Robert; Charrow, Joel ( ... In other disorders, the spots can be less ovoid, with jagged borders. In Neurofibromatosis Type 1, the spots tend to resemble ... The number of spots can have clinical significance for diagnosis of associated disorders such as Neurofibromatosis type I. Six ...
Disorders of oral pigmentation:Medscape (CS1 Polish-language sources (pl), CS1 errors: missing periodical, Wikipedia articles ... "Disorders of Oral Pigmentation: Background, Pathophysiology, Epidemiology". August 2018. {{cite journal}}: Cite journal ... The patterns of pigmentation are very similar to those with Addison's. The management of these depend on the severity and can ... Oral pigmentation affects about 3% of the population and is most likely seen in those with dark skin; however, people with ...
Pigmentations. Albinism 793..........................................Congenital disorders of the skin. Nevi. Moles 138 ... Diseases of the nervous system Including speech disorders 435-571...............................................Psychiatry 475- ... Bedsores 701-751...................................Diseases due to psychosomatic and nerve disorders. Dermatoneuroses 760-785 ... Personality disorders. Behavior problems Including sexual problems, drug abuse, suicide, child abuse 569.7-571 ...
Fritz K, Salavastru C (2020). "[Laser treatment of pigmentation disorders]". Der Hautarzt; Zeitschrift für Dermatologie, ... Correcting skin pigmentation can be done through a variety of methods including the use of makeup, dermabrasion, or laser ... This pigmentation usually occurs along the milk lines, which are the precursors to breast and nipple development. Clinically, ... Consequently, treatments using drugs with anti-androgenic properties have shown efficacy in reducing the pigmentation. ...
... disorders of pigmentation such as vitiligo; and bullous diseases such as pemphigus, pemphigoid, and epidermolysis bullosa. ... and clinical research in autoimmune and arthritis-related chronic disorders. These disorders include the adult diseases of ... Other studies encompass acne and the physiologic activity of the sebaceous glands, as well as disorders of the hair, such as ... Additionally, the programs support studies focused on the natural history of these disorders, as well as molecular mechanisms ...
DSP Skin/hair/eye pigmentation 9, dark/light hair; 611742; ASIP Slowed nerve conduction velocity, AD; 608236; ARHGEF10 Small ... CTDP1 Congenital disorder of glycosylation, type Ia; 212065; PMM2 Congenital disorder of glycosylation, type Ic; 603147; ALG6 ... ALG3 Congenital disorder of glycosylation, type Ie; 608799; DPM1 Congenital disorder of glycosylation, type If; 609180; MPDU1 ... ALG12 Congenital disorder of glycosylation, type Ih; 608104; ALG8 Congenital disorder of glycosylation, type Ii; 607906; ALG2 ...
Light-related diseases and disorders of pigmentation". Clinical dermatology : a color guide to diagnosis and therapy (Sixth ed ... In the United States, whilst one-quarter of people being investigated for a photosensitivity disorder were diagnosed with PLE, ... Photodermatologic Disorders". Dermatology (Fourth ed.). [Philadelphia, Pa.] pp. 1548-1568. ISBN 9780702063428. OCLC 1011508489 ...
Kumar S, Rao K (May 2012). "Waardenburg syndrome: A rare genetic disorder, a report of two cases". Indian Journal of Human ... Its symptoms include deafness, minor defects, and abnormalities in pigmentation. Mutations in the MITF gene have been found in ... is a congenital disorder often characterized by deafness and leucism. Tietz is caused by a mutation in the MITF gene. The ... microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders ...
Genetic disorders may be grouped into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects ... Kernicterus causes yellow pigmentation of the skin, brain damage, and deafness. Petechaie is when the capillaries bleed ... Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional ... structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist ...
... is a type of pigmentation disorder of the skin. It is characterized by dark and light ... Disturbances of pigmentation". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. pp. 865-866 ... Both autosomal dominant and recessive inheritance have been reported with the disorder. It has been associated with mutations ... Disturbances of human pigmentation, All stub articles, Genodermatoses stubs). ...
All four subtypes are characterized by hearing loss, eye abnormalities and pigmentation disorders. In addition, WS1 is ... Kubic JD, Young KP, Plummer RS, Ludvik AE, Lang D (2008). "Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte ... which consists of four autosomal dominant genetic disorders (WS1, WS2, WS3 and WS4). Of the four subtypes, WS1 and WS3 are ...
Eating disorders are a psychological problem which has an impact on the gastrointestinal tract. Two common eating disorders are ... Skin pigmentation have increased deposition in the palmer skin creases, nails and gingiva. Management of Addison's is with ... Eating disorder oral manifestation is severe palatal erosion due to vomiting. There is occlusal erosion of the maxillary teeth ... Extra-orally eating disorders may present with swollen parotid glands. Other oral manifestations of GI disease is angular ...
... is a type of pigmentation disorder of the skin. It presents with coloured freckle-like ... Disturbances of pigmentation: Reticulate acropigmentation of Kitamura". Andrews' Diseases of the Skin: Clinical Dermatology ( ... Disturbances of human pigmentation, All stub articles, Cutaneous condition stubs). ...
Apparent blindness may also be a clinical sign of the disorder, but is not seen in every case. Although they do have a sucking ... Bellone RR (10 November 2010). "Pleiotropic effects of pigmentation genes in horses". Animal Genetics. 41 (s2): 100-110. doi: ... "Genetic Disorders in Arabian Horses" Current Research Projects. 'World Arabian Horse Organization, September 2008. Page, P; ... Arabians of "Egyptian" bloodlines have the most documented cases of the disorder, with 10.3% of Egyptian Arabians being ...
Abdallat, A.; Davis, S. M.; Farrage, J.; McDonald, W. I. (1980). "Disordered pigmentation, spastic paraparesis and peripheral ... Autosomal recessive disorders, Syndromes affecting the skin, Genetic disorders with OMIM but no gene, Syndromes affecting the ... Clinical presentation is as follows: Albinism (hair) Irregular decreased skin pigmentation Excessive freckling Insensitivity to ...
... common pigmentation disorders in southern Africa". South African Medical Journal. 103 (12): 984-988-988. doi:10.7196/SAMJ.7046 ... Albinism is also associated with vision problems, and apparent lack of pigmentation makes persons with albinism susceptible to ...
Magna, P. (January 2014). "Biology and genetics of Oculocutaneous albinism and vitiligo-common pigmentation disorders in ... Autosomal recessive disorders, Dermatologic terminology, Disturbances of human pigmentation, Human skin color). ... except in the case of non-OCA disorders. Such disorders cause other medical problems in conjunction with albinism, and may be ... patchy loss of dermal pigmentation Xanthochromism and axanthism, unusually yellow pigmentation and lack of yellow pigment, ...
Additionally, tattoos are used in skin tones to cover vitiligo, a skin pigmentation disorder. SS blood group tattoos (German: ... Tattoos are strongly empirically associated with deviance, personality disorders and criminality. Although the general ...
Abdallat A, Davis SM, Farrage J, McDonald WI (1980). "Disordered pigmentation, spastic paraparesis and peripheral neuropathy in ...
M Markus, G Kloss, I Kusch: Disordered waves in an homogeneous, motionless excitable medium. In: Nature. 371 (1994), pp. 402- ... I. Kusch, M. Markus: Mollusc shell pigmentation: cellular automaton simulations and evidence for undecidability. In: Journal of ... M. Markus, G. Kloss, I. Kusch: Disordered waves in an homogeneous, motionless excitable medium. In: Nature. 371 (1994), S. 402- ...
Pigmentation is usually black friable mucosa.[citation needed] The disorder is extremely rare, as only 89 patients over a span ... The symptoms vary from the severity of the disorder. The most classic sign of AEN is the dark pigmentation of esophageal mucosa ... Specific study of the disorder's mortality rate is mentioned at 31.8%, but new research suggests mortality rates vary from 30- ... An esophagectomy can be issued if the disorder is severe enough. The prognosis for acute esophageal necrosis is generally poor ...
An albino is an organism with the disorder albinism - the congenital lack of normal pigmentation. Albino may also refer to: ...
Pigmentation process maybe affected in one or many ways due to mutations. Abnormal pigmentation maybe at the level of ... Amino acid metabolism disorders, X-linked recessive disorders, Eye diseases). ... All these symptoms are due to lack of pigmentation of the retina. Moreover, in an ocular albino eye, nerves from back of the ... An ocular albino eye appears blueish pink in color with no pigmentation at all unlike a normal eye. Carrier women have regions ...
His name is associated with the following disorders: "Minkowski-Chauffard disease": Congenital hemolytic anemia with ... Named with Oskar Minkowski (1858-1931). "Troisier-Hanot-Chauffard syndrome": Hypertrophic cirrhosis with skin pigmentation and ...
Hirschsprung's disease - a bowel disorder associated with heterochromia in the form of a sector hypochromia. The affected ... Ocular melanosis - a condition characterized by increased pigmentation of the uveal tract, episclera, and anterior chamber ... Piebaldism - similar to Waardenburg's syndrome, a rare disorder of melanocyte development characterized by a white forelock and ... Oculodermal melanocytosis (nevus of Ota) Pigment dispersion syndrome - a condition characterized by loss of pigmentation from ...
... is a cutaneous disorder of hyperpigmentation characterized by reticulated pigmentation of the person's skin. A ... v t e (Articles with short description, Short description matches Wikidata, Disturbances of human pigmentation, Genodermatoses ...
... is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It ... Mutant alleles are known to cause hypo-pigmentation and pink eye phenotypes, as well reduced growth, jerky gait, male sterility ... Branicki W, Brudnik U, Wojas-Pelc A (March 2009). "Interactions between HERC2, OCA2 and MC1R may influence human pigmentation ... The ancestral allele is linked to darker pigmentation and dominant over the lighter pigment recessive allele. The rs12913832 ...
Her research usually focuses on ethnic skin and hair, pigmentation disorders, as well as HIV and skin. She is known to have ...
"Albinism, Ocular Type 1 , Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2021-04-01. Winship, Ingrid M.; ... absent pigmentation in the eye (HPO ID: 0000505) Although symptoms vary between individuals, the signs and symptoms mentioned ... "Albinism, Ocular Type 1 , Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2021-04-01. Lewis, RA (2015-11-19 ... Orphaned articles from November 2021, All orphaned articles, Albinism, Amino acid metabolism disorders, X-linked recessive ...
ISBN 978-0-323-54753-6. "MedlinePlus: Skin Pigmentation Disorders". "Introduction: Pigment Disorders: Merck Manual Home Edition ... Pigmentation disorders are disturbances of human skin color. There may be a loss or reduction, which may be related to loss of ... Most pigmentation disorders involve the underproduction or overproduction of melanin. James, William D.; Elston, Dirk; Treat, ... Disturbances of pigmentation". Andrews Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. pp. 862-880 ...
Read about skin pigmentation disorders, which affect the color of your skin. It could be too light or too dark, in certain ... Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment ... The primary NIH organization for research on Skin Pigmentation Disorders is the National Institute of Arthritis and ... Some pigmentation disorders affect just patches of skin. Others affect your entire body. ...
... to complex medical disorders, such as Peutz-Jeghers syndrome. ... Oral pigmentation is a relatively common condition that may ... encoded search term (Disorders of Oral Pigmentation) and Disorders of Oral Pigmentation What to Read Next on Medscape ... Physiologic pigmentation. Physiologic pigmentation, also known as racial or ethnic pigmentation, is an increased production of ... Physiologic pigmentation. Physiologic pigmentation, also known as racial pigmentation, is the increased production of melanin ...
Skin pigmentation disorders affect many people. Find out more from Cleveland Clinic about the different types of birthmarks and ... Pigmentation: Abnormal Pigmentation. Birthmarks and other pigmentation disorders affect many people. Some of the most common ... Skin pigmentation disorders. Albinism. Albinism, an inherited disorder, is caused by the absence of the pigment melanin, and ... Birthmarks and other skin pigmentation (coloration) disorders affect many people. Some of the most common problems are listed ...
... to complex medical disorders, such as Peutz-Jeghers syndrome. ... Oral pigmentation is a relatively common condition that may ... encoded search term (Disorders of Oral Pigmentation) and Disorders of Oral Pigmentation What to Read Next on Medscape ... Physiologic pigmentation. Physiologic pigmentation, also known as racial or ethnic pigmentation, is an increased production of ... Physiologic pigmentation. Physiologic pigmentation, also known as racial pigmentation, is the increased production of melanin ...
What are skin pigmentation disorders?. Skin pigmentation disorders like the hue of your skin. Your skin gets its hue engage a ... Skin Pigmentation Disorders An Overview. Skin pigmentation disorders can be localized or widespread and the changes they owing ... ant: gay pigmentation disorders like exact patches of skin.. What causes a pigment disorder?. Skin layers and melanin Vitiligo ... What determines skin pigmentation?. Coloration (pigmentation) is determined by the reach of melanin in the skin. Without ...
... Pigmentation is the coloring of a persons skin. In the case of illness or injury, the persons skin ... Pigmentation loss may also occur as a result of skin damage from an infection, blisters, burns, or other trauma. ... rare inherited disorder caused by the absence of an enzyme that produces melanin and results in a complete lack of pigmentation ... One example is vitiligo, an autoimmune disorder in which the pigment-producing cells are damaged. Another example is albinism, ...
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Visit Our What Are Skin Pigmentation Disorders? Page To Learn More! Call Us At (770) 250-7199 To Schedule A Visit Or If You ... people often deal with skin pigmentation disorders. These disorders may impact just the face or the body, or they may impact ... Heres what you should know about skin pigmentation disorders and how a dermatologist can help. ... This rare disorder results in a lack of melanin in the hair, skin, and eyes. This is why albinos are often very pale with light ...
... to complex medical disorders, such as Peutz-Jeghers syndrome. ... Oral pigmentation is a relatively common condition that may ... encoded search term (Disorders of Oral Pigmentation) and Disorders of Oral Pigmentation What to Read Next on Medscape ... Disorders of Oral Pigmentation Differential Diagnoses. Updated: Jan 09, 2014 * Author: Talib Najjar, DMD, MDS, PhD; Chief ... Pigmentation in vitamin B12 deficiency masquerading Addisons pigmentation: A rare presentation. Indian J Endocrinol Metab. ...
Melanin is the brownish pigment responsible for the color of skin, hair, and the iris of the eyes. It is produced by melanocytes. Most people have similar numbers of melanocytes, and the wide range of color shades of human skin is due to the amount of melanin that is produced rather than the number of melanocytes. There are different subtypes of melanin, the main ones in the skin being
DISORDERS OF PIGMENTATION: Hyperpigmentation Disorder of Pigmentation Hyperpigmentation Hypopigmentation Localized Discrete ...
Living with Disorders of skin pigmentation? Find your support network here. ... Join Alike Healths leading online community for Disorders of skin pigmentation patients. Dive into shared experiences, stories ... 257 Alikes with Disorders of skin pigmentation. Learn from others who are experiencing Disorders of skin pigmentation.. 4.7 ... Disorders of skin pigmentation Community. Engage with real patients by Alike app users and gain insights from their experiences ...
... to complex medical disorders, such as Peutz-Jeghers syndrome. ... Oral pigmentation is a relatively common condition that may ... encoded search term (Disorders of Oral Pigmentation) and Disorders of Oral Pigmentation What to Read Next on Medscape ... Disorders of Oral Pigmentation. Updated: Jan 09, 2014 * Author: Talib Najjar, DMD, MDS, PhD; Chief Editor: William D James, MD ... Oral pigmentation due to intrinsic processes. Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by ...
Causes of Skin Pigmentation Disorders. Alright, lets dive into what actually causes these pesky skin pigmentation disorders. ... Hi there! Lets dive into the fascinating world of skin pigmentation disorders. So, what exactly are these disorders? Well, ... Ive got the 411 on Skin Pigmentation Disorders!. Hey there folks, after exploring the ins and outs of skin pigmentation ... Treatments for Skin Pigmentation Disorders. Hey there, folks! Now were getting into the good stuff! Lets talk about some ...
Hearing disorders[edit]. Pigmentation disorders such as albinism are occasionally associated with hearing impairments in mice, ... "NORD (National Organization for Rare Disorders). Retrieved June 23, 2020.. *^ Gunnarsson, Ulrika; Hellström, Anders R.; Tixier- ... Related pigment disorders[edit]. In some animals, albinism-like conditions may affect other pigments or pigment-production ... Some definitions are too broad to be of much use, e.g. "an animal or plant with a marked deficiency in pigmentation".[15] ...
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Follicular disorder, unspecified. L81.9. Disorder of pigmentation, unspecified. L85.3. Xerosis cutis. L93. Lupus erythematosus ...
Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with ... Pigmentation Disorders / diagnosis* * Waardenburg Syndrome / classification * Waardenburg Syndrome / diagnosis* * Waardenburg ... Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with ...
Disorders of pigmentation. *Livedoid vasculitis. *Leg ulcers and cutaneous ulcerations. Mayo Clinic locations. Phoenix, Arizona ...
Oakley A. (2014). Pigmentation disorders.. https://www.dermnetnz.org/topics/pigmentation-disorders/. ... This autoimmune disorder causes your skin to produce new cells at an accelerated rate. Resulting silver and red patches may ... www.merckmanuals.com/home/skin-disorders/pigment-disorders/overview-of-skin-pigment. ... Skin pigmentation disorders. (2017).. https://medlineplus.gov/skinpigmentationdisorders.html. *. Tinea versicolor. (n.d.).. ...
Pigmentation Disorders Treatment Landscape: Exploring Forecasts, Therapies, and Key Market Trends The prospect for treatments ... amongst pigmentation disorders is poised for a positive and growth-oriented trajectory. This refers to a range of ... Pompe disease, also known as glycogen storage disease type II, is a rare, genetically inherited disorder with a broad spectrum ... Increased global prevalence of these disorders and more advanced diagnostic modalities are expected to drive... ...
This article reports the first case of pigmentation disorders in the Fringe-lipped Bat Trachops cirrhosus (Spix, 1823) ( ... Piebaldism is a genetic pigmentation disorder, which is caused by absence of melanocytes in parts of the skin and/or hair ...
Light-related diseases and disorders of pigmentation. In: Dinulos JGH, ed. Habifs Clinical Dermatology: A Color Guide to ... Porphyria (an inherited disorder that causes rashes, blistering, and scarring of the skin) ...
Postmarketing reports: Angioneurotic edema, pigmentation disorder[Ref]. Hematologic. Rare (0.01% to 0.1%): Decreased platelet ... psychotic disorders, restlessness, sleep disorder, sleep disturbance, suicidal attempt, suicide ideation, tension, vivid dreams ... Reversible vision disorders (e.g., diplopia) may occur, especially in long-term treatment and/or at high doses.[Ref] ... Rare (0.01% to 0.1%): Pigmentation changes, pruritus, rash/skin rash, transient hair loss, urticaria ...
Mutations associated with oculocutaneous albinism disorder affect IOCA2. OCA2 shares little homology with known chloride ... OCA2 is required for Imelano and pigmentation.. (A) Representative images of Oa1−/− melanocytes expressing scrambled or OCA2- ... Pigmentation was restored by transfection with mCherry-tagged WT OCA2, but not with the mCherry-tagged V443I mutant (scale bar ... 2014) Ion transport in pigmentation Archives of Biochemistry and Biophysics 563C:35-41. ...
Part II: Differences in clinical presentation and disparities in cutaneous disorders in skin of color J Am Acad Dermatol. 2022 ... The second part of this CME highlights clinical differences in the phenotypic presentation of the inflammatory disorders of ... Variations in genetics, biology, and phenotype of cutaneous disorders in skin of color. ... and immunophenotypic differences in SOC in common inflammatory disorders as well as cutaneous malignancies. ...
Skin Pigmentation Disorders/Images ... Skin Pigmentation Disorders ... VisualDX ... Postinflammatory hypopigmentation is the ...
The common of pigmentation disorders.: You can meet any of us from a certain age. Even if you didnt have a single freckle in ...
  • Background There is little published information about segmental hypo- and hyperpigmentation pigmentation disorder (SegPD) although it is a relatively common problem in paediatric dermatology. (medscape.com)
  • We propose reviving the term 'segmental pigmentation disorder' coined by Metzker and colleagues to describe children with segmental and block-like hypo-/hyperpigmentation with midline demarcation. (medscape.com)
  • Skin pigmentation disorders including hyperpigmentation and albinism. (nih.gov)
  • Drug-induced pigmentation and/or hyperpigmentation may be caused by numerous drugs through a number of differing mechanisms. (logicalimages.com)
  • A common form of pigmentation is hyperpigmentation, when the body produces too much melatonin. (ag3derm.com)
  • Sir, Acanthosis nigricans (AN) is a skin disorder characterised by skin hyperpigmentation and thickening. (e-ijd.org)
  • Segmental Pigmentation Disorder: Clinical Manifestations and Epidemiological Features in 144 patients, a Retrospective Case-control Study. (nih.gov)
  • [ 1 ] introduced the term 'segmental pigmentation disorder' (SegPD) when reporting on a case series of 30 children accrued over a 4-year period. (medscape.com)
  • Cite this: Segmental Pigmentation Disorder - Medscape - Jun 01, 2010. (medscape.com)
  • Segmental Pigmentation Disorder (SegPD) is an uncommon skin condition affecting young children. (pedraresearch.org)
  • Segmental Pigmentation Disorder consists of white and brown pigmented birthmarks that appear as large patches on the body. (pedraresearch.org)
  • The underlying cause of Segmental Pigmentation Disorder is not known, but it suspected to be due to genetic changes in these different areas of skin color, in the way that the skin cells produce pigment. (pedraresearch.org)
  • Overview of Pigmentation Disorders Melanin is the brownish pigment responsible for the color of skin, hair, and the iris of the eyes. (merckmanuals.com)
  • Vitiligo is an acquired depigmenting skin disorder in which pigment is lost from the skin in patches. (arlingtonvaderm.com)
  • He told the talk show host that he had vitiligo, a disorder that destroyed his skin pigmentation. (cnn.com)
  • A family of compounds derived from black pepper extract have shown potential in animal studies to be effective in treating vitiligo, a skin pigmentation disorder. (sciencedaily.com)
  • Vitiligo is a disorder associated with pigmentation of the skin. (diethealthclub.com)
  • Vitiligo is an auto immune disorder. (diethealthclub.com)
  • Individuals with vitiligo-suffering parents are more prone to the disorder. (diethealthclub.com)
  • Nonsegmental vitiligo is a skin disorder characterized by a loss of pigmentation, or color, of the skin, mucosa, and hair. (nursingcenter.com)
  • Vitiligo is an acquired disorder of pigmentation characterized by depigmented or hypopigmented macules caused by loss of epidermal melanocytes. (e-ijd.org)
  • Oculocutaneous albinism (OCA) is a clearly defined set of seven types of genetic mutations which reduce or completely prevent the synthesis of eumelanin or pheomelanin , resulting in reduced pigmentation. (wikipedia.org)
  • Hermansky-Pudlak syndrome (HPS) consists of a group of genetically heterogeneous disorders which share the clinical findings of oculocutaneous albinism, a platelet storage pool deficiency, and some degree of ceroid lipofuscinosis. (nih.gov)
  • Sharma's award will support research of oculocutaneous albinism (OCA), a group of genetic disorders that affect production of the skin pigment melanin. (nih.gov)
  • A polymorphism in the agouti signaling protein gene is associated with human pigmentation. (nature.com)
  • Patients with oral melanoma often recall having a previous pigmentation in the same area months to years before the melanoma diagnosis, and the condition may even have elicited a prior comment from physicians or dentists. (medscape.com)
  • The four major mechanisms leading to increased oral pigmentation are discussed in detail: physiologic pigmentation, systemic diseases (eg, Peutz-Jeghers syndrome [PJS]), oral mucosal insults (eg, amalgam tattoo), and neoplastic processes (eg, melanoma). (medscape.com)
  • People who have a disorder called acanthosis nigricans develop darkened and thickened skin in the underarms, on the nape of the neck, and in skinfolds. (merckmanuals.com)
  • Shining Light on Autophagy in Skin Pigmentation and Pigmentary Disorders. (nih.gov)
  • Physiologic pigmentation, also known as racial or ethnic pigmentation, is an increased production of melanin pigment by melanocytes in dark-skinned individuals. (medscape.com)
  • [ 5 ] The pigmentation is due to an increased melanocytic activity rather than an increase in the number of melanocytes. (medscape.com)
  • Melanocytes are the cells that produce pigmentation in the skin. (sciencedaily.com)
  • Melanocytes or the pigment-making cells are destroyed in this disorder. (diethealthclub.com)
  • This uneven melanin production results in spots of pigmentation known as freckles. (merckmanuals.com)
  • Buchner A. Amalgam tattoo (amalgam pigmentation) of the oral mucosa: clinical manifestations, diagnosis and treatment. (medscape.com)
  • Black and Brown: Non-neoplastic Pigmentation of the Oral Mucosa. (medscape.com)
  • Tripe palms along with pigmentation over her genital and oral mucosa were seen [Figure 3] . (e-ijd.org)
  • The smallest amount of UV exposure may cause melasma to recur after fading which explains why the pigmentation of melasma worsens in summer. (fairfieldderm.com)
  • Melasma - this is a pigmentation problem which often appears during pregnancy as a result of hormonal changes in the body. (thelasertreatmentclinic.com)
  • To define the spectrum of this disorder more accurately, we retrospectively reviewed the records of 39 children with SegPD. (medscape.com)
  • Early biopsy of focal pigmentations of undetermined etiology is extremely important in order to detect oral melanomas at an early stage. (medscape.com)
  • Lambertini M, Patrizi A, Ravaioli GM, Dika E. Oral pigmentation in physiologic conditions, post-inflammatory affections and systemic diseases. (medscape.com)
  • Abnormal skin growths and abnormal pigmentation of the skin may be present at birth or develop later in life. (childrensnational.org)
  • When your roommate has bipolar disorder, there are things to consider. (healthyplace.com)
  • When your roommate has bipolar disorder -- or any other mental illness -- they may, unwittingly, be responsible for taking care of you and managing their own reactions to your symptoms ( Effects of Bipolar Disorder on Family and Friends ). (healthyplace.com)
  • Increased melanin most often produces a brownish pigmentation in the dermis. (logicalimages.com)
  • No association with systemic disorders, such as neurological involvement, was found. (medscape.com)
  • [ 7 ] The tendency to develop pigmentation appears to be genetically determined, but color intensity might be influenced by smoking, hormones, systemic medications, and physical factors. (medscape.com)
  • Systemic Lupus Erythematosus (SLE) Systemic lupus erythematosus is a chronic autoimmune inflammatory connective tissue disorder that can involve joints, kidneys, skin, mucous membranes, and blood vessel walls. (merckmanuals.com)
  • One of the main causes of uneven skin tone is pigmentation disorders, where your skin produces too much or not enough melanin. (cetaphil.com)
  • I suffer from post inflammation pigmentation from adult acne for several years and literally have tried a whole variety of topical treatments, prescriptive, lasers etc. (thelasertreatmentclinic.com)
  • Before you invest in more expensive treatments for pigmentation disorders, it may be useful to try these home remedies first to see if they can treat the problem. (ag3derm.com)
  • Skin pigmentation process and its regulation. (nih.gov)
  • Pigmentation mutants in various species are highly informative about basic genetic and developmental pathways, and provide important clues to the processes of photoprotection, cancer predisposition and even human evolution. (nature.com)
  • Mutants were analyzed for pigmentation defects and retinal disease by histology, immunohistochemistry, and transmission electron microscopy.Phenocopy and rescue experiments determined that a loss of Vps11 results in the platinum phenotype. (nih.gov)
  • With the exception of albinism, most of these pigmentation disorders can be effectively treated using laser treatment. (thelasertreatmentclinic.com)
  • Local treatment now rules the global market due to better clinical results in patients with pigmentation problems. (eu.org)
  • Each gene responsible for a subset of HPS or a related disorder codes for a protein which almost certainly plays a pivotal role in vesicular trafficking, inextricably linking clinical and cell biological interests in this group of diseases. (nih.gov)
  • Question 1: What is the specific clinical disorder to be studied? (cdc.gov)
  • Question 2: What are the clinical findings defining this disorder? (cdc.gov)
  • The specific clinical disorder is primary iron overload of adult onset sufficient to cause significant morbidity and mortality. (cdc.gov)
  • The original clinical diagnosis of hereditary hemochromatosis was based on the triad of hepatic cirrhosis, diabetes mellitus, and skin pigmentation. (cdc.gov)
  • Low vitamin D intake can be related to seasonal affective disorder," says Alan Manevitz, MD, clinical psychiatrist at Lenox Hill Hospital in New York City. (qualityhealth.com)
  • They are responsible for the pigmentation of skin and hair, and thereby contribute to the appearance of skin and provide protection from damage by ultraviolet radiation. (nature.com)
  • Similar to silver , a gold preparation used parenterally for a long period may rarely produce a permanent skin pigmentation - especially if the skin is exposed to sunlight or artificial ultraviolet radiation. (wikidoc.org)
  • Noonan syndrome with multiple lentigines (NSML) is a very rare inherited disorder. (nih.gov)
  • Chlorpromazine is known, in rare instances, to induceskin pigmentation in areas exposed to sunlight. (psychiatrist.com)
  • Freckles are a result of variation in skin pigmentation in which pigment is not released evenly. (ag3derm.com)
  • Call your provider if there are symptoms of this disorder. (nih.gov)
  • Related diseases share some of these findings and may exhibit other symptoms and signs but the underlying defect in the entire group of disorders involves defective intracellular vesicle formation, transport or fusion. (nih.gov)
  • Multiple causes are known, and they may range from simple iatrogenic mechanisms, such as implantation of dental amalgam, to complex medical disorders, such as Peutz-Jeghers syndrome (PJS) and Addison disease. (medscape.com)
  • Most pigmentation disorders involve the underproduction or overproduction of melanin. (wikipedia.org)
  • Pigmentation disorders are caused by an overproduction or underproduction of melanin. (ag3derm.com)
  • Some pigmentation disorders affect just patches of skin. (medlineplus.gov)
  • Research reveals the greater incidence of this disorder, in individuals suffering from autoimmune diseases, such as pernicious anemia, hyperthyroidism and alopecia areata (patches of baldness). (diethealthclub.com)
  • Pigmentation can cause skin to appear discoloured or blotchy, & can make areas of the skin appear lighter or darker than normal. (ag3derm.com)
  • Acne is a disorder of the hair follicles and oil (sebaceous) glands that become clogged. (childrensnational.org)
  • For example, a person may look yellow because of liver problems, slightly blue because of breathing problems, bruised because of blood disorders, or pink or red because of skin problems or extra sensitivity to sunlight. (cancer.org)
  • PJS is an autosomal dominant disorder characterized by intestinal hamartomatous polyps in association with mucocutaneous melanocytic macules. (medscape.com)
  • Juvenile hemochromatosis ( HFE2 ) is a rare autosomal recessive disorder associated with a gene mapped to the long arm of chromosome 1. (cdc.gov)
  • Carney complex is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (nih.gov)
  • Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (merckmanuals.com)
  • ture of genetic disorders, genetic consultation and testing, The authors thank the other members of the Genetics Home gene therapy, and genomic research. (nih.gov)
  • To evaluate the electroretinogram waveform in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) using a discrete wavelet transform (DWT) approach. (frontiersin.org)
  • Pigmentation is what affects the color of skin. (medicalnewstoday.com)
  • Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. (nih.gov)
  • A specialized UV lamp known as a Wood's lamp may be used by the dermatologist to accentuate differences in pigmentation and sun damaged skin. (fairfieldderm.com)
  • There are certain classes of drugs that are more commonly implicated in causing skin, mucous membrane, and nail pigmentation. (logicalimages.com)
  • Oral pigmentation is a relatively common condition that may involve any portion of the oral cavity. (medscape.com)
  • He also pioneered X-ray therapy for dermatological disorders. (uc.edu)
  • Almost all people with Carney complex have areas of unusual skin pigmentation. (nih.gov)