Acanthosis Nigricans
Paraneoplastic Syndromes
Hyperpigmentation
Hyperandrogenism
Lipodystrophy, Congenital Generalized
Craniofacial Dysostosis
Hand Dermatoses
Southwestern United States
Hirsutism
Receptor, Fibroblast Growth Factor, Type 3
Insulin Resistance
Lipodystrophy
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. (1/88)
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). However, three of the four individuals developed extensive areas of acanthosis nigricans beginning in early childhood, suffer from severe neurological impairments, and have survived past infancy without prolonged life-support measures. The FGFR3 mutation (A1949T: Lys650Met) occurs at the nucleotide adjacent to the TD type II (TD2) mutation (A1948G: Lys650Glu) and results in a different amino acid substitution at a highly conserved codon in the kinase domain activation loop. Transient transfection studies with FGFR3 mutant constructs show that the Lys650Met mutation causes a dramatic increase in constitutive receptor kinase activity, approximately three times greater than that observed with the Lys650Glu mutation. We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. (+info)Clearance of acanthosis nigricans associated with the HAIR-AN syndrome after partial pancreatectomy: an 11-year follow-up. (2/88)
We describe a woman with the syndrome characterised by hyperandrogenism, insulin resistance and acanthosis nigricans (the HAIR-AN syndrome), and an associated insulinoma (islet B-cell tumour), whose signs and symptoms cleared after partial pancreatectomy. (+info)A quantitative scale of acanthosis nigricans. (3/88)
OBJECTIVE: To develop and validate a scale for acanthosis nigricans (AN). RESEARCH DESIGN AND METHODS: Subjects were participants from the San Antonio Family Diabetes Study and the San Antonio Family Heart Study. A total of 406 subjects were independently examined for AN by at least two observers. Five locations were examined: the neck, axilla, elbows, knuckles, and knees. Interobserver concordance and kappa statistics were calculated to determine replicability of the scale. Comparisons of diabetes-related risk factors by AN score were also calculated. RESULTS: Only the neck had consistently high kappa statistics, and thus, other locations were excluded from further analyses. Elevated AN was strongly associated with elevated fasting insulin and BMI in both diabetic and nondiabetic subjects. Elevated AN was also strongly associated with elevated fasting glucose, systolic blood pressure, and diastolic blood pressure, and with decreased HDL in nondiabetic subjects. In diabetic subjects, elevated AN was associated with elevated total cholesterol. CONCLUSIONS: We have developed a scale for AN that is easy to use, has high interobserver reliability in Mexican Americans, and correlates well with fasting insulin and BMI. This scale will permit longitudinal and cross-sectional evaluation of AN and will permit the evaluation of AN as a trait in genetic studies. (+info)Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. (4/88)
Several gain-of-function mutations in a receptor tyrosine kinase, fibroblast growth factor receptor 3 (FGFR3), cause dwarfism in humans. Two particularly severe dwarfisms, thanatophoric dysplasia type II (TDII) and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), are associated with glutamic acid (E) and methionine (M) substitutions at the K650 residue in the kinase domain. TDII is lethal at birth, whereas most of the SADDAN patients survive the perinatal period. However, FGFR3 with the SADDAN mutation is more activated than FGFR3 with the TDII mutation in vitro. To find out whether the K650M mutation also causes the SADDAN phenotype, we introduced the corresponding point mutation (K644M) into the mouse Fgfr3 gene. Heterozygous mutant mice show a phenotype similar to human SADDAN, e.g. the majority of the SADDAN mice survive the perinatal period. This suggests that the survival of SADDAN patients is indeed attributed to the K650M mutation in FGFR3. The long bone abnormalities in SADDAN mice are milder than the TDII model. In addition, overgrowth of the cartilaginous tissues is observed in the rib cartilage, trachea and nasal septum. The FGF ligand at the low concentration differentially activates Map kinase in primary chondrocyte cultures from wild-type and SADDAN mice. Comparisons of the molecular bases of the phenotypic differences in SADDAN and TDII mice may increase our understanding of the factors that influence the severity in these two related skeletal dysplasias. (+info)HAIR-AN syndrome: a multisystem challenge. (5/88)
HAIR-AN syndrome is an acronym for an unusual multisystem disorder in women that consists of hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN). The precipitating abnormality is thought to be insulin resistance, with a secondary increase in insulin levels and subsequent overproduction of androgens in the ovaries. Long periods of hyperinsulinism and, some suspect, hyperandrogenism can result in the cutaneous manifestation of acanthosis nigricans. Patients are often concerned about the physical manifestations of this disorder, including virilization and acanthosis nigricans, and may be less aware of systemic problems. Physicians should assess women with these problems for an underlying endocrine abnormality. Although a treatment regimen for the HAIR-AN syndrome has not been established, antiandrogen therapy and weight loss are useful. (+info)Association of acanthosis nigricans with race and metabolic disturbances in obese women. (6/88)
Acanthosis nigricans (AN) has been recognized as a marker of insulin resistance and diabetes mellitus. We have compared frequency of race and metabolic disturbances in obese women with several degrees of AN (AN group, N = 190) to a group without AN (non-AN group, N = 61) from a mixed racial population. The groups were similar regarding age and body mass index. All patients (except the diabetic patients) underwent an oral glucose tolerance test (75 g). The racial distribution of this population was 35.1% white, 37.8% mulatto and 27.1% black and the frequency of AN was 62.5, 82.1 and 83.8%, respectively, higher in black versus white (P = 0.003) and mulatto versus white (P = 0.002) women. The frequencies of diabetes mellitus and impaired glucose tolerance were 5.8 and 12.6% in the AN group and 1.6 and 8.2% in the non-AN group, respectively (P>0.05). Fasting glucose, beta cell function determined by the homeostasis model of assessment (HOMA), fasting insulin and insulin area under the curve were similar for the AN and non-AN groups. A higher HOMA insulin resistance was observed in the AN group compared to the non-AN group (P = 0.02) and in the subgroup of highest degree of AN compared to those with other degrees. The mean lipid levels and the frequency of dyslipidemia were similar for the two groups. AN was strongly associated with the black or mulatto rather than the white race, even after taking into account the effect of age, body mass index and HOMA insulin resistance. (+info)Gamma-linolenic acid in borage oil reverses epidermal hyperproliferation in guinea pigs. (7/88)
As dietary sources of gamma-linolenic acid [GLA; 18:3(n-6)], borage oil (BO; 24-25 g/100 g GLA) and evening primrose oil (PO; 8-10 g/100 g GLA) are efficacious in treating skin disorders. The triglycerol stereospecificity of these oils is distinct, with GLA being concentrated in the sn-2 position of BO and in the sn-3 position of PO. To determine whether the absolute level and/or the triglycerol stereospecificity of GLA in oils affect biological efficacy, epidermal hyperproliferation was induced in guinea pigs by a hydrogenated coconut oil (HCO) diet for 8 wk. Subsequently, guinea pigs were fed diets of PO, BO or a mixture of BO and safflower oil (SO) for 2 wk. The mixture of BO and SO (BS) diet had a similar level of GLA as PO but with sn-2 stereospecificity. As controls, two groups were fed SO and HCO for 10 wk. Epidermal hyperproliferation was reversed by all three oils in the order of BO > BS > PO. However, proliferation scores of group PO were higher than of the normal control group, SO. The accumulations of dihomo-gamma-linolenic acid [DGLA; 20:3(n-6)], an elongase product of GLA, into phospholipids and ceramides, of 15-hydroxyeicosatrienoic acid (15-HETrE), the potent antiproliferative metabolite of DGLA, and of ceramides, the major lipid maintaining epidermal barrier, in the epidermis of group BO were greater than of groups BS and PO. Group BS had higher levels of DGLA, 15-HETrE and ceramides than group PO. With primary dependence on absolute levels, our data demonstrate that the antiproliferative efficacy of GLA in the epidermis is preferably exerted from sn-2 stereospecificity of GLA in BO. (+info)An incomplete from of acanthosis nigricans. (8/88)
The authors report a variation of the clinical picture of acanthosis nigricans in two patients with carcinoma of the stomach. (+info)Acanthosis nigricans is a medical condition characterized by the darkening and thickening of the skin in certain areas of the body. These areas typically include the back of the neck, armpits, groin, and skin folds. The skin becomes velvety to touch, and may have a "dirty" appearance.
The condition is often associated with insulin resistance, which can be a sign of type 2 diabetes or prediabetes. It can also be linked to obesity, hormonal imbalances, certain medications, and some rare genetic syndromes.
In addition to the changes in skin color and texture, people with acanthosis nigricans may also experience itching, odor, or discomfort in the affected areas. Treatment typically involves addressing the underlying cause of the condition, such as managing diabetes or losing weight. Topical treatments may also be used to improve the appearance of the skin.
Paraneoplastic syndromes refer to a group of rare disorders that are caused by an abnormal immune system response to a cancerous (malignant) tumor. These syndromes are characterized by symptoms or signs that do not result directly from the growth of the tumor itself, but rather from substances produced by the tumor or the body's immune system in response to the tumor.
Paraneoplastic syndromes can affect various organs and systems in the body, including the nervous system, endocrine system, skin, and joints. Examples of paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome (LEMS), which affects nerve function and causes muscle weakness; cerebellar degeneration, which can cause difficulty with coordination and balance; and dermatomyositis, which is an inflammatory condition that affects the skin and muscles.
Paraneoplastic syndromes can occur in association with a variety of different types of cancer, including lung cancer, breast cancer, ovarian cancer, and lymphoma. Treatment typically involves addressing the underlying cancer, as well as managing the symptoms of the paraneoplastic syndrome.
Hyperpigmentation is a medical term that refers to the darkening of skin areas due to an increase in melanin, the pigment that provides color to our skin. This condition can affect people of all races and ethnicities, but it's more noticeable in those with lighter skin tones.
Hyperpigmentation can be caused by various factors, including excessive sun exposure, hormonal changes (such as during pregnancy), inflammation, certain medications, and underlying medical conditions like Addison's disease or hemochromatosis. It can also result from skin injuries, such as cuts, burns, or acne, which leave dark spots known as post-inflammatory hyperpigmentation.
There are several types of hyperpigmentation, including:
1. Melasma: This is a common form of hyperpigmentation that typically appears as symmetrical, blotchy patches on the face, particularly the forehead, cheeks, and upper lip. It's often triggered by hormonal changes, such as those experienced during pregnancy or while taking birth control pills.
2. Solar lentigos (age spots or liver spots): These are small, darkened areas of skin that appear due to prolonged sun exposure over time. They typically occur on the face, hands, arms, and decolletage.
3. Post-inflammatory hyperpigmentation: This type of hyperpigmentation occurs when an injury or inflammation heals, leaving behind a darkened area of skin. It's more common in people with darker skin tones.
Treatment for hyperpigmentation depends on the underlying cause and may include topical creams, chemical peels, laser therapy, or microdermabrasion. Preventing further sun damage is crucial to managing hyperpigmentation, so wearing sunscreen with a high SPF and protective clothing is recommended.
Hyperandrogenism is a medical condition characterized by excessive levels of androgens (male sex hormones) in the body. This can lead to various symptoms such as hirsutism (excessive hair growth), acne, irregular menstrual periods, and infertility in women. It can be caused by conditions like polycystic ovary syndrome (PCOS), congenital adrenal hyperplasia, and tumors in the ovaries or adrenal glands. Proper diagnosis and management of hyperandrogenism is important to prevent complications and improve quality of life.
Congenital Generalized Lipodystrophy (CGL) is a rare genetic disorder characterized by the near or complete absence of body fat at birth or in early childhood. It is also known as Berardinelli-Seip congenital lipodystrophy. The condition is caused by mutations in genes responsible for the development and function of adipose tissue (fat).
Individuals with CGL typically have a lack of subcutaneous fat, which gives them a muscular appearance, but they may have excess fat accumulation in other areas such as the neck, face, and liver. This can lead to various metabolic complications, including insulin resistance, diabetes mellitus, hypertriglyceridemia (high levels of triglycerides in the blood), and hepatic steatosis (fatty liver disease).
CGL is a genetic disorder that is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The diagnosis of CGL is typically based on clinical features and confirmed by genetic testing. Treatment for CGL focuses on managing the metabolic complications associated with the disorder.
Craniofacial dysostosis is a term used to describe a group of rare genetic disorders that affect the development of the skull and face. These conditions are characterized by cranial and facial abnormalities, including a misshapen head, wide-set eyes, a beaked nose, and underdeveloped jaws.
The most common type of craniofacial dysostosis is Crouzon syndrome, which is caused by mutations in the FGFR2 gene. Other types include Apert syndrome (caused by mutations in the FGFR2 or FGFR3 gene), Pfeiffer syndrome (caused by mutations in the FGFR1 or FGFR2 gene), and Saethre-Chotzen syndrome (caused by mutations in the TWIST1 gene).
These conditions can vary in severity, but they often cause complications such as breathing difficulties, vision problems, hearing loss, and developmental delays. Treatment typically involves a team of specialists, including craniofacial surgeons, orthodontists, ophthalmologists, and audiologists, and may include surgery to correct the structural abnormalities and improve function.
Hand dermatoses is a general term used to describe various inflammatory skin conditions that affect the hands. These conditions can cause symptoms such as redness, swelling, itching, blistering, scaling, and cracking of the skin on the hands. Common examples of hand dermatoses include:
1. Irritant contact dermatitis: A reaction that occurs when the skin comes into contact with irritants such as chemicals, soaps, or detergents.
2. Allergic contact dermatitis: A reaction that occurs when the skin comes into contact with allergens, such as nickel, rubber, or poison ivy.
3. Atopic dermatitis (eczema): A chronic skin condition characterized by dry, itchy, and inflamed skin.
4. Psoriasis: A chronic skin condition characterized by red, scaly patches that can occur anywhere on the body, including the hands.
5. Dyshidrotic eczema: A type of eczema that causes small blisters to form on the sides of the fingers, palms, and soles of the feet.
6. Lichen planus: An inflammatory skin condition that can cause purple or white patches to form on the hands and other parts of the body.
7. Scabies: A contagious skin condition caused by mites that burrow into the skin and lay eggs, causing intense itching and a rash.
Treatment for hand dermatoses depends on the specific diagnosis and may include topical creams or ointments, oral medications, phototherapy, or avoidance of triggers.
I'm sorry for any confusion, but "Southwestern United States" is not a term that has a medical definition. It generally refers to a geographic region in the western part of the United States, consisting of Arizona, New Mexico, Oklahoma, and Texas, as well as portions of California, Colorado, Nevada, and Utah. If you're looking for medical information, I'd be happy to help if you could provide more context or specify a medical topic.
Hirsutism is a medical condition characterized by excessive hair growth in women in areas where hair growth is typically androgen-dependent, such as the face, chest, lower abdomen, and inner thighs. This hair growth is often thick, dark, and coarse, resembling male-pattern hair growth. Hirsutism can be caused by various factors, including hormonal imbalances, certain medications, and genetic conditions. It's essential to consult a healthcare professional if you experience excessive or unwanted hair growth to determine the underlying cause and develop an appropriate treatment plan.
Fibroblast Growth Factor Receptor 3 (FGFR3) is a type of cell surface receptor that binds to fibroblast growth factors (FGFs), which are signaling proteins involved in various biological processes such as cell division, growth, and wound healing.
FGFR3 is a transmembrane protein with an extracellular domain that contains the binding site for FGFs, a transmembrane domain, and an intracellular tyrosine kinase domain that activates downstream signaling pathways upon FGF binding.
Mutations in the FGFR3 gene have been associated with several human genetic disorders, including thanatophoric dysplasia, achondroplasia, and hypochondroplasia, which are characterized by abnormal bone growth and development. In these conditions, gain-of-function mutations in FGFR3 lead to increased receptor activity and activation of downstream signaling pathways, resulting in impaired endochondral ossification and short-limbed dwarfism.
In addition to its role in bone growth and development, FGFR3 has been implicated in the regulation of cell proliferation, differentiation, and survival in various tissues, including the brain, lung, and kidney. Dysregulation of FGFR3 signaling has also been associated with cancer, including bladder, breast, and cervical cancers.
Oligomenorrhea is a medical term used to describe infrequent menstrual periods, where the cycle length is more than 35 days but less than 68 days. It's considered a menstrual disorder and can affect people of reproductive age. The causes of oligomenorrhea are varied, including hormonal imbalances, polycystic ovary syndrome (PCOS), thyroid disorders, excessive exercise, significant weight loss or gain, and stress. In some cases, it may not cause any other symptoms, but in others, it can be associated with infertility, hirsutism (excessive hair growth), acne, or obesity. Treatment depends on the underlying cause and may include lifestyle modifications, hormonal medications, or surgery in rare cases.
Insulin resistance is a condition in which the body's cells become less responsive to insulin, a hormone produced by the pancreas that regulates blood sugar levels. In response to this decreased sensitivity, the pancreas produces more insulin to help glucose enter the cells. However, over time, the pancreas may not be able to keep up with the increased demand for insulin, leading to high levels of glucose in the blood and potentially resulting in type 2 diabetes, prediabetes, or other health issues such as metabolic syndrome, cardiovascular disease, and non-alcoholic fatty liver disease. Insulin resistance is often associated with obesity, physical inactivity, and genetic factors.
Lipodystrophy is a medical condition characterized by abnormal distribution or absence of fat (adipose tissue) in the body. It can lead to metabolic complications such as insulin resistance, diabetes mellitus, high levels of fats in the blood (dyslipidemia), and liver disease. There are different types of lipodystrophy, including congenital generalized lipodystrophy, acquired generalized lipodystrophy, and partial lipodystrophy, which can affect different parts of the body and have varying symptoms and causes.
Rhizopus is a genus of saprophytic fungi that belong to the family Mucoraceae. These fungi are commonly found in soil, decaying vegetation, and fruits. They are characterized by the presence of rhizoids, which are multicellular filaments that anchor the fungus to its substrate.
Rhizopus species are known to produce spores in large numbers, which can be dispersed through the air and cause infections in humans, particularly in individuals with weakened immune systems. One of the most common diseases caused by Rhizopus is mucormycosis, a serious and often life-threatening fungal infection that can affect various organs, including the sinuses, lungs, brain, and skin.
It's worth noting that while Rhizopus species are important pathogens in certain populations, they also have beneficial uses. For example, some species of Rhizopus are used in the production of tempeh, a traditional Indonesian food made from fermented soybeans.