Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.
Diseases affecting the orderly growth and persistence of hair.
A scanning probe microscopy technique that uses an ultramicroelectrode as the scanning probe that simultaneously records changes in electrochemical potential as it scans thereby creating topographical images with localized electrochemical information.
A keratin subtype that includes keratins that are generally larger and less acidic that TYPE I KERATINS. Type II keratins combine with type I keratins to form keratin filaments.
Presence of less than the normal amount of hair. (Dorland, 27th ed)
Keratins that are specific for hard tissues such as HAIR; NAILS; and the filiform papillae of the TONGUE.
A group of desmosomal cadherins with cytoplasmic tails that resemble those of classical CADHERINS.
A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.
A class of fibrous proteins or scleroproteins that represents the principal constituent of EPIDERMIS; HAIR; NAILS; horny tissues, and the organic matrix of tooth ENAMEL. Two major conformational groups have been characterized, alpha-keratin, whose peptide backbone forms a coiled-coil alpha helical structure consisting of TYPE I KERATIN and a TYPE II KERATIN, and beta-keratin, whose backbone forms a zigzag or pleated sheet structure. alpha-Keratins have been classified into at least 20 subtypes. In addition multiple isoforms of subtypes have been found which may be due to GENE DUPLICATION.

Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. (1/1)

BACKGROUND: Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. In this study, we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix. METHODS: In this study, we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination. Genomic DNA from peripheral blood samples was prepared. DNA samples from controls and monilethrix patients were subject to polymerase chain reaction (PCR) amplification. Two pairs of primers were used to amplify the seventh exon of KRT86. Mutation screening of the PCR products was detected using direct sequencing. RESULTS: Light microscopic examination showed a regular alternate enlargement and narrow area. SEM examination showed that part of the cuticle of the nodules shed and disappeared gradually in the narrow area with granular protrusions on the surface similar to the erosion-like structure. Parallel longitudinal ridge and groovepattern appeared, and the ridges varied in width, like dead wood. A heterozygous transversion mutation c.1204G > A (p.E402K) in the seventh exon of KRT86 was identified in both patients. CONCLUSIONS: The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix, and is a mutation hot spot of KRT86. Further research is needed to explore the relationship between the phenotype and the mutation of the type II hair keratin gene KRT86 of monilethrix.  (+info)

Monilethrix is a rare hereditary hair disorder characterized by the beading and fragmentation of the hair shaft. The name "monilethrix" comes from the Latin word "monile," meaning necklace or beads, and the Greek word "thrix," meaning hair.

In this condition, the hair shaft has a narrowed or constricted appearance at regular intervals, creating a bead-like pattern. These constrictions can lead to weakening of the hair shaft, causing it to break easily and resulting in short, fragile hairs that may have a "bamboo-like" appearance under a microscope.

Monilethrix is typically inherited as an autosomal dominant trait, meaning that only one copy of the mutated gene from either parent is sufficient to cause the disorder. The genetic mutation responsible for monilethrix affects the hair shaft's structure and is usually found in genes encoding proteins involved in keratin production or hair shaft formation.

The condition typically presents in early childhood, with affected individuals having sparse, broken hairs on the scalp, eyebrows, and eyelashes. The hair may appear normal at birth but begin to show signs of the disorder within the first few months of life. In some cases, the hair may grow longer and stronger as the individual ages, although it often remains fragile and prone to breakage.

There is no cure for monilethrix, and treatment typically focuses on managing symptoms and preventing further damage to the hair shafts. This can include gentle hair care practices, avoiding harsh chemicals or heat treatments, and using specialized hair care products designed for damaged or fragile hair.

Hair diseases is a broad term that refers to various medical conditions affecting the hair shaft, follicle, or scalp. These conditions can be categorized into several types, including:

1. Hair shaft abnormalities: These are conditions that affect the structure and growth of the hair shaft. Examples include trichorrhexis nodosa, where the hair becomes weak and breaks easily, and pili torti, where the hair shaft is twisted and appears sparse and fragile.
2. Hair follicle disorders: These are conditions that affect the hair follicles, leading to hair loss or abnormal growth patterns. Examples include alopecia areata, an autoimmune disorder that causes patchy hair loss, and androgenetic alopecia, a genetic condition that leads to pattern baldness in both men and women.
3. Scalp disorders: These are conditions that affect the scalp, leading to symptoms such as itching, redness, scaling, or pain. Examples include seborrheic dermatitis, psoriasis, and tinea capitis (ringworm of the scalp).
4. Hair cycle abnormalities: These are conditions that affect the normal growth cycle of the hair, leading to excessive shedding or thinning. Examples include telogen effluvium, where a large number of hairs enter the resting phase and fall out, and anagen effluvium, which is typically caused by chemotherapy or radiation therapy.
5. Infectious diseases: Hair follicles can become infected with various bacteria, viruses, or fungi, leading to conditions such as folliculitis, furunculosis, and kerion.
6. Genetic disorders: Some genetic disorders can affect the hair, such as Menkes syndrome, which is a rare inherited disorder that affects copper metabolism and leads to kinky, sparse, and brittle hair.

Proper diagnosis and treatment of hair diseases require consultation with a healthcare professional, often a dermatologist or a trichologist who specializes in hair and scalp disorders.

Electrochemical Scanning Microscopy (ESCM) is not a specific type of microscopy on its own, but rather refers to various techniques that combine scanning probe microscopy with electrochemistry. These techniques use a sharp probe to scan the surface of a sample while simultaneously measuring or applying an electrical potential. This allows for the visualization and manipulation of electrochemical processes at the nanoscale.

There are several types of ESCM, including:

1. Scanning Electrochemical Microscopy (SECM): A technique that measures the local electrochemical activity of a sample by scanning a microelectrode over its surface while monitoring changes in current. This can be used to map out the distribution of redox-active species, measure local pH or potential, and study corrosion processes.

2. Scanning Ion Conductance Microscopy (SICM): A technique that measures the ion conductance between a nanopipette and a sample surface to create topographic images with high resolution. SICM can be used to investigate biological samples, such as cells and tissues, in their native environment without causing damage.

3. Scanning Kelvin Probe Microscopy (SKPM): A technique that measures the contact potential difference between a conductive probe and a sample surface. This allows for the mapping of work function differences, which can provide information about chemical composition and electronic properties.

4. Piezoresponse Force Microscopy (PFM): A technique that uses an electric field to induce mechanical deformation in ferroelectric or piezoelectric materials. By monitoring these deformations, PFM can be used to map the local polarization and investigate nanoscale electromechanical properties.

5. Scanning Electrochemical Strain Microscopy (SESM): A technique that combines scanning probe microscopy with electrochemical strain measurements to study mechanical deformations in materials under an applied potential. SESM can be used to investigate the relationship between electrochemical processes and mechanical properties at the nanoscale.

In summary, Electrochemical Scanning Microscopy (ESCM) encompasses various techniques that combine scanning probe microscopy with electrochemical measurements or manipulations. These methods provide valuable insights into the structure, composition, and properties of materials at the nanoscale, enabling advancements in fields such as energy storage, electronics, biology, and materials science.

Type II keratins are a group of intermediate filament proteins that are primarily expressed in epithelial cells. They are part of the keratin family, which is divided into two types (Type I and Type II) based on their acidic or basic isoelectric point. Type II keratins have a basic isoelectric point and include several subtypes such as KRT2, KRT3, KRT4, KRT10, KRT12, and others.

Type II keratins form heteropolymers with Type I keratins to provide structural support and integrity to epithelial cells. They are essential for the maintenance of cell shape, polarity, and mechanical resistance to stress. Mutations in type II keratin genes have been associated with several human genetic disorders, including epidermolysis bullosa simplex, a blistering skin disorder, and some forms of hair loss.

In summary, Type II keratins are a group of basic intermediate filament proteins that form heteropolymers with Type I keratins to provide structural support and integrity to epithelial cells.

Hypotrichosis is a medical term that refers to a condition characterized by an abnormal lack or sparseness of hair growth. This can apply to the eyebrows, eyelashes, or scalp hair. It's important to note that this is not a complete loss of hair, but rather a significant reduction in hair density. The onset and severity can vary greatly, and it can be inherited or acquired later in life due to various factors such as diseases, burns, or certain medications.

Hair-specific keratins are a type of keratin proteins that are particularly abundant in the structural composition of hair fibers. They are primarily responsible for providing strength, resilience, and elasticity to the hair. Keratins are part of a larger family of fibrous proteins known as intermediate filaments, which also include keratins found in nails, skin, and other epithelial tissues.

Hair-specific keratins are categorized into two types: Type I (acidic keratins) and Type II (basic keratins). These keratin types form heterodimers, which then assemble into intermediate filament structures called protofibrils. Protofibrils further aggregate to create larger intermediate filaments that provide the hair's internal structure.

There are several hair-specific keratin genes, and mutations in these genes can lead to various hair and skin abnormalities, such as hair shaft defects and brittle hair syndromes.

Desmogleins are a group of proteins that are part of the desmosomes, which are structures that help to strengthen and maintain the integrity of epithelial tissues. Desmogleins play a crucial role in cell-to-cell adhesion by forming intercellular junctions known as desmoglein adherens junctions. These junctions help to anchor intermediate filaments, such as keratin, to the plasma membrane and provide structural support to epithelial cells.

There are four main types of desmogleins (Dsg1-4), each with distinct expression patterns in different tissues. For example, Dsg1 is primarily expressed in the upper layers of the epidermis, while Dsg3 is found in the lower layers and in mucous membranes. Mutations in desmoglein genes have been associated with several skin disorders, including pemphigus vulgaris and pemphigus foliaceus, which are autoimmune blistering diseases characterized by the loss of cell-to-cell adhesion in the epidermis.

Medically, hair is defined as a threadlike structure that grows from the follicles found in the skin of mammals. It is primarily made up of a protein called keratin and consists of three parts: the medulla (the innermost part or core), the cortex (middle layer containing keratin filaments) and the cuticle (outer layer of overlapping scales).

Hair growth occurs in cycles, with each cycle consisting of a growth phase (anagen), a transitional phase (catagen), and a resting phase (telogen). The length of hair is determined by the duration of the anagen phase.

While hair plays a crucial role in protecting the skin from external factors like UV radiation, temperature changes, and physical damage, it also serves as an essential aspect of human aesthetics and identity.

Keratins are a type of fibrous structural proteins that constitute the main component of the integumentary system, which includes the hair, nails, and skin of vertebrates. They are also found in other tissues such as horns, hooves, feathers, and reptilian scales. Keratins are insoluble proteins that provide strength, rigidity, and protection to these structures.

Keratins are classified into two types: soft keratins (Type I) and hard keratins (Type II). Soft keratins are found in the skin and simple epithelial tissues, while hard keratins are present in structures like hair, nails, horns, and hooves.

Keratin proteins have a complex structure consisting of several domains, including an alpha-helical domain, beta-pleated sheet domain, and a non-repetitive domain. These domains provide keratin with its unique properties, such as resistance to heat, chemicals, and mechanical stress.

In summary, keratins are fibrous structural proteins that play a crucial role in providing strength, rigidity, and protection to various tissues in the body.

Chabchoub, I.; Souissi, A. (2022). "Monilethrix". Monilethrix NCBI. StatPearls. PMID 30969635. "Monilethrix". NORD (National ... Severe cases of monilethrix can also effect finger and toe nails causing abnormal growth. Monilethrix can also cause keratosis ... The frequency of monilethrix is currently unknown. Newborns are not born with Monilethrix; it usually develops within the first ... Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken ...
GPHN Monilethrix; 158000; KRT81 Monilethrix; 158000; KRT83 Monilethrix; 158000; KRT86 Mononeuropathy of the median nerve, mild ...
A keratin disease is a genetic disorder of one of the keratin genes.[citation needed] An example is monilethrix. The first to ...
Aid in the diagnosis of hair and scalp diseases, such as alopecia areata, female androgenic alopecia, monilethrix, Netherton ... "Dermoscopy as a tool for rapid diagnosis of monilethrix". Journal of Drugs in Dermatology. 6 (2): 222-4. PMID 17373184. ...
... monilethrix, wooly hair syndrome, pili torti, pili annulati and trichothiodystrophy. It has also been proved trichoscopy can be ... "Dermoscopy as a tool for rapid diagnosis of monilethrix". Journal of Drugs in Dermatology 6 (2): 222-4. PMID 17373184. Rakowska ...
It was shown that this method is especially helpful in diagnosing monilethrix, Netherton syndrome and other pediatric diseases ... "Dermoscopy as a tool for rapid diagnosis of monilethrix". Journal of Drugs in Dermatology. 6 (2): 222-4. PMID 17373184. Tosti A ...
Mutations in the KRT83 gene have been associated with monilethrix. GRCh38: Ensembl release 89: ENSG00000170523 - Ensembl, May ... "A missense mutation in the type II hair keratin hHb3 is associated with monilethrix". J. Med. Genet. 42 (3): e19. doi:10.1136/ ...
1999). "Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) ... 1998). "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix". Hum. Genet ... Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. GRCh38: ... 1999). "Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein ...
1998). "A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the ... 1998). "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix". Hum. Genet ... Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. GRCh38: ...
Monilethrix (beaded hair) Muehrcke's nails (Muehrcke's lines) Nail-patella syndrome (Fong syndrome, hereditary ...
Moloney syndrome Molybdenum cofactor deficiency MOMO syndrome Mondini dysplasia Mondor's disease Monge's disease Monilethrix ...
Ingrown hair Monilethrix (beaded hair) Premature greying of hair Pattern hair loss Trichorrhexis invaginata (hair shaft ...
Monilethrix, a congenital disease with early progressive loss of hair Sabouraud-Noiré instrument: a dosimeter that measures the ...
Chabchoub, I.; Souissi, A. (2022). "Monilethrix". Monilethrix NCBI. StatPearls. PMID 30969635. "Monilethrix". NORD (National ... Severe cases of monilethrix can also effect finger and toe nails causing abnormal growth. Monilethrix can also cause keratosis ... The frequency of monilethrix is currently unknown. Newborns are not born with Monilethrix; it usually develops within the first ... Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken ...
Monilethrix is an autosomal dominant disorder characterized by a beaded appearance of the hair due to periodic thinning of the ... Monilethrix is also known as nodose hair.. In 1897, Walter Smith first described monilethrix (pili moniliformes [Latin]). ... The etiology of monilethrix remains obscure. Results of genetic linkage analysis suggest that monilethrix is likely caused by a ... encoded search term (Monilethrix) and Monilethrix What to Read Next on Medscape ...
Nedoszytko B, Lewicka-Potocka Z, Szczerkowska-Dobosz A, Gleń J, Bykowska B, Świątecka-Czaj J, Nowicki R. Monilethrix in ... and is allelic with dominant monilethrix. J Med Genet. 2017 Mar;54(3):186-189. doi: 10.1136/jmedgenet-2016-104107 . ...
Monilethrix. Mutations in the DSG4 gene have been found in people with monilethrix, a hair condition characterized by strands ... In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the ... Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein ... Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M. Mutations in the desmoglein 4 gene are associated with monilethrix-like ...
Monilethrix. Several mutations in the KRT86 gene can cause monilethrix, a hair condition characterized by strands of hair with ... In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the ... Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. Clin Exp Dermatol. 2003 Mar;28(2):206-10. doi: ... Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and ...
Monilethrix is a rare genetic disorder that causes hair to have a beaded look. Learn more about this condition. ... Can you prevent monilethrix? Monilethrix is an inherited condition, and its not totally clear when someone will inherit it or ... What is monilethrix (aka beaded hair)? Monilethrix is a rare hair condition where the hair periodically thins and thickens, ... Monilethrix treatments There are unfortunately no current cures for monilethrix. However, many people who experience hair ...
monilethrix. *hereditary alopecia. Minoxidil may also be beneficial in people who have received a hair transplant. ...
Monilethrix. Monilethrix is a hair disorder that results in periodic nodes or beading along the length of the hair with ...
Published by Scientific Scholar on behalf of Indian Association of Dermatologists, Venereologists & Leprologists (IADVL), India.. ...
HK Kar, Raj Narayan, RK Jain, RK Guatam, AK Gupta, PK Sharma, C Hans, N Duggal, VB Sovani ...
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix M A M van Steensel, P M Steijlen, R S ...
Trichoschisis, trichorrhexis invaginata, pili torti, and monilethrix are all abnormalities intrinsic to the hair shaft. ...
... erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med ...
... monilethrix (beaded hair), pseudomonilethrix ...
MONILETHRIX. The rare autosomal dominant hair disorder results in short, fragile, broken hair that seems pearly. ...
Psuedo monilethrix. Similar to that of monilethrix, however the hair "beads" are flattened fibers with a rounded cross section. ... Monilethrix. This hair shaft defect presents as beaded hair, with alternating pretruding nodes and constrictions resulting in ...
Monilethrix Whats New Last Posted: Jan 01, 2011 * Monilethrix From NCATS Genetic and Rare Diseases Information Center ...
Monilethrix. Beaded appearance. Normal at birth. Within 1 week, hair is dull and brittle. Breaks spontaneously; stubble-like ...
Monilethrix *. Genetic hair loss Although minoxidil has been shown in numerous clinical studies to combat several different ...
Cookies help us deliver our services. By using our services, you agree to our use of cookies. ...
Madalas, kapag hindi nagbabago ng posisyon ang ulo ng bata sa pagtulog, at nakabaling lamang sa parehong direksyon parati, nagiging sanhi ito ng mabilis at maramihang paglalagas ng buhok sa bahaging nakadiin parati sa higaan.. Ito ay tinatawag rin naneonatal occipital alopecia o friction alopecia. Nangyayari ito kapag laging nakikiskis ang isang bahagi o side ng ulo ni baby sa kaniyang higaan, unan o stroller.. Madali naman itong solusyonan, bastat sanayin lamang si baby nang paiba-ibang baling ng ulo sa tuwing nakahiga o natutulog ito. Gayundin, kusa namang magbabago ito kapag kaya nang gumulong o mag-roll over ni baby pagdating ng ika-7 buwan.. Samantala, kahit pa tinukoy nating normal lamang ang pagnipis ng buhok ng sanggol sa loob ng hanggang anim o pitong buwan, at maaasahan ang pagtubo ng panibago, may ilang partikular na kondisyong pangkalusugan naman ang dapat pa ring bantayan ng mga magulang.. ...
Monilethrix. GWAS. Interacting Genes. 40 interacting genes: ADAM12 ANKS1A C11orf87 CEP57 CREB5 CYSRT1 GEM GNE GSTP1 HOXA1 KRT15 ...
The two major symptoms of Björnstad syndrome are pili torti and sensorineural hearing impairment.[7] These two symptoms typically appear before the age of 2 and are present in 80-99% of individuals with Björnstad syndrome.[4] Approximately 5-29% of individuals also experience intellectual disabilities and hypogonadism.[4] Cases showing lack of hair pigmentation and anhidrosis have also been documented.[4] Pili torti is a hair abnormality characterized by twisted hair shafts. In Björnstad syndrome patients, the hair usually appears dry, fragile, coarse, and is easily broken.[4] In some patients, hair abnormalities only affect hair on the head, although cases affecting eyebrows, eyelashes, and hair on other parts of the body have been documented. Weakening of the hair associated with pili torti also causes alopecia in approximately 80% of patients.[4] The severity of hearing loss associated with Björnstad syndrome varies. Some individuals are unable to hear sounds at certain frequencies, while ...
Monilethrix. KRT81, KRT83, KRT86 25. Cornea. Meessman juvenile epithelial corneal dystrophy. KRT3, KRT12 26. ...
monilethrix. *monocarboxylate transporter 8 (MCT8) deficiency, see Allan-Herndon-Dudley syndrome. *monosaccharide malabsorption ...
A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are generated with Walking RDF and OWL method ...
... monilethrix, scarring alopecia, and loose anagen hair syndrome. ...
KRT81/KRT83/KRT86 (Monilethrix). *Naegeli-Franceschetti-Jadassohn syndrome. *Reticular pigmented anomaly of the flexures ...
  • Mutations in the DSG4 gene have been found in people with monilethrix, a hair condition characterized by strands of hair with a beaded appearance. (medlineplus.gov)
  • In people with monilethrix, the cortex of the affected hair shaft appears abnormal. (medlineplus.gov)
  • Interestingly, in people with monilethrix, better hair growth seems to happen in the summertime, during puberty, and during pregnancy. (ro.co)
  • [ 17 ] A novel D323G mutation of the DSG4 gene was evident in a child with localized autosomal recessive hypotrichosis overlapped with monilethrix. (medscape.com)
  • It is unknown why some individuals with DSG4 gene mutations develop monilethrix and others develop autosomal recessive hypotrichosis (described above). (medlineplus.gov)
  • Trichoschisis, trichorrhexis invaginata, pili torti, and monilethrix are all abnormalities intrinsic to the hair shaft. (marie-monogatari.com)
  • Structural abnormalities associated with increased fragility include trichorrhexis invaginata (bamboo hair) , pili torti, monilethrix , and pseudomonilethrix. (medscape.com)
  • Results of genetic linkage analysis suggest that monilethrix is likely caused by a mutation in a hair keratin. (medscape.com)
  • Monilethrix is a genetic disorder. (ro.co)
  • An autosomal recessive form of monilethrix was found to be caused by mutations in the desmoglein 4 gene ( DSG4 ) while evaluating 12 Jewish families from Iraq, Iran, and Morocco, with microscopic findings of monilethrix, but with no evidence of vertical transmission. (medscape.com)
  • Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. (medlineplus.gov)
  • Monilethrix is caused by mutations affecting the genes KRTHB1 (KRT81), KRTHB3 (KRT83), or KRTHB6 (KRT86) which code for type II hair cortex keratins. (wikipedia.org)
  • There are several types of hair shaft abnormalities, including monilethrix and trichonodosis. (charlesmedicalgroup.com)
  • Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (medlineplus.gov)
  • Later epidermolytic palmoplantar keratoderma and pachyonychia congenita, white sponge naevus and very recently monilethrix and a phenotype resembling steatocystoma multiplex were elucidated. (coek.info)
  • Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. (nih.gov)
  • [ 13 ] Analysis for gene mutation in a Chinese mother and her daughter with monilethrix revealed heterozygous transition of c.1204G to A (p.E402K) of hHB6 and demonstrated that affected family members carried the p.E402K mutation. (medscape.com)
  • Nedoszytko B, Lewicka-Potocka Z, Szczerkowska-Dobosz A, Gleń J, Bykowska B, Świątecka-Czaj J, Nowicki R. Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene. (dermacompass.net)
  • Several mutations in the KRT86 gene can cause monilethrix, a hair condition characterized by strands of hair with a beaded appearance and short, brittle hair that breaks easily. (medlineplus.gov)
  • It appears as a thinning or baldness of hair and was first described in 1897 by Walter Smith Some indicators of monilethrix are small bumps on the skin, mainly on the scalp, neck and arms. (wikipedia.org)
  • Recent data imply that the pathogenesis of monilethrix is related to dysfunctional mutated DSG4 undergoing degradation, with unfolded protein response induction. (medscape.com)
  • Hairs affected by monilethrix show elliptical nodes separated by narrower internodes where the medulla is lacking. (medscape.com)
  • Severe cases of monilethrix can also effect finger and toe nails causing abnormal growth. (wikipedia.org)
  • Less severe cases of Monilethrix may only affect certain parts of the scalp, usually the back of the head and neck. (wikipedia.org)
  • Landau et al recently described an easy way to diagnose severe neonatal monilethrix. (medscape.com)
  • One should find single or paired beads of typical monilethrix hair. (medscape.com)
  • Monilethrix is a rare hair condition where the hair periodically thins and thickens, giving it the appearance of beads on a string (hence the origins of its name- monile means necklace and thrix means hair). (ro.co)
  • Similar to that of monilethrix, however the hair "beads" are flattened fibers with a rounded cross section. (stevens-trichology.com)
  • Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. (wikipedia.org)
  • Monilethrix can also cause keratosis pilaris (small bumps on the skin). (wikipedia.org)
  • [ 12 ] A missense mutation in the type II hair keratin hHb3 has been shown to be associated with monilethrix. (medscape.com)
  • To date, whether monilethrix is a disorder of the function or structure of the hair has not been determined. (medscape.com)
  • citation needed] If an affected parent and an unaffected parent have children, 75% of the time they will be affected by Monilethrix. (wikipedia.org)
  • The term monilethrix is derived from monile (Latin), which means necklace, and thrix (Greek), which means hair. (medscape.com)
  • Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix. (nih.gov)
  • Severe cases of monilethrix can also effect finger and toe nails causing abnormal growth. (wikipedia.org)
  • Less severe cases of Monilethrix may only affect certain parts of the scalp, usually the back of the head and neck. (wikipedia.org)
  • In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. (medlineplus.gov)
  • Mutations in the KRT81 gene, the KRT83 gene, the KRT86 gene, or the DSG4 gene account for most cases of monilethrix. (medlineplus.gov)
  • It is likely that human EpSCs will be useful in the treatment of diseases such as alopecias, ectodermal dysplasias, monilethrix, Netherton syndrome, Menkes disease and hereditary epidermolysis bullosa. (nature.com)
  • Monilethrix is a rare condition caused by a defect in the hair shaft resulting in hair which appears dry, dull, and brittle, and which breaks spontaneously or with mild trauma. (nih.gov)
  • People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily. (medlineplus.gov)
  • Brittle, dry hair in a teenager with monilethrix. (mhmedical.com)
  • Some people with monilethrix do not have a mutation in one of these genes. (medlineplus.gov)
  • Khandpur S, Bairwa NK, Reddy BS, Bamezai R. A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. (medscape.com)
  • Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. (nih.gov)
  • Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. (medscape.com)
  • Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. (nih.gov)
  • It appears as a thinning or baldness of hair and was first described in 1897 by Walter Smith Some indicators of monilethrix are small bumps on the skin, mainly on the scalp, neck and arms. (wikipedia.org)
  • Trichoscopy performed with a handheld dermoscope or a videodermoscope may be useful in distinguishing monilethrix from other scalp disorders. (medscape.com)
  • Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (medscape.com)
  • Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (medscape.com)
  • Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. (antibodies-online.com)
  • Mutations in this gene have been observed in patients with the hair disease monilethrix. (nih.gov)
  • Winter H, Vabres P, Larregue M, Rogers MA, Schweizer J. A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. (medscape.com)
  • Horev L, Glaser B, Metzker A, Ben-Amitai D, Vardy D, Zlotogorski A. Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. (medscape.com)
  • van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (medscape.com)
  • Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix. (medscape.com)
  • Stevens HP, Kelsell DP, Bryant SP: Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. (mhmedical.com)
  • Multiple inherited hair disorders including Menkes disease, monilethrix, and so forth. (unboundmedicine.com)
  • Monilethrix can also cause keratosis pilaris (small bumps on the skin). (wikipedia.org)
  • Monilethrix, or beaded hair, is an inherited condition whereby strands of hair take on the appearance of beads on a necklace when viewed under a microscope 1 . (surehair.com)
  • Individuals can be affected by hair loss (alopecia) (6), dandruff (7) and monilethrix, whereby individual strands get the appearance of a beaded necklace because of intermittent narrowing of the hair shaft (5). (vitable.com.au)
  • Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. (wikipedia.org)
  • This anomaly of the hair shaft occurs in normal hair, pili canaliculi, or monilethrix and has been associated with the mosaic trisomy 8 syndrome, pseudomonilethrix type II or protein deficiency states. (cdc.gov)
  • C) Microscopic image showing broken hair shafts at internode levels and monilethrix. (nih.gov)
  • Monilethrix with swollen (node) and narrow (internode) fluctuations in the hair bore. (rooksdermatology.com)
  • In people with monilethrix, the cortex of the affected hair shaft appears abnormal. (medlineplus.gov)
  • Vikramkumar AG, Kuruvila S, Ganguly S. Monilethrix: a rare hereditary condition. (medscape.com)
  • Although the symptoms of these syndromes may resemble ectodermal dysplasia, monilethrix does not belong to this group. (mhmedical.com)
  • Muramatsu S, Kimura T, Ueki R, Tsuboi R, Ikeda S, Ogawa H. Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. (medscape.com)
  • Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene. (medscape.com)
  • A new KRT86 mutation in a Chinese family with monilethrix. (medscape.com)
  • Occasionally, the skin and nails are involved in monilethrix. (medlineplus.gov)
  • The frequency of monilethrix is currently unknown. (wikipedia.org)
  • When Do Symptoms of Monilethrix Begin? (nih.gov)
  • The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). (medlineplus.gov)