Monilethrix
Microscopy, Electrochemical, Scanning
Keratins, Type II
Keratins, Hair-Specific
Desmogleins
Hair
Keratins
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.
Monilethrix
List of OMIM disorder codes
Keratin disease
Dermatoscopy
Lidia Rudnicka
Trichoscopy
KRT83
KRT86
KRT81
List of skin conditions
List of diseases (M)
Hair disease
Raymond Sabouraud
Monilethrix - Wikipedia
Monilethrix: Practice Essentials, Pathophysiology, Epidemiology
DermaCompass - Monilethrix
DSG4 gene: MedlinePlus Genetics
KRT86 gene: MedlinePlus Genetics
Monilethrix Hair Condition: Causes, Treatment, Prevention | Ro
Does Rogaine Work?
Population Genetics and Statistics for Forensic Analysts | Glossary | National Institute of Justice
IndexCat
1972-38-1 - Indian Journal of Dermatology, Venereology and Leprology
1998-64-5 - Indian Journal of Dermatology, Venereology and Leprology
Dermatology | Journal of Medical Genetics
The Idiot's Guide To Marie Official Hair Care Clinic Explained | Beauty Hair Marie
Erythrokeratodermia Variabilis et Progressiva: Practice Essentials, Pathophysiology, Epidemiology
Hair loss, balding, hair shedding, alopecia | DermNet
Everything You Need To Know About Hair Diseases - The Disability Doc
Hair Shaft Defect
Specific PHGKB|Rare Diseases PHGKB|PHGKB
Scalp Hair Characteristics in the Newborn Infant
Nioxin vs. Rogaine: Which is Better for Hair Loss? | hims
ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities - wikidoc
Nalalagas Ang Buhok Ng Baby Ko, Anong Dapat Kong Gawin?
KRT83 - Wiki-MPM
Björnstad syndrome - WikiProjectMed
A REVIEW: "SKIN-RELATED RARE DISEASES: PACHYONYCHIA CONGENITAL" | INTERNATIONAL JOURNAL OF PHARMACEUTICAL SCIENCES AND RESEARCH
herenciageneticayenfermedad: Health Conditions - Genetics Home Reference: M | Published: March 7, 2017
Bio2Vec
Low-Dose Oral Minoxidil for Hair Growth
People with monilethrix3
- 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)
Autosomal recessive hypotrichosis2
- [ 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)
Pili torti2
- 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)
Genetic2
- 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)
Mutations in the desmoglein2
- 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)
Caused by mutations1
- 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)
Nodose1
- Monilethrix is also known as nodose hair. (medscape.com)
Abnormalities1
- There are several types of hair shaft abnormalities, including monilethrix and trichonodosis. (charlesmedicalgroup.com)
Phenotype2
- 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)
Alopecia1
- 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)
Gene3
- [ 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)
18971
- 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)
DSG41
- Recent data imply that the pathogenesis of monilethrix is related to dysfunctional mutated DSG4 undergoing degradation, with unfolded protein response induction. (medscape.com)
Nodes1
- Hairs affected by monilethrix show elliptical nodes separated by narrower internodes where the medulla is lacking. (medscape.com)
Severe3
- 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)
Beads3
- 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)
Affects1
- Monilethrix that affects the entire scalp. (medscape.com)
Rare1
- 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)
Skin1
- Monilethrix can also cause keratosis pilaris (small bumps on the skin). (wikipedia.org)
Treatment1
- No specific treatment exists for monilethrix. (wikipedia.org)
Shown1
- [ 12 ] A missense mutation in the type II hair keratin hHb3 has been shown to be associated with monilethrix. (medscape.com)
Function1
- To date, whether monilethrix is a disorder of the function or structure of the hair has not been determined. (medscape.com)
Time1
- citation needed] If an affected parent and an unaffected parent have children, 75% of the time they will be affected by Monilethrix. (wikipedia.org)
Means1
- The term monilethrix is derived from monile (Latin), which means necklace, and thrix (Greek), which means hair. (medscape.com)
Form of monilethrix1
- Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix. (nih.gov)
Cases of monilethrix4
- 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)
Ectodermal dysplasias1
- 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)
Brittle3
- 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)
Genes3
- 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)
Hypotrichosis2
- 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)
Scalp2
- 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)
Mutations4
- 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)
Keratin5
- 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)
Menkes1
- Multiple inherited hair disorders including Menkes disease, monilethrix, and so forth. (unboundmedicine.com)
Keratosis pilaris1
- Monilethrix can also cause keratosis pilaris (small bumps on the skin). (wikipedia.org)
Strands2
- 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)
Autosomal1
- 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)
Pili1
- 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)
Internode2
- 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)
Cortex1
- In people with monilethrix, the cortex of the affected hair shaft appears abnormal. (medlineplus.gov)
Hereditary1
- Vikramkumar AG, Kuruvila S, Ganguly S. Monilethrix: a rare hereditary condition. (medscape.com)
Inheritance1
- Monilethrix can have multiple patterns of inheritance. (medlineplus.gov)
Syndromes1
- Although the symptoms of these syndromes may resemble ectodermal dysplasia, monilethrix does not belong to this group. (mhmedical.com)
Mutation3
- 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)
Nails1
- Occasionally, the skin and nails are involved in monilethrix. (medlineplus.gov)
Frequency1
- The frequency of monilethrix is currently unknown. (wikipedia.org)
Symptoms1
- When Do Symptoms of Monilethrix Begin? (nih.gov)
Necklace1
- The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). (medlineplus.gov)
Condition1
- Monilethrix is a condition that affects hair growth. (medlineplus.gov)
Unknown1
- The prevalence of monilethrix is unknown. (medlineplus.gov)