Monilethrix (MNLIX)

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Disease Ontology 12 DOID:0050472 OMIM 57 158000 KEGG 37 H00670 MeSH 44 D056734 NCIt 50 C84894 SNOMED-CT 68 69488000 ICD10 33 Q84.1

MESH via Orphanet 45 D056734 ICD10 via Orphanet 34 Q84.1 UMLS via Orphanet 73 C0546966 Orphanet 59 ORPHA573 MedGen 42 C0546966 UMLS 72 C0546966

OMIM : ⁵⁷ 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. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006). An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006). The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006). (158000)

MalaCards based summary : Monilethrix, also known as beaded hair, is related to hypotrichosis 6 and hypotrichosis 8. An important gene associated with Monilethrix is KRT86 (Keratin 86), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include cortex and skin, and related phenotypes are abnormality of the nail and hypotrichosis

Disease Ontology : ¹² An autosomal dominant disease that is characterized by short, easily broken hair that results in alopecia and has material basis in mutations in genes for type II hair cortex keratins.

Genetics Home Reference : ²⁵ Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily. Affected individuals usually have normal hair at birth, but the hair abnormalities develop within the first few months of life. In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. In more severe cases, hair over the whole scalp can be affected, as well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and legs. Occasionally, the skin and nails are involved in monilethrix. Some affected individuals have a skin condition called keratosis pilaris, which causes small bumps on the skin, especially on the scalp, neck, and arms. Affected individuals may also have abnormal fingernails or toenails.

NIH Rare Diseases : ⁵³ 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. The age of onset, severity, and course may vary from person to person.

KEGG : ³⁷ Monilethrix is a disease of the hair cortex characterized by an unusually deformed hair shaft and alopecia. It has been named for the beaded appearance of affected hairs. Mutations in type II hair follicle-specific keratins lead to monilethrix.

UniProtKB/Swiss-Prot : ⁷⁴ Monilethrix: A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.

Wikipedia : ⁷⁵ Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

Clinical features from OMIM:

158000

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Search GEO for disease gene expression data for Monilethrix.