Monilethrix

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OMIM 57 158000 Disease Ontology 12 DOID:0050472 ICD10 33 Q84.1 MeSH 44 D056734 NCIt 50 C84894 SNOMED-CT 68 205596006 276482004 69488000 Orphanet 59 ORPHA573

UMLS via Orphanet 74 C0546966 MESH via Orphanet 45 D056734 ICD10 via Orphanet 34 Q84.1 MedGen 42 C0546966 KEGG 37 H00670 SNOMED-CT via HPO 69 263681008 422775003 128306009 193570009 247053007 53602002 56558005 228156007 247578003 91138005 278040002 56317004 17790008 247546006 25159003 238629004 402341008 81845009 87065009 386806002 191526005 58214004 more UMLS 73 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 skin and cortex, and related phenotypes are intellectual disability and cataract

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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.

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.

Wikipedia : ⁷⁶ 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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