Monilethrix (MNLIX)

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Disease Ontology 12 DOID:0050472 OMIM 58 158000 KEGG 38 H00670 MeSH 45 D056734 NCIt 51 C84894 SNOMED-CT 69 69488000 ICD10 34 Q84.1

MESH via Orphanet 46 D056734 ICD10 via Orphanet 35 Q84.1 UMLS via Orphanet 75 C0546966 Orphanet 60 ORPHA573 MedGen 43 C0546966 SNOMED-CT via HPO 70 128306009 17790008 191526005 193570009 228156007 238629004 247053007 247546006 247578003 25159003 263681008 278040002 386806002 402341008 422775003 53602002 56317004 56558005 58214004 81845009 87065009 91138005 more UMLS 74 C0546966

OMIM : ⁵⁸ 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, skin and eye, 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 : ²⁶ 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.

NIH Rare Diseases : ⁵⁴ 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.

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...

Clinical features from OMIM:

158000

Search Clinical Trials , NIH Clinical Center for Monilethrix

Search GEO for disease gene expression data for Monilethrix.