 Monilethrix
"Monilethrix" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D056734
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| MeSH Number(s) |
C16.131.077.592 C16.320.850.647 C17.800.329.984 C17.800.827.602
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| Concept/Terms |
Monilethrix- Monilethrix
- Monilethrices
- Nodose Hair
- Hair, Nodose
- Hairs, Nodose
- Nodose Hairs
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Below are MeSH descriptors whose meaning is more general than "Monilethrix".
Below are MeSH descriptors whose meaning is more specific than "Monilethrix".
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Below are the most recent publications written about "Monilethrix" by people in Profiles.
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Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet. 2017 03; 54(3):186-189.
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