- Uncombable hair syndrome
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Uncombable hair syndrome Classification and external resources ICD-10 Q84.1 (ILDS Q84.130) OMIM 191480 DiseasesDB 32703 Uncombable hair syndrome, also known as Pili trianguli et canaliculi,[1]:639 Spun-glass hair,[2] and Cheveux incoiffables,[3]:765 is a rare structural anomaly of the hair with a variable degree of effect. It was discovered in the 1970s.[4] It becomes apparent from as little as 3 months to up to 12 years.
Contents
Presentation
The hair is normal in quantity and is usually silvery-blond or straw-colored. It is disorderly, it stands out from the scalp, and cannot be combed flat. The underlying structural anomaly is longitudinal grooving of the hair shaft, which appears triangular in cross section. There usually is no family history, though the characteristic hair shaft anomaly can be demonstrated in asymptomatic family members by scanning electron microscopy. To be noticeable, 50 % of hairs must be affected by the structural abnormality. Improvement often occurs in later childhood.[5][6] An autosomal dominant mode of inheritance has been suggested though an autosomal recessive pattern with varying degrees of penetrance has also been noted.[4][5] The stiffness of the uncombable hair has been reasoned to be due to the triangular form of the hair shaft in cross section. It has been suggested that the condition may result from premature keratinization of the inner root sheath.[5]
History
A possible case of uncombable hair syndrome was reported in 1912 by A.F. Le Double and F. Houssay.[7] The syndrome was described in 1973 by A. Dupré, P. Rochiccioli and J.L. Bonafé, who named it "cheveux incoiffables".[7] Later that year it was independently described as "spun-glass hair" by J.D. Stroud and A.H. Mehregan.[7]
Similar conditions
Other syndromes with hair abnormalities may also show features of uncombable hair syndrome such as Rapp-Hodgkin ectodermal dysplasia syndrome, loose anagen syndrome, EEC syndrome (ectodermal dysplasia, ectrodatyly and cleft lip/palate) and familial tricho-odonto-onychial ectodermal dysplasia with syndactyly. However unlike these conditions, uncombable hair syndrome alone is not associated with physical, neurologic, or mental abnormalities.[4]
See also
References
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ a b c Hicks J, Metry DW, Barrish J, Levy M (2001). "Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis". Ultrastruct Pathol 25 (2): 99–103. doi:10.1080/019131201750222176. PMID 11407534.
- ^ a b c ORPHANET - About rare diseases - About orphan drugs
- ^ Uncombable hair syndrome
- ^ a b c Calderon, Pamela; Otberg, Nina; Shapiro, Jerry (September 2009). "Uncombable Hair Syndrome". Journal of the American Academy of Dermatology 61 (3): 512–515. doi:10.1016/j.jaad.2009.01.006
External links
- Uncombable hair syndrome at NIH's Office of Rare Diseases
Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5) Nail disease Hair disease hypotrichosis/abnormalities: keratin disease (Monilethrix) · IBIDS syndrome · Sabinas brittle hair syndrome · Pili annulati · Pili torti · Uncombable hair syndrome · Björnstad syndrome · Giant axonal neuropathy with curly hair
hypertrichosis: Zimmermann–Laband syndromeCategories:- Conditions of the skin appendages
- Genetic disorders with OMIM but no gene
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