| H00750 | |
| H number | H00750 |
| Name | Keratosis pilaris atrophicans |
| Description | Keratosis pilaris atrophicans (KPA) is a group of follicular syndromes characterised by inflammation and atrophy. Three clinical entities of KPA are described, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD) and atrophoderma vermiculatum (AV). |
| Category | Congenital malformation |
| Network | - |
| Gene | (KFSDX) MBTPS2 [HSA:51360] [KO:K07765] (KFSD) SAT1 [HSA:6303] [KO:K00657] (KPA) LRP1 [HSA:4035] [KO:K04550] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: ED56 ICD-10: Q82.8 MeSH: C536159 OMIM: 308800 612843 604093 |
| Reference | PMID:18984066 AUTHORS Castori M, Covaciu C, Paradisi M, Zambruno G TITLE Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. JOURNAL Eur J Med Genet 52:53-8 (2009) DOI:10.1016/j.ejmg.2008.09.005 PMID:18280351 AUTHORS Bellet JS, Kaplan AL, Selim MA, Olsen EA TITLE Keratosis follicularis spinulosa decalvans in a family. JOURNAL J Am Acad Dermatol 58:499-502 (2008) DOI:10.1016/j.jaad.2007.03.028 PMID:20672378 (KFSDX) AUTHORS Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT TITLE Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. JOURNAL Hum Mutat 31:1125-33 (2010) DOI:10.1002/humu.21335 PMID:12215835 (KFSD) AUTHORS Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M TITLE Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). JOURNAL Hum Genet 111:235-41 (2002) DOI:10.1007/s00439-002-0791-6 PMID:26142438 (KPA) AUTHORS Klar J, Schuster J, Khan TN, Jameel M, Mabert K, Forsberg L, Baig SA, Baig SM, Dahl N TITLE Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. JOURNAL J Med Genet 52:599-606 (2015) DOI:10.1136/jmedgenet-2014-102931 |