From Wikipedia, the free encyclopedia
Medical condition
Keratosis follicularis spinulosa decalvans is a rare X-linked disorder described by
Siemens in 1926. It is a disease that begins in infancy with
keratosis pilaris localized on the face, then evolves to more diffuse involvement.
[1] : 580, 762
[2] : 649, 714
[3]
An association with
SAT1 has been suggested.
[4]
See also
References
^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders.
ISBN
0-7216-2921-0 .
^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill.
ISBN
0-07-138076-0 .
^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby.
ISBN
978-1-4160-2999-1 .
^ Gimelli, G.; Giglio, S.; Zuffardi, O.; Alhonen, L.; Suppola, S.; Cusano, R.; Lo Nigro, C.; Gatti, R.; et al. (Sep 2002). "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)". Hum Genet . 111 (3): 235–41.
doi :
10.1007/s00439-002-0791-6 .
PMID
12215835 .
S2CID
23842885 .
External links