Keratosis follicularis spinulosa decalvans
(Redirected from Ichthyosis, keratosis follicularis spinulosa Decalvans)
| Keratosis follicularis spinulosa decalvans | |
|---|---|
| Other names | Siemens-1 syndrome |
| Specialty | Medical genetics |
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
[edit]References
[edit]- ^ 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
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