Keratosis follicularis spinulosa decalvans

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Classification and external resources
OMIM 308800

Keratosis follicularis spinulosa decalvans (also known as "Siemens-1 syndrome") is a rare X-linked disorder described by Siemens in 1926, 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]

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  4. ^ 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.