KEGG   DISEASE: Keratosis follicularis spinulosa decalvansHelp
Entry
H00750                      Disease                                

Name
Keratosis follicularis spinulosa decalvans
Description
Keratosis follicularis spinulosa decalvans (KFSD) is a rare genodermatosis characterized by hyperkeratotic follicular papules with progressive alopecia of the scalp and photophobia. It is initially described as a sex-linked disorder with typical palmoplantar keratoderma, but autosomal dominant form with marked erythema has been observed as well.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00750  Keratosis follicularis spinulosa decalvans
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Skin disorders involving specific cutaneous structures
   Disorders of the epidermis and epidermal appendages
    Disorders of epidermal keratinisation
     ED56  Keratosis pilaris
      H00750  Keratosis follicularis spinulosa decalvans
BRITE hierarchy
Gene
(X-linked) MBTPS2 [HSA:51360] [KO:K07765]
(X-linked) SAT1 [HSA:6303] [KO:K00657]
Other DBs
ICD-11: ED56
ICD-10: Q82.8
MeSH: C536159
OMIM: 308800
Reference
  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
Reference
  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
Reference
  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
Reference
  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

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