KEGG   DISEASE: Keratosis pilaris atrophicans
Entry
H00750                      Disease                                
Name
Keratosis pilaris atrophicans
  Subgroup
Keratosis follicularis spinulosa decalvans (KFSD)
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00750  Keratosis pilaris atrophicans
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 pilaris atrophicans
Gene
(KFSD) MBTPS2 [HSA:51360] [KO:K07765]
(KFSD) SAT1 [HSA:6303] [KO:K00657]
(KPA) LRP1 [HSA:4035] [KO:K04550]
Other DBs
ICD-11: ED56
ICD-10: Q82.8
MeSH: C536159
OMIM: 308800 612843 604093
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
Reference
  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
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