KEGG   DISEASE: Restrictive dermopathy
Entry
H00663                      Disease                                
Name
Restrictive dermopathy
Description
Restrictive dermopathy (LD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00663  Restrictive dermopathy
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Skin disorders involving specific cutaneous structures
   Disorders of the dermis and subcutis
    Disorders of cutaneous connective tissue
     Fibromatoses and keloids
      EE6Y  Other specified fibromatous disorders of skin and soft tissue
       H00663  Restrictive dermopathy
Related
pathway
hsa00900  Terpenoid backbone biosynthesis
Gene
LMNA [HSA:4000] [KO:K12641]
ZMPSTE24 [HSA:10269] [KO:K06013]
Other DBs
ICD-11: EE6Y
ICD-10: Q82.8
MeSH: C536920
OMIM: 275210
Reference
PMID:19020898
  Authors
Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimaraes H
  Title
Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
  Journal
Eur J Pediatr 168:1007-12 (2009)
DOI:10.1007/s00431-008-0868-x
Reference
PMID:9217218
  Authors
Mau U, Kendziorra H, Kaiser P, Enders H
  Title
Restrictive dermopathy: report and review.
  Journal
Am J Med Genet 71:179-85 (1997)
DOI:10.1002/(SICI)1096-8628(19970808)71:2<179::AID-AJMG11>3.0.CO;2-B
Reference
PMID:1605246
  Authors
Verloes A, Mulliez N, Gonzales M, Laloux F, Hermanns-Le T, Pierard GE, Koulischer L
  Title
Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.
  Journal
Am J Med Genet 43:539-47 (1992)
DOI:10.1002/ajmg.1320430308
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