KEGG   DISEASE: Stiff skin syndrome
Entry
H01173                      Disease                                

Name
Stiff skin syndrome
Description
Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant fascia on the thighs and buttocks. SSS is caused by mutations in the Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 that mediates integrin binding.
Category
Skin disease
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H01173  Stiff skin syndrome
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
       H01173  Stiff skin syndrome
Related
pathway
hsa04350 TGF-beta signaling pathway   
Gene
FBN1 [HSA:2200] [KO:K06825]
Other DBs
ICD-11: EE6Y
MeSH: C566112
OMIM: 184900
Reference
  Authors
Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
  Title
The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature.
  Journal
Arch Dermatol 144:1351-9 (2008)
DOI:10.1001/archderm.144.10.1351
Reference
  Authors
Geng S, Lei X, Toyohara JP, Zhan P, Wang J, Tan S
  Title
Stiff skin syndrome.
  Journal
J Eur Acad Dermatol Venereol 20:729-32 (2006)
DOI:10.1111/j.1468-3083.2006.01619.x
Reference
  Authors
Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC
  Title
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
  Journal
Sci Transl Med 2:23ra20 (2010)
DOI:10.1126/scitranslmed.3000488

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