KEGG DISEASE: Stiff skin syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H01173  Stiff skin syndrome

Pathway

Cytoskeleton in muscle cells

TGF-beta signaling pathway

Network

nt06539 Cytoskeleton in muscle cells

Gene

FBN1 [HSA:2200] [KO:K06825]

Other DBs

ICD-11:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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