Details of Disease

General Information of Disease (ID: DISM2Z81)

• Disease Name: Stiff skin syndrome
• Synonyms: STIFF skin syndrome; SSKS; stiff skin syndrome
• Definition: A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.
• Disease Hierarchy:
  DISSCALK: Hereditary skin disorder
  DISM2Z81: Stiff skin syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008492
  MESH ID: C566112
  UMLS CUI: C1861456
  OMIM ID: 184900
  MedGen ID: 348877
  Orphanet ID: 2833
  SNOMED CT ID: 765187004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBN1	OTYCJT63	Strong	Autosomal dominant	[1]

References

• [1] Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17;2(23):23ra20. doi: 10.1126/scitranslmed.3000488.