Stiff skin syndrome
SSS may be familial and inherited. In the reported kindreds with SSS, the disorder is inherited in an autosomal dominant manner and mutations in the fibrilllin-1 (FBN1) gene have been identified.
A segmental variant that is milder and of later onset has been recently characterized.
R23.4 – Changes in skin texture
399904002 – Infantile stiff skin syndrome
Differential Diagnosis & Pitfalls