Abstract
Segmental stiff skin syndrome: a review of the literature and authors’ experiences
- Department of Methodology, Medical University of Warsaw, Warsaw, Poland
- Department of Dermatology, Medical University of Warsaw, Warsaw, Poland
Introduction:
Stiff skin syndrome is a rare scleroderma-like disorder, which manifests with non-inflammatory skin fibrosis. The lesions exhibit a stone-like texture, hypertrichosis, and reduced joint mobility.
Material and methods:
A review of the English literature was conducted by searching PubMed and Embase using the key word: stiff skin syndrome. Furthermore, a new case of segmental stiff skin syndrome was identified based on the clinico-pathological correlation.
Results:
This paper summarizes 50 literature reports considering stiff skin syndrome and the authors’ experiences based on the newly reported case.
Conclusions:
Stiff skin syndrome should be considered in patients with early-onset skin fibrosis, hypertrichosis, and joint contractures. While most cases of widespread stiff skin syndrome involve heterozygous FBN1 alterations, the segmental form may constitute a form of cutaneous mosaicism with unknown genetic background.
Keywords
cutaneous mosaicism, dermatopathology, scleroderma-like disorders, stiff skin syndrome
Coverage in
Integrated with
