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eISSN: 2084-9893
ISSN: 0033-2526
Dermatology Review/Przegląd Dermatologiczny
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SCImago Journal & Country Rank
3/2024
vol. 111
 
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abstract:
Review article

Segmental stiff skin syndrome: a review of the literature and authors’ experiences

Bartłomiej Roszkowski
1, 2
,
Leszek Blicharz
2
,
Aneta Durmaj
2
,
Martyna Smolińska
2
,
Joanna Czuwara
2
,
Małgorzata Olszewska
2
,
Lidia Rudnicka
2

  1. Department of Methodology, Medical University of Warsaw, Warsaw, Poland
  2. Department of Dermatology, Medical University of Warsaw, Warsaw, Poland
Dermatol Rev/Przegl Dermatol 2024, 111, 222-229
Online publish date: 2024/11/08
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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



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