Segmental stiff skin syndrome (SSS): A distinct clinical entity

Abstract

Background: Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles.

Objective: We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases.

Methods: This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search.

Results: Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups.

Limitations: This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases.

Conclusions: We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features.

Keywords: adipocyte entrapment; congenital fascial dystrophy; fibrillin-1; fibrosis; segmental stiff skin syndrome; stiff skin syndrome.