title: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York.
authors.forename: Kathryn L
authors.initials: KL
authors.lastname: Myers
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York.
authors.forename: Adnan
authors.initials: A
authors.lastname: Mir
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York.
authors.forename: Julie V
authors.initials: JV
authors.lastname: Schaffer
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York.
authors.forename: Shane A
authors.initials: SA
authors.lastname: Meehan
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York.
authors.forename: Seth J
authors.initials: SJ
authors.lastname: Orlow
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York. Electronic address: nooshin.brinster@nyumc.org.
authors.forename: Nooshin K
authors.initials: NK
authors.lastname: Brinster
mesh_terms: D000293:Adolescent; D000367:Age Factors; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003286:Contracture / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D016059:Range of Motion, Articular; D012189:Retrospective Studies; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology*
keywords: adipocyte entrapment; congenital fascial dystrophy; fibrillin-1; fibrosis; segmental stiff skin syndrome; stiff skin syndrome