Literature DB >> 7727838

Stiff skin syndrome: a case report and review of the literature.

Y Gilaberte1, M C Sáenz-de-Santamaria, F J García-Latasa, I González-Mediero, A Zambrano.   

Abstract

Stiff skin syndrome (SSS) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild hypertrichosis. We present a severe case in a 4-year-old boy. In addition to the clinical and histological features of SSS, our patient also had muscle and bone involvement along with pyloric stenosis, gastro-esophageal reflux, inguinal hernias and atopic dermatitis. We highlight the complexity of this case and the diagnostic approach to patients with this disorder. We also review and summarize the 24 cases previously reported in the literature.

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Year:  1995        PMID: 7727838     DOI: 10.1159/000246666

Source DB:  PubMed          Journal:  Dermatology        ISSN: 1018-8665            Impact factor:   5.366


  4 in total

1.  The ocular phenotype of stiff-skin syndrome.

Authors:  S Chamney; B Cartmill; O Earley; V McConnell; C E Willoughby
Journal:  Eye (Lond)       Date:  2015-10-16       Impact factor: 3.775

2.  Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Authors:  B L Loeys; E E Gerber; D Riegert-Johnson; S Iqbal; P Whiteman; V McConnell; C R Chillakuri; D Macaya; P J Coucke; A De Paepe; D P Judge; F Wigley; E C Davis; H J Mardon; P Handford; D R Keene; L Y Sakai; H C Dietz
Journal:  Sci Transl Med       Date:  2010-03-17       Impact factor: 17.956

3.  Stiff skin syndrome versus scleroderma: a report of two cases.

Authors:  V F Azevedo; S Z Serafini; B Werner; C S Müller; C F M Franchini; R L S L Morais
Journal:  Clin Rheumatol       Date:  2009-05-05       Impact factor: 2.980

4.  Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.

Authors:  Carmela Fusco; Grazia Nardella; Bartolomeo Augello; Francesca Boccafoschi; Orazio Palumbo; Luca Fusaro; Angelantonio Notarangelo; Raffaela Barbano; Paola Parrella; Giuseppina Annicchiarico; Carmela De Meco; Lucia Micale; Paolo Graziano; Marco Castori
Journal:  Int J Mol Sci       Date:  2020-07-20       Impact factor: 5.923

  4 in total

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