Literature DB >> 16836505

Stiff skin syndrome.

S Geng1, X Lei, J P Toyohara, P Zhan, J Wang, S Tan.   

Abstract

Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features.

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Year:  2006        PMID: 16836505     DOI: 10.1111/j.1468-3083.2006.01619.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN: 0926-9959            Impact factor:   6.166


  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.  Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis.

Authors:  Jacopo Olivieri; Silvia Smaldone; Francesco Ramirez
Journal:  Fibrogenesis Tissue Repair       Date:  2010-12-02

Review 4.  Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.

Authors:  Tao Wang; Yuyan Yang; Qi Dong; Huijuan Zhu; Yuehua Liu
Journal:  Mol Genet Genomic Med       Date:  2020-05-14       Impact factor: 2.183

  4 in total

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