Document Detail


The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature.
MedLine Citation:
PMID:  18936399     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity. OBSERVATIONS: We describe 6 children who fit criteria for stiff skin syndrome. A review of the clinical range of this disorder and discussion of the differential diagnosis is presented. The age at onset in our cases ranged from infancy to 6 years of age. Stony-hard skin was noted mostly on the thighs, buttocks, and lower back with shoulder and arm involvement in 2 cases. There was associated hypertrichosis in 3 of 6 cases. Extracutaneous manifestations consisted primarily of joint restriction, and several patients had resulting postural and thoracic wall irregularities. Histopathologically, our cases showed areas of fascial sclerosis or showed increased fibroblast cellularity with thickened, sclerotic, horizontally oriented collagen bundles in the deep reticular dermis and/or subcutaneous septa without associated inflammation. CONCLUSIONS: Stiff skin syndrome is characterized by an early, insidious onset of stony-hard skin, often with associated contracturelike joint restriction, hypertrichosis, and postural and thoracic wall abnormalities. Supportive histopathologic findings consisting of either fascial sclerosis or increased fibroblast cellularity with sclerotic collagen bundles in the deep reticular dermis and/or subcutaneous septa may help to confirm this diagnosis.
Authors:
Theodore Liu; Timothy H McCalmont; Ilona J Frieden; Mary L Williams; M Kari Connolly; Amy E Gilliam
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Archives of dermatology     Volume:  144     ISSN:  1538-3652     ISO Abbreviation:  Arch Dermatol     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-10-21     Completed Date:  2008-11-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372433     Medline TA:  Arch Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1351-9     Citation Subset:  AIM; IM    
Affiliation:
The Permanente Medical Group, San Francisco, California, USA.
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MeSH Terms
Descriptor/Qualifier:
Age Distribution
Biopsy, Needle
Child
Child, Preschool
Disease Progression
Fascia / abnormalities,  pathology*
Female
Humans
Immunohistochemistry
Incidence
Joint Diseases / congenital*,  drug therapy,  epidemiology
Male
PUVA Therapy
Penicillamine / administration & dosage
Prognosis
Risk Assessment
Sampling Studies
Scleroderma, Diffuse / congenital*,  drug therapy,  epidemiology,  pathology*
Sex Distribution
Syndrome
Treatment Outcome
Chemical
Reg. No./Substance:
52-67-5/Penicillamine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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