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Clinical presentation, sonographic features and treatment options of segmental stiff skin syndrome
Author(s) -
Quintana Castanedo L.,
Rodríguez Bandera A.I.,
Feito Rodríguez M.,
González García M.C.,
Stewart N.,
Lucas Laguna R.
Publication year - 2021
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.14394
Subject(s) - medicine , differential diagnosis , presentation (obstetrics) , ultrasonography , connective tissue disease , radiology , disease , connective tissue , dermatology , surgery , pathology , autoimmune disease
Summary Segmental stiff skin syndrome is a rare genetic connective tissue disease, which is often misdiagnosed. High‐frequency ultrasonography can represent a useful clinical adjunct in the differential diagnosis of this condition, in conjunction with the clinical and histopathological findings. Treatment options are limited and evidence is scarce. We present the clinical, sonographic and histological features of five paediatric patients diagnosed at our institution and discuss their response to treatment.