Clinical presentation, sonographic features and treatment options of segmental stiff skin syndrome
L. Quintana‐Castanedo, Ana Isabel Rodríguez Bandera, Marta Feito Rodríguez, María Carrillo García, Nick A. Stewart, Raúl de Lucas Laguna
Abstract
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.
Topics & Concepts
MedicineDifferential diagnosisPresentation (obstetrics)UltrasonographyConnective tissue diseaseRadiologyDiseaseConnective tissueDermatologySurgeryPathologyAutoimmune diseaseEosinophilic Disorders and SyndromesDermatological and Skeletal DisordersAutoimmune Bullous Skin Diseases