Clinical presentation, sonographic features and treatment options of segmental stiff skin syndrome: a case series.
Segmental stiff skin syndrome (SSSS) 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 5 paediatric patients diagnosed at our institution and we discuss their response to treatment.