Segmental stiff skin syndrome (SSS): A distinct clinical entity

A case of segmental stiff skin syndrome treated with systemic losartan

“…SSS has been linked to a mutation in the FBN1 gene, which limits activation and signaling of transforming growth factor beta (TGF‐β), creating profibrotic activity . An FBN1 mutation was not identified in the peripheral blood DNA of our patient.…”

“…Stiff skin syndrome is a rare, autosomal dominant, cutaneous disorder that presents at birth or during childhood. It is characterized by progressive, symmetric induration of the skin on the shoulders, hips, and thighs . Hyperpigmentation, hypertrichosis, gait abnormality, lordotic stance, and joint contracture have been described .…”

“…It is characterized by progressive, symmetric induration of the skin on the shoulders, hips, and thighs . Hyperpigmentation, hypertrichosis, gait abnormality, lordotic stance, and joint contracture have been described . Histologic findings include thickened collagen bundles, lack of inflammation, high connective tissue mucin levels and adipocyte entrapment, the last being a key finding for the diagnosis of SSS.…”

“…Histologic findings include thickened collagen bundles, lack of inflammation, high connective tissue mucin levels and adipocyte entrapment, the last being a key finding for the diagnosis of SSS. A segmental variant of SSS was proposed in a recent publication, with a later age of onset, less severe functional limitations, and lack of evolution into a generalized cutaneous disease.…”

Review of genodermatoses with characteristic histopathology and potential diagnostic delay

“…Patients have bilateral or unilateral thickening of the skin, particularly involving the shoulder or pelvic girdle areas (Figure A). Bilateral stiff skin syndrome generally has an average age of onset of ~1 to 2 years of age while unilateral/segmental stiff skin syndrome affects older children with an average age of onset of about 4 years of age .…”