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Stiff skin syndrome in Infant/Neonate
Other Resources UpToDate PubMed

Stiff skin syndrome in Infant/Neonate

Contributors: Alejandro Cortes, Abhinav Reddy, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Stiff skin syndrome (SSS) is a rare inherited fibrosing disorder that presents in infancy or early childhood. It is characterized by stone-hard induration of the skin of the buttocks and thighs and less frequently of the shoulder girdle, trunk, and more distal parts of the extremities with subsequent limited joint mobility with flexion contractures. Mild hypertrichosis and mild hyperpigmentation of involved skin may also be seen. Lumbar lordosis, scoliosis, a tiptoe gait, and short stature are frequently observed. Restrictive pulmonary function, nerve entrapment secondary to associated nodules that overlie joints, and ophthalmoplegia are rarely reported.

SSS may be familial and inherited. In the reported kindreds with SSS, the disorder is inherited in an autosomal dominant manner and mutations in the fibrilllin-1 (FBN1) gene have been identified.

A segmental variant that is milder and of later onset has been recently characterized.

Codes

ICD10CM:
R23.4 – Changes in skin texture

SNOMEDCT:
399904002 – Infantile stiff skin syndrome

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Last Updated:01/24/2022
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Stiff skin syndrome in Infant/Neonate
Stiff skin syndrome : Bilateral distribution, Buttocks, Decreased range of motion, Hypertrichosis, Thickened skin, Thighs, Sclerotic skin
Copyright © 2022 VisualDx®. All rights reserved.