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Stiff-skin syndrome in Infant/Neonate
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Stiff-skin syndrome in Infant/Neonate

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Contributors: Alejandro Cortes, Abhinav Reddy, Susan Burgin MD
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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.

For more information, see OMIM.

Codes

ICD10CM:
R23.4 – Changes in skin texture

SNOMEDCT:
399904002 – Infantile stiff skin syndrome

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Last Updated: 03/29/2017
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Stiff-skin syndrome in Infant/Neonate
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Stiff-skin syndrome : Bilateral, Buttocks, Decreased range of motion, Hypertrichosis, Thickened skin, Thighs, Sclerotic skin
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