Stiff skin syndrome

Definition:

Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant fascia on the thighs and buttocks. SSS is caused by mutations in the Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 that mediates integrin binding.

References:

[1]. B L Loeys, et al. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17;2(23):23ra20. [Content Brief]

[2]. S Geng, et al. Stiff skin syndrome. J Eur Acad Dermatol Venereol. 2006 Jul;20(6):729-32. [Content Brief]

[3]. Theodore Liu, et al. The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. Arch Dermatol. 2008 Oct;144(10):1351-9. [Content Brief]

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