Geroderma osteodysplasticum

Definition:

Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been discovered in SCYL1BP1, which localizes to the Golgi apparatus and is expressed in skin and osteoblasts.

References:

[1]. Anna Rajab, et al. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet A. 2008 Apr 15;146A(8):965-76. [Content Brief]

[2]. Eva Morava, et al. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110. [Content Brief]

[3]. Hans Christian Hennies, et al. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet. 2008 Dec;40(12):1410-2. [Content Brief]

[4]. Yeşerin Yildirim, et al. The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. Am J Med Genet A. 2011 Jan;155A(1):134-40. [Content Brief]

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