Ichthyosis prematurity syndrome

Definition:

Ichthyosis prematurity syndrome is a form of syndromic congenital ichthyosis characterized by the premature birth, neonatal asphyxia, and epidermal cornification with desquamation. Patients with this disease harbor mutations in the gene encoding the fatty acid transport protein 4 (FATP4).

References:

[1]. Anette Bygum, et al. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. J Am Acad Dermatol. 2008 Nov;59(5 Suppl):S71-4. [Content Brief]

[2]. Denis Khnykin, et al. Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. J Am Acad Dermatol. 2012 Apr;66(4):606-16. [Content Brief]

[3]. Joakim Klar, et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet. 2009 Aug;85(2):248-53. [Content Brief]

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