Ichthyosis Prematurity Syndrome: From Fetus to Adulthood

Published on Sep 1, 2016in JAMA Dermatology7.738
· DOI :10.1001/JAMADERMATOL.2016.1187
Su M. Lwin10
Estimated H-index: 10
('KCL': King's College London),
Chao Kai Hsu20
Estimated H-index: 20
('KCL': King's College London)
+ 2 AuthorsJohn A. McGrath86
Estimated H-index: 86
('KCL': King's College London)
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Ichthyosis prematurity syndrome (IPS; OMIM608649) is a rare autosomal recessive disorder of cornification caused by mutations in fatty acid transport protein four gene (FATP4) 1, 2. Key features of IPS are premature delivery, thick caseous desquamating epidermis and respiratory symptoms at the time of birth, which recover into a lifelong ichthyosis with severe itching 3. IPS is mainly described in the Scandinavian population; however a few reports in entirely distinct populations have been publi...
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Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive disorder characterized by prematurity, a thick caseous scale at birth and lifelong atopic diathesis. Here, we describe the first Japanese case of IPS and report novel compound heterozygous mutations (p.C403Y and p.R510H) in fatty acid transport protein 4 (FATP4). She is the first reported patient of Asian origin, entirely distinct from the Scandinavian population, in whom the heterozygote carrier frequency is very high.
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Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.
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Background Ichthyosis prematurity syndrome (IPS) is classified as a syndromic congenital ichthyosis based on the presence of skin changes at birth, ultrastructural abnormalities in the epidermis, and extracutaneous manifestations. Recently, mutations in the fatty acid transporter protein 4 gene have been identified in patients with IPS. Objective We sought to perform a detailed clinical evaluation of patients with IPS identified in Norway. Methods Clinical examination and follow-up of all patien...
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Background Ichthyosis Prematurity Syndrome (IPS) is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4) and a specific reduction in the incorporation of very long chain fatty acids (VLCFA) into cellular lipids.
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