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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#1Renu George (Christian Medical College & Hospital)H-Index: 13
#2Sridhar Santhanam (Christian Medical College & Hospital)H-Index: 6
Last. Denis Khnykin (Oslo University Hospital)H-Index: 11
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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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#1Ikuya Tsuge (Fujita Health University)H-Index: 24
#2Masashi MorishitaH-Index: 1
Last. Hiroki Kurahashi (Fujita Health University)H-Index: 53
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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.
5 CitationsSource
#1Clare KielyH-Index: 1
#2Deirdre DevaneyH-Index: 2
Last. Alan D. Irvine (Trinity College, Dublin)H-Index: 73
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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.
12 CitationsSource
#1Denis Khnykin (Oslo University Hospital)H-Index: 11
#2Jørgen Rønnevig (Oslo University Hospital)H-Index: 1
Last. Frode L. Jahnsen (Oslo University Hospital)H-Index: 48
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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...
41 CitationsSource
#1Maria Sobol (KNU: Taras Shevchenko National University of Kyiv)H-Index: 9
#2Niklas Dahl (Science for Life Laboratory)H-Index: 30
Last. Joakim Klar (Science for Life Laboratory)H-Index: 32
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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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#1Joakim Klar (Uppsala University)H-Index: 32
#2Martina Schweiger (University of Graz)H-Index: 28
Last. Judith FischerH-Index: 49
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Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibroblasts derived from a patient with IPS show reduced activity of very long-chain fatty acids (VLCFA)-CoA synthetase and a specific reduction in the incorporation of VLCFA into cellu...
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The skin is a flexible organ that forms a barrier between the environment and the body's interior, involved in immune response, protection and regulation, and is a dynamic environment in which skin lipids play an important role in maintaining homeostasis. The different layers of skin differ in the composition and amount of lipids. The epidermis is best characterised in this respect. The main lipids in this layer are cholesterol, fatty acids and ceramides. Fatty acids can occur in free form and a...
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#1Yuling Zhang (Heidelberg University)H-Index: 2
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Fatty acid transport protein 4 (FATP4) belongs to a family of acyl-CoA synthetases which activate long-chain fatty acids into acyl-CoAs subsequently used in specific metabolic pathways. Patients with FATP4 mutations and Fatp4-null mice show thick desquamating skin and other complications, however, FATP4 role on macrophage functions has not been studied. We here determined whether the levels of macrophage glycerophospholipids, sphingolipids including ceramides, triacylglycerides, and cytokine rel...
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#1Hilal Al Mandhari (Sultan Qaboos University)H-Index: 1
#2Buthaina Al-Musalhi (Sultan Qaboos University)H-Index: 2
Last. Denis Khnykin (Oslo University Hospital)H-Index: 11
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Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa-like scales. In this report, we present the clinical and molecular characterization of IPS in two Oma...
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#2Anders Vahlquist (Uppsala University)H-Index: 50
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These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering th...
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