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Correspondence |

Ichthyosis Prematurity Syndrome Caused by a Novel Fatty Acid Transport Protein 4 Gene Mutation in a German Infant

Oliver Inhoff, MD; Ingrid Hausser, PhD; Stefan W. Schneider, MD, PhD; Denis Khnykin, PhD; Frode L. Jahnsen, PhD; Johann Sartoris, MD; Sergij Goerdt, MD, PhD; Wiebke K. Peitsch, MD
Arch Dermatol. 2011;147(6):750-752. doi:10.1001/archdermatol.2011.139.
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Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive congenital ichthyosis characterized by the clinical triad of premature birth, scaly erythroderma, and neonatal asphyxia in combination with pathognomonic ultrastructural findings.1

Oji  VTadini  GAkiyama  M  et al.  Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 2010;63 (4) 607- 641
PubMed Link to Article[[XSLOpenURL/10.1016/j.jaad.2009.11.020]]
Klar  JSchweiger  MZimmerman  R  et al.  Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 2009;85 (2) 248- 253
PubMed Link to Article[[XSLOpenURL/10.1016/j.ajhg.2009.06.021]]
Bygum  AWestermark  PBrandrup  F Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. J Am Acad Dermatol 2008;59 (5) ((suppl)) S71- S74
PubMed Link to Article[[XSLOpenURL/10.1016/j.jaad.2008.06.014]]
Morice-Picard  FLéauté-Labrèze  CDécor  A  et al.  A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis. Am J Med Genet A 2010;152A (10) 2664- 2665
PubMed Link to Article[[XSLOpenURL/10.1002/ajmg.a.v152a:10]]
Herrmann  Tvan der Hoeven  FGröne  HJ  et al.  Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. J Cell Biol 2003;161 (6) 1105- 1115
PubMed Link to Article[[XSLOpenURL/10.1083/jcb.200207080]]
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Figure 1.

Clinical features. A, Erythroderma with loose ichthyosiform desquamation 9 days after birth; the skin appears waxy and thickened, and palms show hyperlinearity. B, Marked improvement of the skin condition at age 15 weeks; only mild dryness and a faint erythema on the abdomen are still noticeable.

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Figure 2.

Microscopic images. Bars indicate 50 μm. A, Methylene blue–stained semithin section of a skin biopsy specimen from the buttocks, showing an orthohyperkeratotic corneal layer with lentiform swollen lamellae and a 2- to 3-layer stratum granulosum containing strikingly lucid globular cells. B-D, Electron micrographs presenting deposits of lipid membranes within the lamellae of the corneal layer; all bars indicate 1 μm. Cells of the granular layer appear remarkably translucent in perinuclear regions. C, In this higher magnification, the membranous aggregates, pathognomonic for ichthyosis prematurity syndrome, sometimes exhibit a trilamellar structure (arrows). D, Irregular membranous and vesicular material is seen in the granular layer.

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