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June 2011

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

Author Affiliations

Author Affiliations: Departments of Dermatology (Drs Inhoff, Schneider, Goerdt, and Peitsch) and Pediatrics (Dr Sartoris), University Medical Centre Mannheim, University of Heidelberg, Mannheim, Germany; Department of Dermatology and Electron Microscopy Core Facility, University of Heidelberg, Heidelberg, Germany (Dr Hausser); LIIPAT, Department of Pathology and Center of Immune Regulation, Oslo University Hospital, Rikshospitalet and University of Oslo, Oslo, Norway (Drs Khnykin and Jahnsen).

Arch Dermatol. 2011;147(6):750-752. doi:10.1001/archdermatol.2011.139

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

A male infant, the second child of nonconsanguineous German parents with an unrevealing family history, was delivered preterm at gestational week 34 + 0 secondary to amniorrhexis. Amniotic fluids were viscous and greenish. The infant's skin was covered by crumbly vernix caseosa and appeared erythrodermic, but no collodion membrane was seen. Immediately after delivery, the patient had asphyxia and required intubation. Chest radiography showed bilateral atelectases. On physical examination, scaly erythroderma, palmar and plantar hyperlinearity (Figure 1A), and large amounts of cerumen were noted, but no blisters, erosions, or nail or hair abnormalities. Diagnostic findings for associated malformations remained unremarkable. Results of a full-account blood screen, including IgE assay, were normal except for transient eosinophilia (differential eosinophil count, 11.1%; reference range, 0%-6%).

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