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Journal of the American Academy of Dermatology
Volume 66, n° 4
pages 606-616 (avril 2012)
Doi : 10.1016/j.jaad.2011.04.014
accepted : 21 April 2011
Original Articles

Ichthyosis prematurity syndrome: Clinical evaluation of 17 families with a rare disorder of lipid metabolism
 

Denis Khnykin, PhD a, Jørgen Rønnevig, PhD, MD b, Margareta Johnsson, MD c, Jan C. Sitek, MD b, Harm-Gerd K. Blaas, PhD, MD d, Ingrid Hausser, PhD e, Finn-Eirik Johansen, PhD a, Frode L. Jahnsen, PhD, MD a,
a Department of Pathology and Centre of Immune Regulation, Oslo University Hospital–Rikshospitalet and University of Oslo, Oslo, Norway 
b Department of Dermatology, Oslo University Hospital–Rikshospitalet and University of Oslo, Oslo, Norway 
c Department of Dermatology, Norwegian University of Science and Technology, St Olavs Hospital, Trondheim, Norway 
d National Center for Fetal Medicine, Children’s and Women’s Health Faculty of Medicine, Norwegian University of Science and Technology, St Olavs Hospital, Trondheim, Norway 
e Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany 

Reprint requests: Frode L. Jahnsen, PhD, MD, Department of Pathology, Oslo University Hospital–Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
Abstract
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 patients (n = 23) and light and electron microscopic examination of skin biopsy specimens were performed.

Results

IPS was characterized prenatally by ultrasound findings of polyhydramnios, separation of membranes, echogenic amniotic fluid, and clear chorionic fluid. All patients were born prematurely with sometimes life-threatening neonatal asphyxia; this was likely caused by aspiration of corneocyte-containing amniotic fluid as postmortem examination of lung tissue in two patients revealed keratin debris filling the bronchial tree and alveoli. The skin appeared erythrodermic, swollen, and covered by a greasy, thick vernix caseosa-like “scale” at birth, and evolved rapidly to a mild chronic ichthyosis. Many patients subsequently had chronic, severe pruritus. Histopathologic and ultrastructural examination of skin biopsy specimens showed hyperkeratosis, acanthosis, dermal inflammation, and characteristic aggregates of curved lamellar structures in the upper epidermis. Peripheral blood eosinophilia was invariably present and most patients had increased serum immunoglobulin E levels. Over 70% of the patients had a history of respiratory allergy and/or food allergy.

Limitations

The study included only 23 patients because of the rarity of the disease.

Conclusion

IPS is characterized by defined genetic mutations, typical ultrastructural skin abnormalities, and distinct prenatal and postnatal clinical features.

The full text of this article is available in PDF format.

Key words : allergy, asphyxia, autosomal recessive, clinical evaluation, eosinophilia, fatty acid transporter protein, inherited ichthyosis, pruritus



 Supported by South-Eastern Norway Regional Health Authority and the Norwegian Research Council and the Network for Ichthyoses and Related Keratinization Disorders National Central Registry for Ichthyoses and related Keratinization Disorders/Bundesministerium für Bildung und Forschung/Federal Ministry of Education and Research Federal Ministry of Education and Research (NIRK/BMBF) 01GM0904 (Dr Hausser).
 Conflicts of interest: None declared.



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