John Libbey Eurotext

European Journal of Dermatology

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IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient Volume 22, numéro 4, July-August 2012

Auteurs
Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Poland, Department of Dermatology, Edouard-Herriot Hospital Group, 69437 Lyon cedex 03, France, Department of Human Anatomy, Medical University of Lublin, Poland, Health Care Center Genomed, Warsaw, Poland, Department of Pediatric Radiology,, Department of Clinical Pathomorphology,, Department of Pediatric Orthopedics and Rehabilitation, Medical University of Lublin, Poland

Background: Ichthyosis Follicularis, Atrichia and Photophobia (IFAP) syndrome is a rare genodermatosis due to mutations of the MBTPS2 gene. To date fewer than 40 cases have been described in the literature. Objectives. To present the first case of IFAP diagnosed in Poland due to a novel mutation of MBTPS2, and to review the relevant literature on this rare genodermatosis. Materials & Methods: A 16-year-old male presented with typical clinical features of IFAP, along with psoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities and chorea-like movements. DNA analysis was performed in the patient and his clinically unaffected mother, maternal grandmother and sisters. Results: A novel missense mutation p.Cys334Tyr (c.1001G>A) was found in exon 8 of the MBTPS2 gene. This mutation was also found in his clinically unaffected mother and maternal grandmother, but not his healthy sisters. Conclusions: This patient with IFAP, the first described from Poland, is original by virtue of its extensive skeletal, cutaneous and neurologic manifestations and the novel missense mutation of the MBPTS2 gene. The identification of a novel mutation further expands the known MBPTS2 molecular repertoire and the spectrum of associated clinical findings.