Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Orphanet Journal of Rare Diseases

André Mégarbané²  Hala Mégarbané¹ 

[1] Service de Dermatologie, Saint Georges Hospital, Beirut, Lebanon;Unité de Génétique Médicale et Laboratoire Associé INSERM UMR_S910, Université Saint-Joseph, Beirut, Lebanon

关键词: MBTPS2 gene;    X-linked;    Genodermatosis;    IFAP;   

Others  :  867918
DOI  :  10.1186/1750-1172-6-29

 received in 2010-12-11, accepted in 2011-05-21,  发布年份 2011

【 摘 要 】

The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. Skin histopathology is non-specific and consists of dilated hair follicles with keratin plugs extending above the surface of the skin, decreased or absent sebaceous glands, and decreased desmosomes in number and size. The disorder results from mutations in the MBTPS2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. Follicular hyperkeratosis can be treated using topical keratolytics, emollients and urea preparations. A moderate response to acitretin therapy has been noted in some patients. Intensive lubrication of the ocular surface is essential. Life expectancy in patients with IFAP syndrome can vary from death in the neonatal period to normal surviving. Cardiopulmonary complications remain the major cause of death.

【 授权许可】

   
2011 Mégarbané and Mégarbané; licensee BioMed Central Ltd.

【 图 表 】

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