Skip to Main content Skip to Navigation
Journal articles

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

Abstract : 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.
Document type :
Journal articles
Complete list of metadatas

Cited literature [29 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00663654
Contributor : Ed. Bmc <>
Submitted on : Friday, January 27, 2012 - 1:59:34 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:08 PM
Long-term archiving on: : Monday, November 19, 2012 - 3:00:57 PM

Files

1750-1172-6-29.pdf
Publisher files allowed on an open archive

Identifiers

Collections

Citation

Hala Mégarbané, André Mégarbané. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.. Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.29. ⟨10.1186/1750-1172-6-29⟩. ⟨inserm-00663654⟩

Share

Metrics

Record views

382

Files downloads

806