Ichthyosis follicularis with alopecia and photophobia syndrome

Symptoms and signs

The main symptoms are given by its name: dry, scaly skin (ichthyosis), absence of hair (atrichia) and excessive sensitivity to light (photophobia). Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections.

Genetics

Most cases are X-linked recessive but there may be as many as three types. As well as a classical X-linked form, there is another type where females are partially affected and another where females have full IFAP symptoms. It is caused by mutations in the MBTPS2 gene.

Diagnosis

Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.

References

References

1. "OMIM Entry - # 308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME".
2. James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN. 0-7216-2921-0.
3. (2011-05-21). "Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome". Orphanet Journal of Rare Diseases.
4. OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, [https://web.archive.org/web/20100308033258/http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308205 Ichthyosis follicularis, atrichia and photophobia]
5. Boente M del, Bibas-Bonet H, Coronel AM, Asial RA; [http://www.john-libbey-eurotext.fr/en/revues/medecine/ejd/e-docs/00/01/89/8B/article.phtml Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?], European Journal of Dermatology. Volume 10, Number 2, 98-102, March 2000