| IFAP syndrome | |
| Classification and external resources | |
| ICD-10 | Q80.3 |
|---|---|
| OMIM | 308205 |
| eMedicine | / |
IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis.[1]:564 It is extremely rare: there were only 10 known cases (all male) in 1998.[2]
Contents |
Symptoms
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. [2]
Genetics
Most cases are
Diagnosis
Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.[3]
See also
References
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ a b c OMIM (Online Mendelian Inheritance in Man), John Hopkins University, Ichthyosis follicularis, atrichia and photophobia
- ^ Boente M del, Bibas-Bonet H, Coronel AM, Asial RA; 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
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