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Ichthyosis follicularis with alopecia and photophobia syndrome

(Redirected from Ichthyosis follicularis atrichia photophobia syndrome)

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an extremely rare genetic syndrome caused by mutations in the MBTPS2 gene. [2]: 564  It is extremely rare: there were only 40 known cases (all male) until 2011.[3]

IFAP syndrome
Ichthyosis follicularis with alopecia and photophobia syndrome is inherited via X-linked recessive manner(though other forms of inheritance have occurred)[1]
SpecialtyMedical genetics Edit this on Wikidata

Symptoms and signs

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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.[4]

Genetics

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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.[1]

Diagnosis

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Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated.[5]

See also

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References

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  1. ^ a b "OMIM Entry - # 308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME". omim.org. Retrieved 21 July 2017.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ Mégarbané, Hala; Mégarbané, André (2011-05-21). "Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome". Orphanet Journal of Rare Diseases. 6: 29. doi:10.1186/1750-1172-6-29. ISSN 1750-1172. PMC 3127745. PMID 21600032.
  4. ^ OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosis follicularis, atrichia and photophobia
  5. ^ 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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