Ichthyosis follicularis with alopecia and photophobia syndrome
April 17, 2024
IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis.[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]
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]
Geneticsedit
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. The gene or genes causing this disease are not known.[4]
^"OMIM Entry - # 308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME". omim.org. Retrieved 21 July 2017.
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN0-7216-2921-0.
^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. PMC3127745. PMID 21600032.
^ abOMIM (Online Mendelian Inheritance in Man), Johns 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
April 17, 2024
ichthyosis, follicularis, with, alopecia, photophobia, syndrome, ifap, syndrome, extremely, rare, genetic, syndrome, also, known, ichthyosis, follicularis, alopecia, photophobia, syndrome, simply, ichthyosis, follicularis, extremely, rare, there, were, only, k. IFAP syndrome is an extremely rare genetic syndrome It is also known as Ichthyosis follicularis alopecia and photophobia syndrome or simply ichthyosis follicularis 2 564 It is extremely rare there were only 40 known cases all male until 2011 3 IFAP syndromeIchthyosis follicularis with alopecia and photophobia syndrome is inherited via X linked recessive manner though other forms of inheritance have occurred 1 SpecialtyMedical genetics Contents 1 Symptoms and signs 2 Genetics 3 Diagnosis 4 See also 5 ReferencesSymptoms and signs editThe 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 editMost 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 The gene or genes causing this disease are not known 4 Diagnosis editDiagnosis 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 editCicatricial alopecia List of cutaneous conditionsReferences edit OMIM Entry 308205 IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME omim org Retrieved 21 July 2017 James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders ISBN 0 7216 2921 0 Megarbane Hala Megarbane Andre 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 a b OMIM Online Mendelian Inheritance in Man Johns 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 Retrieved from https en wikipedia org w index php title Ichthyosis follicularis with alopecia and photophobia syndrome amp oldid 1188034189, wikipedia, wiki, book, books, library,
