IFAP syndrome | |
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Ichthyosis follicularis with alopecia and photophobia syndrome is inherited via X-linked recessive manner(though other forms of inheritance have occurred) [1] | |
Specialty |
Medical genetics
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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]
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]
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]
Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated. [5]
IFAP syndrome | |
---|---|
![]() | |
Ichthyosis follicularis with alopecia and photophobia syndrome is inherited via X-linked recessive manner(though other forms of inheritance have occurred) [1] | |
Specialty |
Medical genetics
![]() |
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]
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]
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]
Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated. [5]