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IFAP syndrome

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Definition

noun

A form of ichthyosis with symptoms such as alopecia and photophobia




Supplement

Ichthyosis is a skin disorder characterized by having a dry, thick, scaly skin. The scaly appearance of the skin is due to excessive skin keratinization or cornification. It has many forms and one of them is the IFAP syndrome.

IFAP syndrome is a genetic disorder that is extremely rare. Most of the cases indicate an X-linked recessive pattern of inheritance. The specific gene(s) causing this condition are not clear. However, it may be associated with a defective gene, MBTPS2. This gene codes for membrane-bound transcription factor site-2 protease (also known as site-2 protease). This enzyme catalyzes the release of N-terminal fragment of sterol regulatory element-binding protein transcription factors from the membrane. Since it is X-linked recessive disorder, the males are mostly affected because they have only one copy of the X chromosome. Nevertheless, there are reports of females affected with IFAP syndrome with full or partial manifestation of IFAP symptoms.1

The name is an acronym of the symptoms, ichtyosis follicularis (dry, scaly skin), alopecia (baldness), and photophobia (excessive light sensitivity).


Also called:

  • ichthyosis follicularis with alopecia and photophobia syndrome
  • ichthyosis follicularis

See also:


Reference(s):
1 IFAP Syndrome With Or Without Bresheck Syndrome. Retrieved from [[1]].