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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Hala Mégarbané1, André Mégarbané

  • 1Service de Dermatologie, Saint Georges Hospital, Beirut, Lebanon. megarbane@usj.edu.lb

Orphanet Journal of Rare Diseases
|May 24, 2011
PubMed

Insights

Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) syndrome is a rare genetic disorder caused by MBTPS2 gene mutations. It affects cholesterol homeostasis and endoplasmic reticulum stress, impacting skin, development, and life expectancy.

Area of Science:

  • Genetics
  • Dermatology
  • Biochemistry

Background:

  • Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) syndrome is a rare X-linked genetic disorder.
  • Characterized by a triad of Ichthyosis Follicularis, Alopecia, and Photophobia present from birth.
  • Associated features include short stature, intellectual disability, and seizures.

Purpose of the Study:

  • To summarize the key features, underlying genetic cause, and management of IFAP syndrome.
  • To highlight the molecular basis involving MBTPS2 gene mutations.
  • To discuss treatment options and prognosis.

Main Methods:

  • Review of clinical case reports and genetic studies on IFAP syndrome.
  • Analysis of skin histopathology findings.
  • Examination of the molecular mechanisms related to MBTPS2 gene function.

Main Results:

  • IFAP syndrome results from mutations in the MBTPS2 gene, affecting cholesterol homeostasis and ER stress.
  • Skin histopathology shows follicular hyperkeratosis, reduced sebaceous glands, and altered desmosomes.
  • Treatment involves topical agents, emollients, and potentially acitretin; ocular lubrication is crucial.

Conclusions:

  • IFAP syndrome is a complex genetic disorder with significant clinical manifestations.
  • MBTPS2 gene mutations are the primary cause, impacting cellular stress responses.
  • Management requires a multidisciplinary approach, and life expectancy varies, with cardiopulmonary complications being a major concern.

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