Literature DB >> 21886760

Photoletter to the editor: A new variant of ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome with coexisting psoriasiform lesions and palmoplantar keratoderma. IFAP-PPK syndrome?

Mohammad Alshami1, Mohammed A Bawazir, Ausama A Atwan.   

Abstract

IFAP is an acronym for a rare congenital ectodermal disorder characterized by ichthyosis follicularis, alopecia and photophobia. A recessive X-linked mode of inheritance was initially proposed but recent reports in girls suggested genetic heterogeneity of this syndrome. We herein describe a 1-year-old boy with clinical features typical of IFAP syndrome plus psoriasis-like lesions and palmoplantar keratoderma (PPK).

Entities:  

Year:  2011        PMID: 21886760      PMCID: PMC3163350          DOI: 10.3315/jdcr.2011.1064

Source DB:  PubMed          Journal:  J Dermatol Case Rep        ISSN: 1898-7249


  5 in total

1.  Ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. Variant of IFAP syndrome or a new entity?

Authors:  Vandana Mehta Rai; S D Shenoi
Journal:  Dermatol Online J       Date:  2005-12-01

2.  Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin.

Authors:  S Khandpur; R Bhat; M Ramam
Journal:  J Eur Acad Dermatol Venereol       Date:  2005-11       Impact factor: 6.166

3.  Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.

Authors:  Elias Traboulsi; Naji Waked; Hala Mégarbané; André Mégarbané
Journal:  Ophthalmic Genet       Date:  2004-06       Impact factor: 1.803

Review 4.  Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.

Authors:  Hala Mégarbané; Cynthia Zablit; Naji Waked; Gérard Lefranc; Roland Tomb; André Mégarbané
Journal:  Am J Med Genet A       Date:  2004-01-30       Impact factor: 2.802

5.  IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Authors:  Frank Oeffner; Gayle Fischer; Rudolf Happle; Arne König; Regina C Betz; Dorothea Bornholdt; Ulrike Neidel; María del Carmen Boente; Silke Redler; Javier Romero-Gomez; Aïcha Salhi; Angel Vera-Casaño; Christian Weirich; Karl-Heinz Grzeschik
Journal:  Am J Hum Genet       Date:  2009-04       Impact factor: 11.025

  5 in total
  2 in total

Review 1.  Shedding light on photophobia.

Authors:  Kathleen B Digre; K C Brennan
Journal:  J Neuroophthalmol       Date:  2012-03       Impact factor: 3.042

2.  Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome: A Case Report and Review of Cases Reported from India.

Authors:  Anupama Bains; Deepak Vedant; Anurag Verma; Abhishek Bhardwaj; Aasma Nalwa
Journal:  Indian Dermatol Online J       Date:  2019-11-01
  2 in total

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