Literature DB >> 14708109

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

Hala Mégarbané1, Cynthia Zablit, Naji Waked, Gérard Lefranc, Roland Tomb, André Mégarbané.   

Abstract

Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes. Copyright 2003 Wiley-Liss, Inc.

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Year:  2004        PMID: 14708109     DOI: 10.1002/ajmg.a.20352

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  7 in total

1.  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?

Authors:  Mohammad Alshami; Mohammed A Bawazir; Ausama A Atwan
Journal:  J Dermatol Case Rep       Date:  2011-03-26

Review 2.  Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

Authors:  Chayim Schell-Apacik; Michael Hardt; Birgit Ertl-Wagner; Eva Klopocki; Matthias Möhrenschlager; Uwe Heinrich; Hubertus von Voss
Journal:  Eur J Pediatr       Date:  2008-01-17       Impact factor: 3.183

3.  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

Review 4.  Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

Authors:  Hala Mégarbané; André Mégarbané
Journal:  Orphanet J Rare Dis       Date:  2011-05-21       Impact factor: 4.123

5.  A Case of IFAP Syndrome with Severe Atopic Dermatitis.

Authors:  Catarina Araújo; Miguel Gonçalves-Rocha; Cristina Resende; Ana Paula Vieira; Celeste Brito
Journal:  Case Rep Med       Date:  2015-01-21

6.  Hirschsprung's disease associated with alopecia universalis congenita: a case report.

Authors:  Sushma Malik; Mani Singhal; Shruti Sudhir Jadhav; Charusheela Sujit Korday; Chitra Shivanand Nayak
Journal:  J Med Case Rep       Date:  2016-09-15

7.  Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.

Authors:  Aldona Pietrzak; Bartlomiej Wawrzycki; Matthias Schmuth; Katarzyna Wertheim-Tysarowska
Journal:  Orphanet J Rare Dis       Date:  2022-02-16       Impact factor: 4.123

  7 in total

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