Literature DB >> 16268889

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

S Khandpur1, R Bhat, M Ramam.   

Abstract

We describe a 3-year-old male patient with the ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome, who developed cutaneous and ocular involvement in infancy. In addition, he had growth retardation and borderline intelligence; no other systemic involvement was found on detailed investigation. A moderate response to acitretin therapy (1 mg/kg) administered for 6 months was observed, with improvement in cutaneous features and corneal erosions and no change in alopecia or photophobia.

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Year:  2005        PMID： 16268889     DOI： 10.1111/j.1468-3083.2005.01318.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


  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

2.  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 3.  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

4.  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

5.  A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.

Authors:  Yanyun Jiang; Hongzhong Jin; Yueping Zeng
Journal:  Mol Genet Genomic Med       Date:  2019-06-18       Impact factor: 2.183

6.  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

7.  Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.

Authors:  Andrea L Zaenglein; Moise L Levy; Nicole S Stefanko; Latanya T Benjamin; Anna L Bruckner; Keith Choate; Brittany G Craiglow; John J DiGiovanna; Lawrence F Eichenfield; Peter Elias; Philip Fleckman; Leslie P Lawley; Richard A Lewis; Anne W Lucky; Erin F Mathes; Leonard M Milstone; Amy S Paller; Sonali S Patel; Dawn H Siegel; Joyce Teng; Sherry A Tanumihardjo; Lauren Thaxton; Mary L Williams
Journal:  Pediatr Dermatol       Date:  2020-11-10       Impact factor: 1.588
  7 in total

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