75 citations
,
September 1985 in “Archives of dermatology” This report of ichthyosis follicularis in two boys discusses the challenges of distinguishing it from similar disorders, noting its rarity and unclear inheritance pattern without providing new clinical results.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
40 citations
,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” In this case report, a 3-year-old male with IFAP syndrome showed moderate improvement in skin symptoms and corneal erosions but no change in alopecia or photophobia after 6 months of acitretin therapy.
36 citations
,
January 2000 in “British journal of dermatology/British journal of dermatology, Supplement” This case study reports on a mother and daughter with ichthyosis follicularis, alopecia, and photophobia, noting consistent keratotic eruptions during the mother's pregnancies that improved postpartum.
14 citations
,
December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.