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

Ophthalmic Genetics

Volumn 25, Issue 2, 2004, Pages 153-156

  Traboulsi, Elias I ^a   Waked, Naji ^b   Mégarbané, Hala ^b   Mégarbané, André ^c  

^a LERNER RESEARCH INSTITUTE   (United States)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

Alopecia; Carrier; Ichthyosis follicularis; Keratitis; X linked

Indexed keywords

CASE REPORT; CHILD; CORNEA VASCULARIZATION; DISEASE COURSE; DISEASE SEVERITY; HETEROZYGOTE; HUMAN; KERATOPATHY; MALE; OPHTHALMOSCOPY; PHOTOPHOBIA; PRIORITY JOURNAL; REVIEW; VISUAL IMPAIRMENT; YARROWIA;

ABNORMALITIES, MULTIPLE; ALOPECIA; CHILD; FUNDUS OCULI; HUMANS; ICHTHYOSIS; MALE; PHOTOPHOBIA; RETINAL VESSELS; SIBLINGS; SYNDROME;

YARROWIA;

EID: 6344280019     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1080/13816810490514405     Document Type: Review

References (7)

1. MacLeod JMH. Three cases of 'ichthyosis follicularis' associated with baldness. Br J Dematol. 1909;21:165-189.
2. Cursiefen C, Schlötzer-Schrehardt U, Holbach LM, Pfeiffer RA, Naumann GOH. Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome. Arch Ophthalmol. 1999;117:681-684.
3. König A, Happle R. Linear lesions reflecting lionization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). Am J Med Genet. 1999;85:365-368.
4. Sato-Matsumura KC, Matsumura T, Kumakiri M, Hosokawa K, Nakamura H, Kobayashi H, Ohkawara A. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter. Br J Dermatol. 2000;142:157-162.
5. Del C Boente M, Bibas-Bonet H, Coronel AM, Asial RA. Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome. Eur J Dermatol. 2000;10:98-102.
6. Cambiaghi S, Barbareschi M, Tadini G. Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. J Am Acad Dermatol. 2002;46:S156-158.
7. Megarbane H, Zablit C, Waked N, Lefranc G, Tomb R, Megarbane A. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome: report of a new family with additional features and review. Am J Med Genet. 2004;124A:323-327.