TY - JOUR
T1 - Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients
AU - Cambiaghi, Stefano
AU - Barbareschi, Mauro
AU - Tadini, Gianluca
PY - 2002/5/1
Y1 - 2002/5/1
N2 - The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.
AB - The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.
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U2 - 10.1067/mjd.2002.112930
DO - 10.1067/mjd.2002.112930
M3 - Article
C2 - 12004300
AN - SCOPUS:0036586848
VL - 46
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
SN - 0190-9622
IS - 5 SUPPL.
ER -