Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.
IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis. It is caused by loss of function of the gene MBTPS2. Its severity varies and there are only a few reports in the literature. We present a patient with characteristic clinical features and a mutation not previously reported.
Pediatric Dermatology Section, Hospital Ramos Mejía. Buenos Aires, Argentina. brunoferraripiel@gmail.com.
Bruno
B
Ferrari
Lucila
L
Morita
Keith
K
Choate
Rong-Hua
RH
Hu
D000505:Alopecia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics; D020795:Photophobia / Q000175:diagnosis* / Q000235:genetics
D008666:Metalloendopeptidases; C120654:MBTPS2 protein, human