A Case of IFAP Syndrome with Severe Atopic Dermatitis
January 2015
in “
Case reports in medicine
”
TLDR A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
The document described a case of a three-month-old Caucasian male with IFAP syndrome, characterized by follicular ichthyosis, atrichia, and photophobia, confirmed by a novel missense mutation in the MBTPS2 gene. The patient exhibited universal alopecia, severe atopic dermatitis, dystrophic nails, developmental delays, and other clinical manifestations such as seizures and multiple organ anomalies. Despite treatment with moisturizers and topical steroids, the patient experienced persistent pruritic lesions. The study highlighted the phenotypic variability of IFAP syndrome and the significant impact on patients and their families, emphasizing the need for a multidisciplinary approach to manage the condition.
