Ichthyosis Follicularis with Alopecia and Photophobia in a Mother and Daughter
January 2000
in “
British journal of dermatology/British journal of dermatology, Supplement
”
ichthyosis follicularis alopecia photophobia follicular hyperkeratosis non-scarring alopecia hyperkeratosis nail deformity cheilitis keratotic inflammatory eruptions acanthosis dyskeratosis spongiotic changes desmosomes hair loss skin thickening nail changes lip inflammation skin eruptions skin cell thickening skin cell death skin swelling cell connections
TLDR A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
A mother and daughter with ichthyosis follicularis with alopecia and photophobia (IFAP) were studied over 26 years. They exhibited classical symptoms such as severe photophobia, extensive follicular hyperkeratosis, generalized non-scarring alopecia, hyperkeratosis on the extremities, nail deformity, and recurrent cheilitis. The mother experienced keratotic inflammatory eruptions in the genital region during pregnancies, which resolved post-delivery. Histopathological and electron microscopic examinations revealed marked acanthosis, dyskeratosis, spongiotic changes, and damaged desmosomes in diseased skin, while normal skin showed no significant changes. Their facial features were similar to previously reported IFAP cases.
