جستجوی مقالات مرتبط با کلیدواژه « autosomal recessive disease » در نشریات گروه « پزشکی »

Atrichia with papular lesions (APL) is a rare autosomal recessive disease caused by a genetic mutation in the human hairless gene’s zinc finger domain. It suddenly appears in the first months after birth and causes irreversible hair loss and keratin cysts on the head, face, and other body parts. Our patient is a 31-year-old female of a consanguineous marriage living in a deprived and remote city of Iran. She suffered from total hair loss and papules spreading all over the body. The patient showed no signs of other physical or mental health issues; she also had healthy physical growth and standard eyesight and hearing. Bone and teeth development were developed, and sweat glands were also robust. APL was diagnosed based on the clinical findings (total hair loss, emergence of papules, morbidity over the body from early childhood, and hypopigmented suture-like lines on the scalp), standard laboratory tests rejecting other differential diagnoses, and lack of response to all available treatments.