جستجوی مقالات مرتبط با کلیدواژه « alopecia universalis » 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.

Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated with the phenotype of the disease. A consanguineous couple who had a child with the generalized atrichia sign referred to us for genetic counseling. According to the patient's symptoms and after thorough examination and history taking, the HR gene was the candidate gene to be assessed and analyzed. For this purpose targeted primers were designed for all exons of the HR gene followed by running PCR for exons amplification. Finally, the PCR products were sequenced. Whole-gene sequence analysis revealed a nonsense homozygous mutation in exon 6 that, according to the ACMG guide, is a pathogenic variant. Sequence analysis of the exon in parents reveals that they are heterozygout for the non-sense mutation, as well.

Skin manifestations can herald, co-exist, or follow the evolution of inflammatory bowel disease (IBD). We report a middle-aged man with recent onset alopecia universalis and a history of intermittent diarrheal attacks for 6 years. Colonscopy and biopsy sampling confirmed ulcerative colitis. Regrowth of hair was achieved by treating the patient with azathioprine and mesalamine. Clinicians have to be aware that a multitude of skin manifestations with history of diarrhea can be an extraintestinal manifestation of IBD such as ulcerative colitis and this warrants further investigation.