Vietnamese girl has unique combination of diseases

The girl, who lives in the southern province of Binh Phuoc, began to lose her hair at the age of 2, and was complete bald by the age of 8, according to her family. She also had a bump on her neck, as well as yellow papules around her neck, armpits and arms.

In August 2021, she went to Nguyen Tri Phuong Hospital in HCMC to have her neck bump diagnosed, and testing showed that she had calcinosis cutis and alopecia totalis.

After doctors got her neck bump under control, she was transferred to the Ho Chi Minh City University Medical Center in March 2022. Doctor Hoang Van Minh from the hospital’s hemangioma center ordered genetic tests for the girl, which revealed mutations in her RBM28 gene.

Most cases of calcinosis cutis have something to do with Down syndrome, and mostly affect child patients between age 6 and 13. There have only been six recorded cases of calcinosis cutis without the presence of Down syndrome, and the case of this Vietnamese girl, where mutations at the RBM28 gene, along with alopecia totalis and hyperthyroidism, are involved, has proven to be the first such case recorded in medical history, according to Minh.

The case been reported to the American Academy of Dermatology and will be presented at an international conference on dermatology in March this year.

The girl is currently under treatment and her hyperthyroidism is under control. After nine months of treatment, her hair has also begun to grow back. However, Minh warned that her conditions may recur if they are not monitored and treated frequently.