Sudden loss of total-body hair due to faulty gene triggered by stress

Sudden Loss of Total-Body Hair Due to Faulty Gene Triggered by Stress

Advancement in genetic diagnostics by next-generation sequencing (NGS) for rare genetic conditions has brought about a revolution in detection of rare conditions and has helped in prevention of the same disorder in children.

Karan’s Story

A 30-year-old professional, who we will call Karan, suddenly suffered severe hair loss — not just scalp balding but loss of complete body hair, including eyebrows, eyelashes, moustache, beard, pubic hair, and hair on the armpits. He also showed mild deformity of fingernails and hyperpigmentation of knuckles and elbows. Doctors gave him a diagnosis of ‘Alopecia Universalis’, likely triggered by environmental factors such as stress and immune system abnormalities.

For a young man like Karan, the sudden loss of all body hair was very embarrassing and distressing. He had, sadly, faced stigmatisation not only at work but also with friends and extended family. If there was one thing he was certain of, it was that he did not want his future children to go through the same distressing experiences he did.

The Genetic Diagnosis

Karan reached out to our Board Certified Genetic Counsellors at MapmyGenome with three questions: Was the hair loss caused by faulty genes? Would his hair grow back over time? And could he pass on this condition to his children?

Our genetic counselling expert identified the right genetic testing plan. NGS-based genetic testing of multiple genes revealed a novel mutation in the GJB6 gene, known to be associated with Clouston syndrome — characterised by total and complete hair loss, abnormal development of nails, and darkening of skin at joint areas.

This genetic condition is inherited in a dominant fashion, meaning each of Karan’s children had a 1 in 2 (50%) chance of inheriting his non-working copy of the GJB6 gene. Karan and his wife were counselled about the chance for their children and other relatives to be affected by the same condition. Appropriate referrals were made for routine ophthalmology review, as eye-related complications are common in patients with this genetic condition.

The Key Learning

While we may all have several faulty genes in us, some of them need a certain external trigger to get switched on or switched off. These external factors could be mental or physical stress, bacterial/viral infections, atmospheric conditions, dietary habits, lifestyle, and environmental pollutants or chemicals — as in Karan’s case, where sudden total hair loss occurred during the time he had lost his job.