'Only 130 cases': Rare diagnosis behind man’s changing skin colour

Josh Dutton
·News Reporter
·2-min read

A man has been given a rare diagnosis after seeing doctors due to “hyperpigmentation” of his skin.

The man, 19, from Morocco, had darkened skin on his upper thighs, genitals, trunk and limbs, according to the case in the British Medical Journal Reports.

Doctors noted he also had hypertrichosis, which is another name for excessive hair growth, and was short in stature.

He underwent a physical examination and doctors noted he had a bulging eye and a number of “musculoskeletal abnormalities” including flat feet and scoliosis.

Biopsies of his skin showed “chronic” inflammation around his blood vessels but there were no signs of him having an autoimmune disease.

A man, 19, pictured with a dark skin pigmentation due to a genetic mutation known as H syndrome.
A man, 19, from Morocco, presented to doctors with 'hyperpigmentation' of the skin. Source: British Medical Journal

Doctors also couldn’t find any “cardiac abnormalities” either and after a number of considerations requested genetic testing.

With all the abnormalities, it was determined the 19-year-old had a rare genetic mutation known as H syndrome.

“To date, 130 cases have been reported in the literature around the world and most of them come from low-income population groups where consanguinity is common,” researchers wrote.

Consanguinity is when people are from the same ancestors, but in this man’s case doctors noted he was from a non-consanguineous marriage, meaning his parents weren’t related.

His condition is known as H syndrome because many of its symptoms include things beginning with the letter “h” such as the hyperpigmentation and hypertrichosis.

Other conditions of H syndrome include heart abnormalities and hearing loss.

There is no known cure for it.

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