Doctors Successfully Treat Rare Genetic Disorder in Utero

The Hypohidrotic Ectodermal Dysplasia, is also known as “Anhidrotic Ectodermal Dysplasia” and “Christ-Siemens-Touraine Syndrome”. It is one of about 150 types of ectodermal dysplasia in Humans which leaves patients unable to produce sweat, which can be life-threatening.

It is a genetic disease and before birth, this disorder shows abnormal development of structures including skin, hair, teeth, nails and sweat glands and most people with this disorder have a reduced ability to sweat (hypohidrosis) because they have very fewer sweat gland as compared to normal which do not function properly.

The disease, X-linked hypohidrotic ectodermal dysplasia (XLHED), influences around 1 in 17,000 individuals around the world. Patients with XLHED carry a mutant gene that anticipates the production of a certain protein, called ectodysplasin A. Missing this protein causes abnormal development and the decreased capacity to sweat (called hypohidrosis) can lead to unsafe overheating, causing possibly life-threatening health issues.

After the successful test in mice, specialists treated a pair of twins and a third infant diagnosticate with XLHED with a recombinant protein whereas the babies were still in utero. They treated the twins with the protein twice, at weeks 26 and 31 of pregnancy, and treated the third child at week 26 only. In spite of the fact that the treatment may have driven to the premature birth of the twins at 33 weeks, it too appears to have been effective in all three cases. After 22 months of postnatal follow-up, the three newborn children were able to deliver sweat normally and had not developed XLHED-related indications.

Affected people show sparse scalp and body hair (hypotrichosis). The hair is frequently light-colored, delicate, and slow-growing. These symptoms additionally include absent teeth (hypodontia) or teeth that are malformed. The teeth that are present are habitually little and pointed.

While the treatment isn’t completely curative, the foremost life-threatening aspect of the disease was effectively addressed. Long-term follow-ups are required to ensure that the positive impacts last all through the patients’ lifetimes in which there are no long-term side effects for the mothers.