This disease affects ectodermal structures: hair, teeth, skin, sweat glands.
Recently, the actor and top model Abdérrahim Maziane – seen in particular in the film “Merrick” by Benjamin Diouris – released a book “En Chantier” (Blackelephant editions) in which he tells his difference. The actor was born with a rare genetic disease, ectodermal dysplasia, which he testified to in a Konbini video. What is this disease and what does it cause?
What is the definition of ectodermal dysplasia and where does it come from?
The High Authority for Health introduces: “Ectodermal dysplasias form a heterogeneous group of rare orphan diseases or syndromes, of genetic origin, characterized by an abnormality in the development or homeostasis ofat least two of the following structures: teeth, nails, hair follicles and some glands. Anhidrotic ectodermal dysplasia (AED) is the most common form.
Ectodermal dysplasia can affect both girls and boys. Its worldwide incidence is estimated at 1 in 100,000 people. Four genes are involved in its occurrence: EDA1, EDAR, EDARADD and WNT10A. It affects ectodermal structures such as: sweat glands, hair, skin, teeth.
What are the symptoms of ectodermal dysplasia?
“DEH is characterized by the triad of manifestations including thinning hair (atrichosis/hypotrichosis), missing (anodontia/hypodontia) or abnormal (e.g. conical) teeth, and reduced or absent sweating due to the absence of sweat glands ( anhidrosis/hypohidrosis) leading to heat intolerance which can cause recurrent episodes of life-threatening hyperthermia”, develops Orpha.net.
People who live with this genetic condition usually have thin skin that is prone to eczema, dry eyes but also nasopharyngeal dryness. There is also facial dysmorphism: very thin or even sparse eyebrows and eyelashes, hyperpigmentation around the eyesthe lower jaw is often underdeveloped while the forehead is prominent.
How is it diagnosed?
To diagnose DEH, two elements often come into play: episodes of hyperthermia, and late tooth development. Hyperthermia is characteristic of patients with this genetic disease : “For the majority of patients, intolerance to heat is a warning sign. This intolerance manifests itself in the form of discomfort, malaise or feeling of discomfort, fatigue, or even possible loss of consciousness when the outside temperature exceeds 26°C”, specifies the HAS.
94% of patients would experience at least one episode of unexplained fever during the first year of life. It is the attack on the level of the sweat glands which explains that the person is not able to regulate his temperature correctly.
Certain examinations make it possible to confirm this attack, in particular via a cutaneous biopsy which can highlight the absence of sweat glands. Of course, a genetic test completes the diagnosis.
How do we treat it?
It is a genetic disease that cannot be cured. But the symptoms can be accompanied by a dermatologist, an ENT, a pulmonologist (for asthmatic symptoms), an ophthalmologist, a dentist, a psychologist, because this disease can have a significant impact on the quality of life of patients, such as explained Mélanie Gaydos in an interview with Brut in 2019.
“DEH with immunodeficiency requires immunotherapy and aggressive management of infections or transplantation of hematopoietic stem cells”, specifies Orpha.net. Afterwards, hyperthermia should be controlled with continuous monitoring of temperatures and regular hydration with cool drinks, or wetting clothes to cool off. Dental and orthodontic treatment can also be implemented.
“If the disease is not diagnosed early enough in childhood, hyperthermia can induce brain damage and can be fatal. Most patients have a normal life expectancy with early diagnosis and appropriate management“, ends Orpha.net.
Sources: Orpha.net, Brut, Konbini, HAS