An unusual case of ectodermal dysplasia: combating senile features at an early age

Abstract

Ectodermal dysplasia (ED) refers to a group of inherited diseases that have developmental defects in at least two major structures derived from the ectoderm, that is, hair, teeth, nails and sweat glands. Although more than 192 distinct disorders have been described, the most common is X-linked recessive hypohidrotic ED (Christ-Siemens-Touraine syndrome). Since such patients usually presents with missing teeth, dentists are usually the first person to diagnose such cases. Diagnosis of such cases is important because absence of sweat glands can lead to hyperthermia which can be life-threatening if proper care is not taken. Through this manuscript, we report a case of anhidrotic ED affecting deciduous and permanent dentition, which is rare.

The role of the dentist in the diagnosis of ectodermal dysplasia

“…Dental alterations occur early and should be detected in childhood 4 . Multiple missing teeth and their conical and pointed shape are striking features 6 , together with eruption delay 5 . Hypodontia may lead to an incorrect development of the alveolar process, leading to a decrease in the vertical dimension, alveolar ridge atrophy, labial protuberance 4 and feeding impairment 18 .…”

“…Individuals presenting this syndrome have a characteristic face trait, very similar to each other 7 , although some show only slight phenotypic abnormalities 9 . Among the facial features the following can be highlighted: hyperpigmentation at periorbital and perioral areas, fine and linear wrinkles 11 , hypoplasia at the middle third of the face resulting in protruding lips, poorly formed low-set ears, depressed nasal bridge causing a saddle-shaped nose look 6 . Other features can be observed such as: the loss of the face vertical dimension associated with fissures around the mouth giving the child a senile appearance at an early age 1 , prominent frontal bossing, small face 4 , hypotonicity of the perioral musculature 2 and short stature 19 .…”

“…In females, the mammary glands are usually hypoplastic or aplastic 11 . and knowledge in the diagnosis process is of utmost importance since ectodermal dysplasia presents a variable degree of early clinical manifestations 6 .Once the diagnosis process has been established, the affected patients can be provided with a multidisciplinary rehabilitation program where self-esteem can be restored enabling. The ectodermal dysplasia syndrome comprises a complex group of disorders [7][8] with more than 200 different forms identified 9 .…”

“…EDs are caused by specific genes mutations 12 or specific chromosome coupling 13 . In most cases, the syndrome has a recessive character linked to the X chromosome 6 , and may also be transmitted as an autosomal dominant chromosome 4 or autosomal recessive chromosome [14][15] . Other causes can be pointed out such as: exposure to ionizing radiation, endocrine disorders and neoplasms 2 .…”

“…The hypohidrosis is the most common characteristic of this type of dysplasia and what differentiates it from the hydrophilic form is the perspiration and the sebaceous and mucous glands presenting normal functions 11. Due to the reduced number of sweat glands present in the hypohydrotic form, the affected patient presents impaired perspiration leading to hyperthermia, with febrile seizures during childhood, even leading to neurological impairment 4 with mental retardation which can be observed in 30 to 50% of the cases 16 . The number of mucous, sebaceous and salivary glands may also be altered, resulting in thick nasal secretions which can trigger respiratory disease development 6 and also thin, smooth, transparent and dry skin, often presenting an association with atopic dermatitis 16 or hyperkeratosis in the palm of the hands and feet soles 11 dry oral mucosa, xerostomia 6 , as well.…”