Orofacial Features of Hypohidrotic Ectodermal Dysplasia

Abstract

Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene. The aim of this case report was to describe a family with XLHED with emphasis on differences in orofacial features between members. Family members were systematically evaluated to characterize the pattern of inheritance and clinical features. Dental examination included evaluation of agenesis and abnormal teeth structure. The pedigree of the last seven generations of the family was constructed. Clinical examination and medical history revealed five males affected by HED and nine female as heterozygous carriers. The males exhibited the classic phenotype of XLHED, with dental abnormalities, hypohydrosis, and craniofacial dysmorphologies. The heterozygous carriers of the X-linked gene defect principally exhibited dental agenesis of the lateral maxillary incisors. Careful clinical examination, including dental evaluation, is an important way to detect heterozygous carriers of X-linked HED. Heterozygous parents of patients with HED may also show some features of the disorder. The identification of female carriers results in genetic counseling being offered to affected families, as well as providing adequate treatment as necessary and long-term follow-up of these patients.

Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review

“…At the time of first prosthetic rehabilitation, children of the early age group were 4 (3/5) years old. The case series of de Aquino et al described prosthetic rehabilitation of only one individual.…”

Oral rehabilitation with implant-supported overdenture in a child with hypohidrotic ectodermal dysplasia

“…Even rarer is a mutation in EDARADD, and recently WNT10A has been reported to be causative of HED 3 . The clinical features include sparse, fine hair, missing or conical teeth, decreased sweat and mucous glands, hypoplastic skin and heat intolerance with exercise or increased ambient temperature 4 . Complete or partial anodontia and malformation of teeth are the most frequent dental findings.…”

Clinical Variability in Familial X-Linked Hypohidrotic Ectodermal Dysplasia with 2q12Mutation: A Rare Case Report of Female Siblings Agony

“…The typical faces of HED are characterized by frontal bossing, malar/midfacial hyperplasia, sparse, hypo pigmented hair, a saddle nose, thick everted lips, prominent supraorbital ridges, hyperkeratosis of the palms of the hands and soles of the feet; abnormal pigmentation, wrinkles around the eyes; which were seen in both the siblings [6,7].…”