Anhidrotic ectodermal dysplasia: a case report in a Nigerian child and literature review

Abstract

This report of Hereditary anhidrotic ectodermal dysplasia (HAED), a genetic disorder characterized by abnormalities of structures of ectodermal origin, was informed by its rarity, and its import for survival in a tropical environment. The five-year old male was first seen on account of inability to cut the front teeth, and a persistent offensive nasal discharge. He had heat intolerance and inability to perspire from early infancy. Pedigree evaluation revealed that both parents are Nigerians and unrelated, but the maternal front dentition was visibly defective. A 19-year old female sibling needed dentures at 10 years of age, while the father was one of two survivors out of 12 children, eight of whom were males. Findings included hypotrichosis; "saddle-nose" deformity and an offensive nasal discharge; the skin was thin, warm and dry; he had no incisors and canines, but had a single erupted premolar on either side and radiographic evidence of unerupted premolars was found. Genetic counseling and parental anticipatory guidance were offered, as was antimicrobial treatment for the co-morbid atrophic rhinitis. Dentures were deferred on the dentist's advice. This case report of HAED in a Nigerian was aimed at raising the local index of clinical suspicion by highlighting the reality of rarities, even with inadequate diagnostic support. The diagnostic parameters, literature review and the management strategies are discussed.

Ectodermal Dysplasia with Bilateral Punctal Agenesis in a Nigerian Child: A Case Report

“…[8][9][10][11][12] There are few reports of the anhidrotic form among Nigerians. [24][25][26] However, to the authors' knowledge, this is the first case of the hidrotic form with ocular manifestations in Nigeria. ED is a disorder well documented in the dental and dermatological literature but in very few ophthalmological literature.…”

Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia

“…Ectodermal dysplasia is commonly transmitted as X-linked recessive pattern with autosomal dominant and recessive being rare. [ 2 7 ] The defective genes that are associated with ED are ED-1, muscle segment homeobox homology-1, ectodysplasia-1 (EDAR), and paired box gene (PAX 9). [ 3 7 ] Kere et al [ 8 ] in their study, observed a new genetic locus of ED, the protein product is 135 residue transmembrane protein and is predicted to belong to noval class with a role in epithelial and mesenchymal signaling.…”

“…The X-linked recessive is the most common pattern of inheritance while autosomal dominant and recessive are rare. [ 2 3 ] In few cases, family history is not accountable, constituting de novo mutation. [ 4 5 ] There are 117 possible phenotypic types of ED have been reported.…”