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

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.Key words: Anhidrotic ectodermal dysplasia; hypotrichosis; oligodontia;Nigeri

Sonographic Assessment of Fallopian Tube Patency in the Investigation of Female Infertility in Ilorin, Nigeria

This study was conducted to bring into focus the value of pelvic sonograms in assessing tubal patency in order to overcome the radiation hazard associated with hysterosalpingogram (HSG), reduce cost of examination and encourage it as first-line office-based procedure for management of female infertility. Fifty consecutive female patients primarily designated for HSG underwent pre- and post-HSG pelvic sonograms and the results were documented. Agreement between HSG and SHSG was established in 89 of 100 (89%) fallopian tubes. The sensitivity of sonohysterosalpingography (SHSG) in diagnosing tubal patency was 85.5% and the specificity 96.8%. Analysis of the raw data gave positive predictive value of 98.3% and negative predictive value of 75%. It is accepted that there is no statistically significant difference (p = 0.237) between the results of the two methods (HSG and SHSG). SHSG is found to be a reliable, relatively inexpensive diagnostic and therapeutic (guided hydrotubation) procedure in the management of female infertility. (Afr J Reprod Health 2001; 5[1]: 100-105) RÉSUMÉ Evaluation sonographique de la perméabilité de trompe utérine dans l'étude de la stérilité féminine à Ilorin, Nigéria. Cette étude avait pour but de mettre au point la valeur des sonogrammes dans l'évaluation de la perméabilité tubaire afin de surmonter le hasard radique associé à l'hystérosalpinogramme (HSG), de réduire le coût d'examen et de l'encourager en tant qu'un procédé majeur basé au bureau, pour le traitement de la stérilité féminine. Cinquante patientes consécutives qui sont essentiellement désignées pour le HSG ont subi les sonogrammes pelviens avant-et post-HSG et les résultats ont été documentés. La correspondence entre le HSG et la SHSG a été établie dans 89 sur 100 trompes utérines (89%). La sensibilité de la sonohystérosalpinographie (SHSG) dans la diagnositique de la perméabilité tubaire était de 85,5% alors que la spécificité était de 96,8%. Une analyse des premières approximations des données a donné une valeur prévisionnelle positive de 98,3% et une valeur prédictive négative de 75%. On admet qu'il n'y a pas de différence statistiquement significative (p = 0,237) entre les résultats des deux méthodes (HSG et SHSG). Le résultat montre que la SHGH est un procédé diagnostique et thérapeutique (hydrotubaire guidé) fiable, relativement bon marché dans le traitément de la stérilité feminine. (Rev Afr Santé Reprod 2001; 5[1]: 100-105