PubMed · 7461888
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N Freire-Maia, M Pinheiro. 1980. So-called "anhidrotic ectodermal dysplasia".. https://doi.org/10.1111/j.1365-4362.1980.tb05898.x
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Two siblings with extensive aplasia cutis congenita of the extremities are described. These lesions healed spontaneously and in the older sibling at four years follow-up there was minimal scar tissue at the affected sites.
AIM: The present study was to examine the radiographic and histologic correlation of the respective ultrasonographic findings. METHODS: Histologic examinations were performed in 12 fetuses who had died in utero between 16 and 34 weeks of gestation. The fetuses had been examined by intrauterine sonography for tooth germs and had been subjected to additional radiographic examinations post abortum or partum. During autopsy, the tooth germs were again examined sonographically and radiographically, and non-decalcified histological sections were obtained by means of the sawing and grinding technique. RESULTS: The results obtained by histologically examining the 12 fetal jaws in the ultrasonic plane corresponded in all cases to those examined by sonography and radiology. CONCLUSION: Sonographic proof of tooth germs might gain increasing importance in future because agenesia of tooth germs is one of the principal signs of a variety of hereditary syndromes, particularly those of ectodermal origin.
Odonto-onycho-dermal dysplasia is an ectodermal dysplasia (ED) described once previously in two families who exhibited atrophic malar patches, sparse hair, conical teeth, dystrophic nails and hyperkeratosis of the palms and soles. We describe a boy who developed a blistering malar rash soon after birth. When examined at 11 months, and then at 27 months of age, he had persistent atrophic malar plaques that reddened with heat. He also showed nail dystrophy, sparse hair, lingual concavity of the incisors, a bifid maxillary incisor, a five-cusped molar, and hyperhidrosis of the palms and soles. In addition he had chronic tearing, photophobia, blepharitis, and a mild keratitis. After reviewing EDs with atrophic or scar-like skin changes, we believe this child most resembles the patients with odonto-onycho-dermal dysplasia, although his eye findings are unique.