PubMed · 3323518
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A Clarke. 1987. Hypohidrotic ectodermal dysplasia.. https://doi.org/10.1136/jmg.24.11.659
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We describe an infant with aplasia cutis congenita of the scalp complicated by sagittal sinus hemorrhage. The defect was successfully managed by primary closure with scalp flaps. The literature on aplasia cutis congenita is reviewed, including etiology, genetic transmission, associated anomalies, and options for management. The potentially fatal outcome highlights the importance of early surgical coverage of the exposed superior sagittal sinus to avoid life-threatening hemorrhage and other complications.
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Oligodontia, sparse hair and deficiency of eccrine sweat glands are the features characteristic for the phenotype of the patients with anhidrotic ectodermal dysplasia (EDA). This syndrome is caused by mutations in the EDA or DL (downless) genes, encoding members of the TNF ligand and TNF receptor families, involved in the communication between the cells during embryonic life. We investigated both the coding and noncoding regions of the EDA and the DL genes in the patients exhibiting clinical symptoms of ectodermal dysplasia. Sequence analysis of the amplified fragments of the EDA gene revealed polymorphisms in introns three, four and five. The polymorphism in intron four was found in about 60% of the patients and was no more frequent than in the normal individuals. The two other polymorphisms were rare. Polymorphisms were also observed in exons 9 and 12 of the DL gene, but they did not alter the sequence of the protein product of the gene. Our results indicate that in order to accelerate screening for the mutations of the EDA gene and reduce the costs, the amplified fragments should not contain intronic sequences. However, in the case of the DL gene, where polymorphic sites are located in exons, restriction analysis with the use of appropriate enzyme should be conducted, but usually sequencing analysis could not be avoided.