PubMed · 7286987
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J Kleinebrecht, K H Degenhardt, A Grubisic, E Günther, J Svejcar. 1981. Sweat pore counts in ectodermal dysplasias.. https://doi.org/10.1007/bf00281701
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Three patients with cutis aplasia of the scalp presented to Arkansas Children's Hospital over a period of eighteen months. Two of the patients required operative intervention for closure of the defects and the third patient healed with dressing changes. Surgery required the combined efforts of both neurosurgery and plastic surgery.
Many genodermatoses have distinct oral features that may help identify or confirm a genetic diagnosis. Oral features of the disorders described here are summarized in Table 1. These conditions provide clear examples of rapid progress in the field of genetic technology relevant to patient care. Less than a decade ago, the exact genetic locus of most of these disorders was unknown. Today, for many of these disorders, the exact location of the disease-causing mutation is known and clinical genetic testing is available for patients. This information has impact not only for genetic counseling and anticipatory medical care, but also provides insight into the mechanisms of disease. How this rapid progress will impact care, and ultimately treatment of patients, remains to be seen.
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