摘要: The common denominator of this group familial syndromes is abnormality tissue growth. Each involves dysplasia ectodermal and mesodermal tissues. Dermal hyperpigmentation (cafe-au-lait spots) may be present in each. Three the syndromes, tuberous sclerosis, neurofibromatosis, focal dermal hypoplasia, are without defined pathogenesis pathognomonic diagnostic features. Tuberous sclerosis neurofibromatosis both considered phakomas. Neurofibromatosis also share features with other heritable including multiple mucosal neuronal syndrome Watson’s syndrome. Moreover, each these three characterized by literally dozens associated defects.
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