Article
Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases.
Pediatric dermatology - 1 Jan 2000
Cano Ramiro, Abad María Eugenia, Schanze Denny, Zenker Martin, Serafin Eva, Larralde Margarita
Abstract excerpt
Happle-Tinschert syndrome is a rare genodermatosis caused by a postzygotic mutation in SMO gene. The most recognized clinical findings include segmentally arranged basaloid follicular hamartomas, nevoid hypertrichosis, linear atrophoderma, and hypopigmentation or hyperpigmentation following Blaschko lines associated with osseous, dental, and cerebral alterations. We report three additional cases, two of which...
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