Affiliation:
1. Department of Dermatology Hospital Alemán Buenos Aires Argentina
2. Department of Pediatric Dermatology Hospital Ramos Mejía Buenos Aires Argentina
3. Institute of Human Genetics University Hospital Magdeburg Magdeburg Germany
4. Department of Genetics Hospital Alemán Buenos Aires Argentina
Abstract
AbstractHapple‐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 lacked the pathognomonic basaloid follicular hamartomas, with genetic confirmation and detailed clinical characterization and describe new cutaneous features of this infrequent syndrome.
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Cited by
1 articles.
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