1.
Pediatr Dermatol
; 40(4): 691-694, 2023.
Article
in English
| MEDLINE
| ID: mdl-36707059
ABSTRACT
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 lacked the pathognomonic basaloid follicular hamartomas, with genetic confirmation and detailed clinical characterization and describe new cutaneous features of this infrequent syndrome.
Subject(s)
Chondrodysplasia Punctata , Hamartoma , Hyperpigmentation , Skin Abnormalities , Humans , Animals , Hedgehogs , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Phenotype
2.
Int J Dermatol
; 60(7): 893-895, 2021 Jul.
Article
in English
| MEDLINE
| ID: mdl-33682121