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- Title
Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis.
- Authors
Yuki Mizutani; Miki Nagai; Hitoshi Iwata; Kunihiro Matsunami; Mariko Seishima
- Abstract
Epidermal nevus syndrome (ENS) is a congenital disorder characterized by widespread linear epidermal lesions consisting of epidermal nevus and extracutaneous involvements, especially of the central nervous system and skeletal system. Garcia-Hafner-Happle syndrome, also known as fibroblast growth factor receptor 3 (FGFR3)-ENS, is characterized by a systematized keratinocytic EN of soft and velvety type with neurological abnormalities such as seizures, intellectual impairment, and cortical atrophy. We present a case of a 9-year-old Japanese boy afflicted with Garcia-Hafner-Happle syndrome associated with dwarfism and atopic dermatitis. We show the results of physical examination, DNA analysis, and imaging studies and discuss the mutation underlying the child's disorder.
- Subjects
EPIDERMAL nevus syndromes; ATOPIC dermatitis; DWARFISM; FIBROBLAST growth factor receptors; CHILDREN'S health
- Publication
Children, 2021, Vol 8, Issue 8, p1
- ISSN
2227-9067
- Publication type
Article
- DOI
10.3390/children8080697