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J Pediatr Neurosci. 2014 Jan;9(1):66-9. doi: 10.4103/1817-1745.131493.

Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome.

Author information

1
Department of Neurology, Shree Krishna Hospital and Pramukhswami Medical College, Karamsad, Gujarat, India.
2
Department of Dermatology, Shree Krishna Hospital and Pramukhswami Medical College, Karamsad, Gujarat, India.
3
Department of Pediatrics, Shree Krishna Hospital and Pramukhswami Medical College, Karamsad, Gujarat, India.

Abstract

Garcia-Hafner-Happle syndrome, also known as Fibroblast growth factor receptor 3 epidermal nevus syndrome, is a new neurocutaneous phenotype, which has been identified in 2008 by Garc─▒'a-Vargas et al. The disorder is caused by a mosaic R248C mutation of the FGFR3 gene, which is characterized by a keratinocytic epidermal nevus, acanthosis nigricans, and neurological abnormalities like seizures, intellectual impairment, cortical atrophy, and underdevelopment of corpus callosum. The epidermal nevus syndromes represent a group of distinct disorders in which an epidermal nevus is associated with abnormalities in other organ systems like central nervous system, cardiovascular system, genitourinary system, eyes, and bone. Recently, nine well-defined different epidermal nevus syndromes (ENSs) have been identified on clinical, histopathologic, and molecular basis. We present here the details of a patient with the clinical features and skin biopsy findings suggestive of Garcia-Hafner-Happle syndrome.

KEYWORDS:

Acanthosis nigricans; epidermal nevus; epilepsy

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