Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis.

Yuki Mizutani,Kunihiro Matsunami,Mariko Seishima,Miki Nagai,Hitoshi Iwata

doi:10.3390/children8080697

Yuki Mizutani, Kunihiro Matsunami + Show 3 more

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https://doi.org/10.3390/children8080697

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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.

Highlights

Epidermal nevus syndrome (ENS) represents a rare neurocutaneous disorder in which epidermal nevi are associated with abnormalities in extracutaneous organ systems [1]
fibroblast growth factor receptor 3 (FGFR3)-ENS is characterized by the systemic appearance of soft, velvety, keratinocytic epidermal nevi, and neurological abnormalities such as seizures, intellectual impairment, and cortical atrophy
R248C FGFR3 mutations have been reported in patients with epidermal nevi and its extracutaneous manifestations, this is the first reported case of ENS-associated dwarfism and atopic dermatitis (AD) as far as we know [6,7]

Summary

Introduction

ENS represents a rare neurocutaneous disorder in which epidermal nevi are associated with abnormalities in extracutaneous organ systems (e.g., the central nervous system, cardiovascular system, genitourinary system, eyes, and bone) [1]. 1. Introduction ENS represents a rare neurocutaneous disorder in which epidermal nevi are associated with abnormalities in extracutaneous organ systems (e.g., the central nervous system, cardiovascular system, genitourinary system, eyes, and bone) [1]. Three phenotypes with a known molecular etiology include congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, type 2 segmental Cowden disease, and FGFR3 epidermal nevus syndrome (FGFR3-ENS). FGFR3-ENS is characterized by the systemic appearance of soft, velvety, keratinocytic epidermal nevi, and neurological abnormalities such as seizures, intellectual impairment, and cortical atrophy.

Results

Conclusion