



CASE REPORT Year : 2014 | Volume : 9 | Issue : 1 | Page : 66-69

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



Soaham Dilip Desai1, Rita Vora2, Sheela Bharani3

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





Date of Web Publication 25-Apr-2014

Correspondence Address:

Soaham Dilip Desai

Department of Neurology, Room 114, Super Specialty Clinic, Shree Krishna Hospital and Pramukhswami Medical College, Karamsad, Anand - 388 325, Gujarat

India

Source of Support: None, Conflict of Interest: None Check

DOI: 10.4103/1817-1745.131493



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 Garcý'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

How to cite this article:

Desai SD, Vora R, Bharani S. Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome. J Pediatr Neurosci 2014;9:66-9

How to cite this URL:

Desai SD, Vora R, Bharani S. Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome. J Pediatr Neurosci [serial online] 2014 [cited 2020 Sep 21];9:66-9. Available from: http://www.pediatricneurosciences.com/text.asp?2014/9/1/66/131493

Introduction

Case Report

Figure 1: Multiple hyperpigmented, hyperkeratotic verrucous plaques over the neck, back distributed in a blaschkoid pattern with acanthosis nigricans at nape of neck



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Figure 2: Skin biopsy suggestive of non-epidermolytic, non-organoid keratinocytic type of epidermal nevus with associated acanthosis nigricans



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Discussion

McCune-Albright syndrome

More Details

Table 1: Ways to classify epidermal nevus syndrome



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Table 2: Summary of diagnostic clinical clues of well-defi ned ENS



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Acknowledgments

References

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4. Happle R. The group of epidermal nevus syndromes Part II. Less well defined phenotypes. J Am Acad Dermatol 2010;63:25-32.

[ PUBMED ] 5. de Waal AC, van Rossum MM, Bovenschen HJ. Extensive segmental acanthosis nigricans form of epidermal nevus. Dermatol Online J 2010;16:7.

6. Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, et al. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 2006;116:2201-7.

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8. Dodge NN, Dobyns WB. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet 1995;56:147-50.



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