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Journal of Integrative Pediatric Healthcare: Open Access

JIPH

Aabstract

Case Report

Congenital Anhidrotic Ectodermal Dysplasia: A Rare Neonatal Presentation

Geetanjali Srivastava, Harshal Khade, Uma Raju, Shashank Panwar

Correspondence Address :

Uma Raju
Consultant Neonatologist
Nice Hospital
Hyderabad, Telangana
India
Tel: 91-7093150968
Email: majgenumaraju@gmail.com

Received on: August 05, 2017, Accepted on: August 18, 2017, Published on: August 25, 2017

Citation: Uma Raju (2017). Congenital Anhidrotic Ectodermal Dysplasia: A Rare Neonatal Presentation

Copyright: 2017 Uma Raju. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

  • Abstract

Abstract
Anhidrotic Ectodermal Dysplasia is a rare genetic disorder of structures derived from embryonic ectoderm rimarily affecting skin, sweat glands and dentition. Clinical features include hyperthermia, dry scaly skin, scanty hypopigmented hairs, hypohidrosis and adontia which usually manifest beyond infancy. It carries a male preponderance. Features are rarely evident in neonatal period and occur more commonly in older children.
Diagnosis is based on clinical presentation supported by demonstration of reduced sweat glands by histopathology studies of skin biopsy and the absence/mutation of ectodysplacin gene on genetic studies. There is no definitive treatment but conservative measures viz prevention of hyperthermia, psychological support, artificial dentures enable an improved quality of life. We report a rare case of anhidrotic ectodermal dysplasia who presented on 5th day of life with hyperthermia and seizures. The baby exhibited several dysmorphic features viz absent eyebrows, hypopigmented hair, dry skin, premature aged appearance and periorbital hyperpigmentation. Skin biopsy obtained from right hypothenar eminence revealed an absence of sweat glands and orthokeratosis of epidermis. There was no haematological evidence of infection and EEG showed diffuse bilateral hemispherical slowing. His maternal uncle aged 8 years had similar dysmorphic features, adontia and frequent episodes of hyperthermia. Temperature control, management of seizures, skin emollients and supportive care were provided with gratifying results. Ectodermal dysplasia should be considered in a newborn presenting with unexplained hyperpyrexia and seizures. Purpose: An unusual presentation i.e. severe hyperthermia and seizures in the absence of infection and pathognomic dysmorphic features which manifested in the early neonatal period - an exceedingly rare occurrence. This case demonstrates the need to have a high index of suspicion when babies present with hyperthermia in the early neonatal period without other evidence of sepsis.

Keywords: Ectodermal dysplasia, Adontia, Anhidrosis, Ectodysplacin

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