Anhidrotic ectodermal dysplasia in infancy – Case of misconduct of hyperthermia

Milind R Kulkarni ,B C Yelamali,Vinay Kumar,Ashok V Badakali

doi:10.18231/2581-4702.2018.0028

Abstract

Ectodermal dysplasias are a group of hereditary disorders with improper development of embryonal ectodermal layer. The diagnosis of these disorders is challenging during infancy and it must be considered while investigating infants or neonates with fever without focus and dehydration. In the infants, clinical signs of this condition are subtle and non-specific. The classical signs of the disease become more visible after a few months of life. Paediatricians should have high index of suspicion of anhidrotic ectodermal dysplasia in infants or neonates presenting with fever without focus and dehydration especially in summer season. We report this rare clinical entity and supplicate to consider the diagnosis of anhidrotic ectodermal dysplasia when investigating pyrexia of unknown origin (PUO) or hyperthermia in infants during summer especially in areas of semi arid climate and dry weather. Keywords: External dysplasia, Anhidrotic, Pyrexia of unknown origin.

Highlights

Ectodermal dysplasias are assorted cluster of hereditary diseases characterized by various abnormalities in tissues and organs of ectodermal origin.[1,2]
The first description of this disorder involving skin, hair, and teeth was given by Thurman in the year 1848.3-5 Anhidrotic ectodermal dysplasia is an X-linked recessive disorder
This condition constitutes the triad of total absence of sweat glands, hypotrichosis, and hypodontia.[3]

Summary

Introduction

Ectodermal dysplasias are assorted cluster of hereditary diseases characterized by various abnormalities in tissues and organs of ectodermal origin.[1,2] The two major types of this disorder are anhidrotic and hypohidrotic forms.[1]. This condition constitutes the triad of total absence of sweat glands, hypotrichosis, and hypodontia.[3] This disorder predominantly affects males which constitute 90% of the cases. Histo-pathological specimen confirmed absence of sweat glands with hypoplasia of follicular structures (Fig. 1).

Results

Conclusion