Work

A classical variant of ectodermal dysplasia: a case report

Year: 2025

Type: article

Abstract: Ectodermal dysplasias are characterized by abnormalities in two or more ectodermal structures, including hair, sweat glands, nails, etc. and are a rare group of congenital disorders. It is characterized by the triad of three conditions, namely hypohidrosis, hypotrichosis, and hypodontia. The phenotypic expression of ectodermal dysplasia may be variable, often raising problems in clinical assessments and care, particularly in the paediatric age group, where early manifestations can be subtle or nonspecific. While most cases reveal a clear inheritance pattern, sporadic presentations in the absence of similar complaints in the family are uncommon and raise significant diagnostic difficulties. Early identification and multidisciplinary treatment are imperative to mitigate complications such as recurrent infections, thermoregulatory dysfunction, and psychosocial impact. In this report, we highlight the clinical presentation, diagnostic evaluation, and management considerations in a 10-year-old male child diagnosed with a sporadic case of ectodermal dysplasia.

Source: Pan African Medical Journal

DOI: 10.11604/pamj.2025.52.90.48271

Authors: Switi Jawade, Pratibha Wankhede, Ranjana Sharma, Pratiksha Munjewar, Vidhya More

Institution: Datta Meghe Institute of Higher Education and Research

Language: English

Topic: dental development and anomalies

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $180