Anhydrotic ectodermal dysplasia at tertiary care centre in western region of India

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Original Article

Author Details : Monica Rime*, Jay Dhirajlal Modha, Neela V Bhuptani, Bharti K Patel

Volume : 10, Issue : 3, Year : 2024

Article Page : 318-322

https://doi.org/10.18231/j.ijced.2024.056

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Abstract

Background: Anhydrotic Ectodermal Dysplasia, a rare genodermatosis, results in developmental anomalies affecting structures derived from the ectoderm. This condition is characterized by a clinical triad encompassing hypodontia, hypotrichosis, and anhidrosis, alongside additional symptoms Anhydrotic.
Materials and Methods: We conducted a retrospective review of the medical records of patients diagnosed with Anhydrotic Ectodermal Dysplasia at the Department of Dermatology, PDU Govt Medical College and Hospital Rajkot over the duration of 14 years from june 2008 to june 2022 Clinical presentations, family history details, and the initial symptoms prompting medical attention were carefully documented.
Results: In this case series,total 6 patients 5 males and 1 female of Anhydrotic Ectodermal dysplasia were identified. Clinical triad was present in all the patients. Family history was positive in 5 patient where 2 males were from the same family. Three patients were born out of consanguineous marriage.Initial presentations most commonly noted were intolerance to heat, recurrent fever, dry skin and abnormal dentition.
Conclusion: Anhydrotic Ectodermal dysplasia is a rare genodermatoses which is invariably characterized by its clinical triad. Early diagnosis is important in order to improve the quality of life.
 

Keywords: Ectodermal dysplasia, Anhydrotic, Autosomal recessive, Child, Skin diseases, Genetic, Signs and Symptoms

How to cite : Rime M, Modha J D, Bhuptani N V, Patel B K, Anhydrotic ectodermal dysplasia at tertiary care centre in western region of India. IP Indian J Clin Exp Dermatol 2024;10(3):318-322

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