International Journal of Case Reports and Images - IJCRI - Case Reports, Case Series, Case in Images, Clinical Images

   
Case Report
 
A rare case of anhidrotic ectodermal dysplasia in a six-year-old boy
Bismah Gul1, U. Narayan Reddy2, Swathi Chacham3, S. Ali khurram4, Naila Mazher1, Taha Mustafa5, E. Apoorva5
1MD Paediatrics, Junior Resident, Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad 500 002, Andhra Pradesh, Telangana, India.
2MD paediatrics, DCH, DNB paediatrics, Head of The Department And Professor, Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad 500 002, Andhra Pradesh,Telangana, India.
3MD Paediatrics, DM Neonatology (from Post graduate institute of medical education and research, Chandigarh), Assistant Professor, Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad 500 002,Andhra Pradesh, Telangana, India.
4MD Pediatrics, Associate Professor, Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad 500 002, Andhra Pradesh, Telangana, India.
5DCH, Junior Resident, Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad 500 002, Andhra Pradesh,Telangana, India.

doi:10.5348/ijcri-201621-CR-10608

Address correspondence to:
Dr. Naila Mazher
MD Paediatrics, Junior resident, Deccan College of Medical Sciences, Princess Esra Hospital
Hyderabad 500 002, Andhra Pradesh, Telangana
India

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How to cite this article
Gul B, Reddy UN, Chacham S, Khurram SL, Mazher N, Mustafa T, Apoorva E. A rare case of anhidrotic ectodermal dysplasia in a six-year-old boy. Int J Case Rep Images 2016;7(2):127–131.


Abstract
Introduction: Ectodermal dysplasia is a rare, non-progressive, genetic disorder resulting from abnormal development of two or more tissues at a time which are derived from the embryonic ectoderm. It classically manifests with skin, eccrine gland, nail and hair changes, with an incidence of 1 in 1, 00,000 births. More than 170 different syndromes have been identified. X- linked recessive anhidrotic dysplasia (XLHED) being the most common type, which is expressed in males.
Case Report: A six-year-old boy, was bought to the pediatric outpatient department with the complaints of fever on and off since month months. The parents gave history of recurrent episode of hyperpyrexia, with heat intolerance, absent sweating and delayed dentition in the past. On examination the child had peculiar facies, characterized by malar hypoplasia, flattening of nasal bridge, everted lips, wrinkled periorbital skin, pegged shaped tooth, low set ears, scanty, hypopigmented hair on the head; with absent eyebrows and eye lashes. Even after thorough evaluation and investigation, no focus of infection was found, ectodermal dysplasia was then considered and a skin biopsy done, which showed absence of skin appendageal structures.
Conclusion: We report a rare case of anhidrotic ectodermal dysplasia in a 6-year-old boy, thus emphasizing the need for considering EDA as a differential diagnosis for neonates and infants with history of fever of unknown origin specially when associated with delayed dentition and hypotrichosis. An early diagnosis would have prevented unnecessary antibiotic misuse

Keywords: Children, Guillain-Barré syndrome, Herpes zoster, Immunocompetent


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Author Contributions
Bismah Gul – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
U. Narayan Reddy – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Swathi Chacham – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
S. Ali khurram – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Naila Mazher – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Taha Mustafa – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
E. Apoorva – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of submission
The corresponding author is the guarantor of submission.
Source of support
None
Conflict of interest
Authors declare no conflict of interest.
Copyright
© 2016 Bismah Gul et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.



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