Hypohidrotic ectodermal dysplasia

Piotr Jarliński; Jolanta Węgłowska; Agnieszka Odziomek; Ewelina A. Rebizak; Jakub Marczuk

doi:10.5114/dr.2020.103892

eISSN: 2084-9893
ISSN: 0033-2526

Dermatology Review/Przegląd Dermatologiczny

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6/2020
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abstract:

Case report

Hypohidrotic ectodermal dysplasia

Piotr Jarliński

¹

,

Jolanta Węgłowska

¹

,

Agnieszka Odziomek

¹

,

Ewelina A. Rebizak

¹

,

Jakub Marczuk

¹

Unit Dermatologic with Subunit Dermatology, Paediatric, Provincial Hospital Technical, Wroclaw, Poland

Dermatol Rev/Przegl Dermatol 2020, 107, 557-561

DOI: https://doi.org/10.5114/dr.2020.103892

Online publish date: 2021/02/27

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Introduction
Ectodermal dysplasia is a group of genetically determined disorders manifesting in the developmental malfunction of ectodermal structures: teeth, hair, nails and skin glands. Objective. We present the case of a 22-month-old boy with diagnosed hypohydrotic ectodermal dysplasia and the literature review.

Case report
A 22-month-old boy was admitted to the Dermatology Department because of severe itching and erythematous skin patches in flexural areas. During the physical examination, in addition to skin lesions, hypodontia, hypotrichosis and hypohidrosis were found. The diagnosis of hypohidrotic ectodermal dysplasia was established. As the criteria of Hanifin and Rajka were met, the boy was also diagnosed with atopic dermatitis.

Conclusions
Although hypohidrotic ectodermal dysplasia is a condition with good prognosis, a wide range of associated facial abnormalities, dental problems and other concomitant defects make patients’ quality of life markedly impaired. Patients and their families need dental implant surgery, treatment of co-morbidities, psychological counselling and support.

keywords:

Hypohidrotic ectodermal dysplasia

Piotr Jarliński 1 , Jolanta Węgłowska 1 , Agnieszka Odziomek 1 , Ewelina A. Rebizak 1 , Jakub Marczuk 1

hypohidrotic ectodermal dysplasia, anhidrotic ectodermal dysplasia, x-linked hypohidrotic ectodermal dysplasia, Christ-Siemens-Touraine syndrome

Piotr Jarliński

¹

,

Jolanta Węgłowska

¹

,

Agnieszka Odziomek

¹

,

Ewelina A. Rebizak

¹

,

Jakub Marczuk

¹