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Ann Med Surg (Lond)
Ann Med Surg (Lond)
MS9
Annals of Medicine and Surgery
2049-0801
Lippincott Williams & Wilkins Hagerstown, MD

10.1097/MS9.0000000000000240
00033
3
Case Reports
Hypohidrotic ectodermal dysplasia: a case report
Albeik Muhammad T. M. N. MD aalbeiktalaat@gmail.com

http://orcid.org/0000-0002-8258-2977
Abdullah Lava MD blava7abdullah@gmail.com

Almatroud Muhammad M. MD drmuhammadalmatroud@gmail.com
a
a Department of Dermatology and Venereology
b Department of Obstetrics and Gynecology, Police Hospital, Damascus, Syria
* Corresponding author. Address: Al-Mazzah, Damascus, Syria. Tel: +963 997 769 874. E-mail address: lava7abdullah@gmail.com (L. Abdullah).
3 2023
17 2 2023
85 3 519522
8 11 2022
24 12 2022
Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.
2023
https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0/

Introduction and importance:

Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000–10,000 newborns. This disorder has a wide range of clinical manifestations; it affects organs originating from the embryonic ectoderm.

Case presentation:

We present a case of a 2-year-old boy diagnosed with HED, the boy was suffering from absence of sweating since birth, dry skin, recurrent episodes of hyperpyrexia, sparse and light-colored hair on the scalp, absent eyebrows, and delayed eruption of abnormally shaped teeth.

Clinical discussion:

The are no diagnostic criteria guidelines for HED, we diagnosed the disorder by the clinical manifestations and the family history. The management of patients with HED is palliative.

Conclusion:

This disorder needs multidisciplinary contribution to improve the general health of those patients, quality of life, and decrease morbidity and mortality.

Keywords:

hyperpyrexia
hypodontia
hypotrichosis
sparse hair
X-linked
OPEN-ACCESSTRUE
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pmcHighlights

A 2-year-old boy was diagnosed with hypohidrotic ectodermal dysplasia.

Clinical manifestations: hypodontia, hypotrichosis, and hypohidrosis.

Introduction

Ectodermal dysplasia (ED) is a group of heterogeneous genetic congenital disorders characterized by the absence or dysgenesis of at least two structures originating from the ectoderm: hair, nails, teeth, and the salivary glands1,2.

ED disorder group may be associated with other developmental events in a wide group of body organs derived from the ectoderm: thyroid gland, adrenal medulla, anterior pituitary gland, thymus, mammary glands, central nervous system, cornea, conjunctiva, and the meibomian glands3,4.

There are more than 200 types of ED described in the literature5–7.

Hypohidrotic ectodermal dysplasia (HED) is the most common type of ED diseases. It is fault in the development process of hair, teeth, and exocrine glands.

It affects at least 1 in 5000–10,000 newborns, the prevalence of HED is estimated to be 1–9/100,0008–10.

The clinical manifestations of HED disorder are:hypodontia or anodontia (the lack of several or all teeth in the oral cavity),

hypotrichosis (weak hair growth of the scalp),

and hypohidrosis (partial or total eccrine sweat glands insufficiency)11.

The newborns with HED suffer from the increase in central temperature, and this thermoregulation cause febrile seizures particularly in summer season and hot geographical regions and may be life-threatening12.

Dermatological findings include generalized hypotrichosis, mosaic patchy distribution of body hair; in the pubis and axilla, sparse hair, missing eyebrows, and eyelashes. Skin properties: thin, pale, dry, and hypopigmented, unlike the skin around the eyes and mouth, which is wrinkled and hyperpigmented.

Eyes dryness, airways, and mucosal membranes dryness may be noticed due to the abnormal development of exocrine glands7.

The oral manifestations include partial or complete anodontia, abnormally shaped teeth, enamel hypoplasia, reduced asymmetric alveolar ridge height, maxillary retrusion, and high palatal arch13.

HED is an inherited genetic disorder that may be X-linked, autosomal dominant, and autosomal recessive.

The most prevalent form of HED is inherited in an X-linked recessive pattern.

HED may result from defects in any of the three interacting proteins: ectodysplasin, EDAR, or EDARADD 14.

Mutations in the gene coding for ectodysplasin, EDA situated on chromosome Xq12-q13.114,15.

Autosomal dominant and autosomal recessive variants of HED were found to be caused by different mutations in the EDAR gene on chromosome 2q11-q1314,16.

Autosomal recessive HED was also found to result from a mutation in the EDARADD gene on chromosome 1q42.2-q4314,17.

This case report has been reported in accordance with the Surgical CAse REport (SCARE) 2020 criteria18.

Presentation of the case

A 2-year-old boy was brought to our clinic by his consanguineous parents with a chief complaint of the absence of sweating since birth, dry skin, recurrent episodes of hyperpyrexia, and delayed eruption of abnormally shaped teeth. The parents revealed that the child had intermittent episodes of fever in the past, associated with physical activity. These episodes used to occur more frequently in the hot climate.

The child has one 4-year-old brother with the same complaint and two healthy sisters.

The physical examination: patient’s vital signs and systemic examination were normal.

The hairs on the scalp were sparse and light-colored, and fragile hypopigmented, and the eyebrows were absent (Fig. 1).

Figure 1 An image of a 2-year-old boy shows sparse scalp hair, skimpy eyebrows and eyelashes, and fully everted lips.

Both the upper and lower eyelids showed scanty eyelashes, and full everted lips were shown. The nasal bridge was depressed.

His skin was dry, warm, scaly, sensitive, and excoriated (Fig. 2).

Figure 2 Dry and excoriated skin.

Intraoral examination confessed the child had no mandibular teeth and maxillary hypodontia with only two small, widely spaced conical teeth (Fig. 3).

Figure 3 Maxillary hypodontia with conical incisors.

The patient’s complete blood count, TSH, T3,T4, and urine analysis were normal. A little bit of lack of cortisol had been shown.

The skull X-ray was normal and did not mention any abnormalities.

Based on the history, clinical features, and examination, the child was diagnosed with a case of HED.

Discussion

This paper represents the second case of HED in the Syrian Arab Republic; the first case in Syria has been reported by Alajami and Saker19.

HED is the most common type of ED condition and presents defects in the development of hair, teeth, and exocrine glands.

The are no diagnostic criteria guidelines for HED8.

The clinical characteristics of the 2-year-old boy were skin dryness, sparse hair, hypodontia, heat intolerance, and febrile convulsions in early childhood, which were managed by antipyretic drugs.

These clinical characteristics, in addition to the family history, were the base we depended on to make the diagnosis of HED.

The management of the patient with HED is palliative.

Our recommendations for the patient were as follows:avoiding big physical effort;

avoiding sun exposure for long times;

start treating any infection, even simple ones;

using moisturizing and body lotions to avoid dryness of the skin;

observing vitamin D values as the patient cannot have enough sunlight;

observing body temperature and assembling it by showers and cold drinks;

eating only liquid food and avoiding hot and salty food;

using antihistamines H1 when needed;

corticosteroids used for treating eczematous skin;

teeth abnormalities should be corrected by prosthetic treatment.

The importance of this case report is represented by being the first case of HED diagnosed in a symptomatic child in Syria. In addition, this case reconsiders the endogamy phenomenon, which is very common in many Syrian regions. HED is rare, and our case report is making Syrian medical staff more familiar with HED disease and its management.

Conclusion

This case spots the light on the dermatological clinical manifestations that should be correlated with other systematic symptoms, past medical history of the patient, and the family history to make the right diagnosis of HED.

This disorder needs multidisciplinary contribution to improve the general health of those patients, quality of life, and decrease morbidity and mortality among patients with HED.

Ethical approval

Ethical approval was obtained from the research ethic committee in Police Hospital, Damascus, Syria.

Patient consent

Written informed consent was obtained from the father of the patient for publishing the case report and all the accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Sources of funding

None.

Author contribution

M.T.M.N.A.: patient follow-up, literature search, and writing the manuscript. L.A.: literature search, writing the manuscript, article corrections, and submitting the manuscript. M.M.A.: patient follow-up and reviewing the manuscript. All the authors revised and approved.

Conflicts of interest disclosure

There are no conflicts of interest.

Research registration unique identifying number (UIN)

1. Name of the registry: NA.

2. Unique identifying number or registration ID: NA.

3.Hyperlink to your specific registration (must be publicly accessible and will be checked): NA.

Guarantor

L. Abdullah, Tel: +963 997 769 874, E-mail: lava7abdullah@gmail.com

Provenance and peer review

Not commissioned, externally peer reviewed

Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article.

Published online 17 February 2023
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