|Year : 2018 | Volume
| Issue : 4 | Page : 352-354
Living in the sub-sahara with anhidrotic ectodermal dysplasia: Report of two cases
Department of Paediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
|Date of Web Publication||2-Aug-2018|
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
Source of Support: None, Conflict of Interest: None
Ectodermal dysplasia occurs worldwide. It is a hereditary disorder, and there are predominately two forms as follows: X-linked anhidrotic form and an autosomal dominant hidrotic form. It is mainly characterized by defects of the hairs which are sparse, nail defects, dental abnormalities, and the presence or absence of the eccrine glands. However, our cases had an abnormality of all four ectodermal structures. While they refused dental prosthesis, their major complaint had been heat intolerance which is a big treatment challenge in a hot climate as experienced in Kano Nigeria.
Keywords: Autosomal recessive, ectodermal dysplasia, heat intolerance, hot climate
|How to cite this article:|
Aliyu I. Living in the sub-sahara with anhidrotic ectodermal dysplasia: Report of two cases. Med J DY Patil Vidyapeeth 2018;11:352-4
| Introduction|| |
Ectodermal dysplasia (ED) is a heterogeneous hereditary disorder of the ectoderm characterized by abnormalities of the skin and its appendages. It maybe a pure primary ectodermal defect or syndromic, in association with abnormalities of other organs. ED is a complex group of diseases with over 170 variant  with an incidence of 1:100,000. Broadly, when two or more abnormal ectodermal features are present, such as malformed teeth, extremely sparse hair or alopecia, the diagnosis of ED syndrome is considered. However, several classification systems have been developed, but it is mainly classified as hidrotic or anhidrotic ED. Anhidrotic ED which is characterized by reduced or absent sweating could pose a big challenge living in a hot climate like northern Nigeria where temperatures can rise to 40°C in the dry season. We, therefore, present the case of two sisters who have been battling heat intolerance since infancy.
| Case Report|| |
Two sisters aged 8 and 11-year, respectively, presented with complaint of excessive heat perception, which parents noticed since early infancy. they cried excessive as newborns; overtime parents realized that they got relieved when sponged with cold water; as they grew older and could verbalize, they complained of not sweating, excessive heat perception and usually move around with water soaked towels. Parents complained of frequent cough and sore throat, nasal discharge, which they attributed to repeated application of cold towel and cold drinks; they were initially reviewed in a secondary health facility and thyroid function tests were requested which turned out normal. They had never had any primary tooth eruption [Figure 1], have sparse hairs, absent eyelashes and eyebrows, [Figure 2], scaling of the skin with hyper pigmentation of the facial skin with prominent lips and plantopalmar keratosis [Figure 3]. They are products of consanguineous marriage in a family of six children. There was no family history of a similar complaint. Based on their clinical features, the diagnosis of anhidrotic ED was made. The children declined any intervention for the alopecia, adontia. they preferred the use of head ties and they could masticate their regular meals, therefore, refused any form of dental prosthesis. They were counseled on effective temperature control.
| Discussion|| |
There are predominately two forms of ED; the X-linked recessive anhidrotic form otherwise called Christ-Siemens-Touraine syndrome More Details; it is characterized by markedly reduced or absent sweat glands and the autosomal dominant hidrotic form otherwise called Clouston's syndrome is characterized by the presence of sweat glands. However, the index cases were both females with anhidrotic form; being products of a consanguineous union an autosomal recessive mode of inheritance is most plausible explanation. This, therefore, make these cases unique because of its reported rarity; though female carriers in the X-linked form of the disease have been shown to occasional express milder forms of the defects.
Pinheiro and Friere Maia in 1982 classified ED into different subgroups based on the presence of abnormalities in ectodermal structures such as the presence of hairs or alopecia, nail abnormalities (onychodysplesia), dental anomalies, and eccrine gland abnormalities. These were classified as group A if there is the presence of two or more of these four classical ectodermal abnormalities or group B if there is the presence of one of these classical abnormality with a defect of any other ectodermal defects such as lip, ear abnormalities. Therefore, our index cases are classified as group A, because they had all four classical ectodermal abnormalities. The repeated cough, nasal discharge (ozaena) is not uncommon with ED; this is attributable to abnormalities of the eccrine glands. However, ED may be associated with specific of immune deficiencies, these were not assayed in the index cases.
There are few case reports of ED in Nigeria;,, the first reported in 1975 by Familusi et al. From these reports, the anhidrotic type is the most common, and all were autosomal recessive; the biggest challenge in managing these patients in a tropical country like Nigeria had been treating heat intolerance. We advised our patients to always drink enough water and avoid excessive exposure to the sun, especially during peak hours (12–2 pm).
| Conclusion|| |
Autosomal recessive anhidrotic ED is rare, and few cases have been reported in Nigeria so far; however, our cases had a complete and severe expression of the major ectodermal abnormalities with anodontia.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]