HYPOHIDROTIC ECTODERMAL DYSPLASIA : TEN CASES

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Published Dec 9, 2009
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Vol. 87 No. 12 (2009): Issue Dec 2009

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Nadia Ezzine Sebai
Aida Khaled
Monia Kharfi
Alia Bouzgarrou
Hana M'halla
Meriem Jones
Bécima Fazaa
Mohamed Ridha Kamoun

Abstract

Background : Ectodermal dysplasias are rare hereditary diseases characterised by congenital absence of ectodermally derived structures and classified according to four symptoms: trichodysplasia, hypodontia, onychodysplasia and hypohidrosis.
Objective: The objective of our study is to precise the epidemioclinical characteristics, the diagnostic tools, the evolution and the treatments of this rare disease through a 10-case series of hypohidrotic ectodermal dysplasia (HED).
Methods: The present report is a retrospective study of all cases of an/hypohidrotic ectodermal dysplasia collected from 1977 to 2006. We have specified age, sex, parental consanguinity, similar familial cases, clinical and histological features, dental, oto-rhino-laryngologic, ophthalmologic and respiratory examinations.
Results: Ten cases of HED were collected (average age: 14 years, sex ratio 9/1). The mean duration diagnostic period was of 14 years. Parental consanguinity was registered in 3 cases but only one patient had similar familial cases. All patients had facial dysmorphy, hypotrichosis and hypo/anodontia (respectively 8/10 and 2/10). All patients had clinically and histologically documented hypoplastic (6/10) or aplastic sweat glands (4/10). Extra-cutaneous manifestations were noted in 8 patients (recurrent rhinitis 6/10, recurrent pneumopathies 3/10, xerophtalmy 3/10).
Conclusion : Our series deals with 10 cases of HED, consisting in Chris- Siemens Touraine syndrome. It highlights the delayed diagnosis of this disease (mean: 14 years) with a diagnosis made at an adult age in four patients. Our study confirm the X-linked heredity (9/10) with a possible autosomal transmission (one female-case). HED is rarely life-threatening, but early diagnosis allows a better quality of life to patients and genetic counselling to parents. Our series illustrates the rarity of HED which is also probably due to its underestimation by clinicians.

Keywords:

Ectodermal dysplasias, Chris-Siemens Touraine syndrome

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