[Anhidrotic/hypohidrotic ectodermal dysplasia: ten cases].

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.

AIM:

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.

• Authors: Nadia Ezzine Sebai, Aida Khaled, Monia Kharfi, Alia Bouzgarrou, Hana M'halla, Meriem Jones, Bécima Fazaa, Mohamed Ridha Kamoun
• Journal: La Tunisie medicale (Tunis Med) Vol. 87 Issue 12 Pg. 805-9 (Dec 2009) ISSN: 0041-4131 [Print] Tunisia
• Vernacular Title: Dysplasie ectodermique hypo/anhidrotique: 10 observations.
• PMID: 20209845 (Publication Type: English Abstract, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adolescent
• Adult
• Child
• Child, Preschool
• Consanguinity
• Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive (diagnosis, genetics)
• Female
• Humans
• Infant
• Male
• Retrospective Studies
• Young Adult