title: [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.
  
  
  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).
  
  
  CONCLUSIONS
  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.affiliation: Service Dermatologie, Hôpital Charles Nicolle, Tunis, Tunisie.
authors.forename: Nadia
authors.initials: N
authors.lastname: Ezzine Sebai
authors.forename: Aida
authors.initials: A
authors.lastname: Khaled
authors.forename: Monia
authors.initials: M
authors.lastname: Kharfi
authors.forename: Alia
authors.initials: A
authors.lastname: Bouzgarrou
authors.forename: Hana
authors.initials: H
authors.lastname: M'halla
authors.forename: Meriem
authors.initials: M
authors.lastname: Jones
authors.forename: Bécima
authors.initials: B
authors.lastname: Fazaa
authors.forename: Mohamed Ridha
authors.initials: MR
authors.lastname: Kamoun
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D055815:Young Adult