ABSTRACT
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. 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]. 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. 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-cutaneons manifestations were noted in 8 patients [recurrent rhinitis 6/10, recurrent pneomopathies 3/10, xerophtalmy 3/10]. Our series deals with 10 cases of HED, consisting in Chris-Siemens Taos-nine syndrome. It highlights the delayed diagnosis of Ibis 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 RED which is also probably due to its underestimation by clinicians