[Hypohidrotic ectodermal dysplasia: ten cases]

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