Article Text

PO-0989 Ectodermal Dysplasias: Twists In An Old Tale
  1. N Boutrid1,
  2. H Rahmoune1,
  3. M Amrane2,
  4. B Bioud1
  1. 1Pediatrics, Child and Mother Hospital, Setif, Algeria
  2. 2Biochemistry, University Hospital, Setif, Algeria

Abstract

Introduction Ectodermal dysplasia (ED) are hereditary disorders involving congenital anomalies of different ectodermal structures, the most prominent being the adontia/hypodontia.

We present several cases: isolated, associated and syndromic.

Methods and description The examination of affected children revealed in all cases rare bevel teeth, delayed and abnormal teething, with a thin and patchy hair with rare eyelashes and eyebrows

The examination confirms asudoral hyperthermia episodes at young age

Five children (two brothers and 3 other from different families) consult for delayed dentition with tapered appearance of their few teeth (quantitatively and qualitatively defective) and present with facial dysmorphism, fine hair.

Another boy has, in addition, skin xerosis with difficult to control intermittent asthma, probably associated with immune deficiency. The last patient, also a male one has, in addition to DE, a congenital hypothyroidism and cleft palate. In all our patients, dental panoramic radiograph confirms the diagnosis.

Results and Discussion The ED are inherited disorders OMIM 305100, locus Xq12-Q13.1 involving dental conditions, glands and skin appendages (hair and nails), with an estimated frequency <10/100, 000 live births.The recessive transmission (autosomal or X-linked) is to be determined by molecular genetics.The risk of associated anomalies (including immune deficiency) is to be highly considered.

Management is symptomatic: orthodontics, eviction from heat and fever treatment, application of emollients to skin.

Conclusion DE are hereditary embryopathies affecting the teeth and other structures derived from the ectoderm. Diagnosis is clinical, confirmed by radiology. The treatment is, up to now, only symptomatic.

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