ABSTRACT
Ectodermal dysplasia are rare genetic diseases characterized by the absence or dysplasia of some tissues of ectodermal origin. We present a case of a young boy seen at the age of seven and a half years for late eruption of teeth, morphologic abnormalities of the teeth and a feeling of exaggerated heat. The diagnosis of anhidrotic ectodermal dysplasia was discussed. The absence of sweat glands on the skin biopsy slides was in favor of the diagnosis. Dental prostheses were put in place which the aim of permitting the child to eat normally and have a better self image.
Subject(s)
Ectodermal Dysplasia 1, Anhidrotic/complications , Ectodermal Dysplasia 3, Anhidrotic/complications , Tooth Abnormalities/etiology , Biopsy , Cameroon , Child , Denture, Complete , Ectodermal Dysplasia 1, Anhidrotic/genetics , Ectodermal Dysplasia 3, Anhidrotic/genetics , Humans , Male , Radiography , Rare Diseases , Skin/pathology , Tooth Abnormalities/diagnostic imaging , Tooth Abnormalities/therapy , Treatment OutcomeABSTRACT
OBJECTIVE: The aim of this study was to provide a quantification of taurodontism in Hypohidrotic Ectodermal Dysplasia (HED) and to report its occurrence in a cohort of HED patients to assess phenotypic-genotypic correlations. PATIENTS AND METHODS: Of 68 HED patients retrospectively reviewed, 16 patients aged 7-51 years were selected and compared with a control sample (n = 351). The pulp surface index of the first lower permanent molar was calculated from the panoramic radiograph of each individual, and statistical comparisons between the HED patients and the control sample were performed. RESULTS: Whatever the genetic disorder, 81.25% of the HED patients exhibited a relative enlargement (>or=1 s.d.) of the pulp. Major deviations (>5 s.d.) were respectively related to men affected by large deletion of the EDA gene or missense mutation. The autosomal recessive form was linked to a relative moderate pulp enlargement (3.44 s.d.). In NEMO forms, the increase of pulp size in men appeared to be less marked than in EDA mutations. CONCLUSION: This study provides for the first time an objective assessment of pulp enlargement in HED patients, and the various degrees of taurodontism depicted could be interesting dental phenotypic markers of HED forms.
Subject(s)
Dental Pulp Cavity/abnormalities , Ectodermal Dysplasia 1, Anhidrotic/diagnosis , Ectodermal Dysplasia 3, Anhidrotic/diagnosis , Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive/diagnosis , Tooth Abnormalities/genetics , Adolescent , Adult , Case-Control Studies , Child , Child, Preschool , DNA Mutational Analysis , Dental Pulp Cavity/diagnostic imaging , Ectodermal Dysplasia 1, Anhidrotic/complications , Ectodermal Dysplasia 1, Anhidrotic/genetics , Ectodermal Dysplasia 3, Anhidrotic/complications , Ectodermal Dysplasia 3, Anhidrotic/genetics , Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive/complications , Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive/genetics , Ectodysplasins/genetics , Female , Humans , I-kappa B Kinase/genetics , Male , Middle Aged , Molar/abnormalities , Molar/diagnostic imaging , Mutation, Missense , Radiography , Retrospective Studies , Sequence Deletion , Tooth Abnormalities/etiology , Young AdultABSTRACT
Rapp-Hodgkin syndrome is a rare form of ectodermal dysplasia involving the hair, eyes, sweat glands, nails, teeth and palate. This syndrome is characterized by stiff sparse hair with the appearance of steel wool, sparse eyebrows and lashes, cleft palate, absence of lacrimal punctae, epiphora, a decreased number of sweat glands, and dystrophic nails. Cleft palate, hypodontia, abnormal tooth shape, multiple caries, delayed eruption of teeth are the main oral manifestations. In this paper we describe the clinical and dental findings of this syndrome in a 7 year old girl referred to the dental clinic because of severe tooth ache. The dental treatment included root canal treatment, composite restorations, extractions and removable prostheses. This paper highlights features of Rapp-Hodgkin Syndrome and its dental rehabilitation.
Subject(s)
Ectodermal Dysplasia 3, Anhidrotic/complications , Ectodermal Dysplasia 3, Anhidrotic/pathology , Tooth Abnormalities/etiology , Anodontia/etiology , Anodontia/rehabilitation , Child , Cleft Palate/etiology , Consanguinity , Dental Restoration, Permanent , Denture, Partial, Removable , Female , Humans , Pedigree , Root Canal Therapy , Syndrome , Tooth Abnormalities/rehabilitationABSTRACT
AIM: Dental anomalies in shape and number may be present isolated or associated with other manifestations. In anhidrotic ectodermal dysplasia they occur more frequently and severely. The authors examined a group of children with similar dental anomalies but no other ectodermal or extra-ectodermal signs. METHODS: This study makes a comparative evaluation of similarities and differences of dental anomalies between two groups: A anhidrotic ectodermal dysplasia and B similar dental finding but without extra- dental anomalies. RESULTS: In group A, the average number of agenesis in primary teeth was 3.5 (upper) and 5.33 (lower); in permanent teeth it was 5.4 and 5.8, respectively. In group B, the average was 1.62 (upper) and 0.25 (lower) in primary teeth, and 4.0 and 4.25 in permanent teeth respectively, with no constant pattern of occurrence. The study of tooth morphology of both groups revealed numerous anomalies in both dentitions. No differences were found in the average number of agenesis and morphological anomalies in the permanent teeth between both groups, but in the primary dentition group B presented a lower degree of incidence. CONCLUSION: The presence of almost normal primary dentition (regarding to number), but with morphological anomalies, should lead to suspect their exacerbation in the permanent dentition.