Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome.

The purpose of this paper was to report the case of a 6-year-old male patient who was clinically diagnosed as having Rapp-Hodgkin syndrome-a variant of ectodermal dysplasia characterized by dysplastic disorders of the skin, hair, and nails associated with cleft lip and/or palate. The patient exhibited only the primary maxillary and mandibular canines bilaterally. Restorative treatment was performed on all primary canines, followed by aquisition of maxillary and mandibular impressions for fabrication of acrylic removable partial dentures with circumferential clasps on the primary canines. The dentures allowed recovery of the vertical dimension and excellent esthetics. Hypodontia of several teeth associated with ectodermal dysplasia, as in this case involving Rapp-Hodgkin syndrome, causes several functional and esthetic alterations. These disorders should be diagnosed and treated as early as possible to restore the normal function, allow adequate mastication and speech, enhance esthetics, and, consequently, promote the patient's self-esteem and social integration.

Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease.

The tumor necrosis factor (TNF) and TNF receptor (TNFR) superfamilies comprise multidomain proteins with diverse roles in cell activation, proliferation and cell death. These proteins play pivotal roles in the initiation, maintenance and termination of immune responses and have vital roles outside the immune system. The discovery and analysis of diseases associated with mutations in these families has revealed crucial mechanistic details of their normal functions. This review focuses on mutations causing four different diseases, which represent distinct pathological mechanisms that can exist within these superfamilies: autoimmune lymphoproliferative syndrome (ALPS; FAS mutations), common variable immunodeficiency (CVID; TACI mutations), tumor necrosis factor receptor associated periodic syndrome (TRAPS; TNFR1 mutations) and hypohidrotic ectodermal dysplasia (HED; EDA1/EDAR mutations). In particular, we highlight how mutations have revealed information about normal receptor-ligand function and how such studies might direct new therapeutic approaches.

[Anhidrotic ectodermal dysplasia: report of one case at Mother and Child Center of Chantal Biya Foundation, Yaounde, Cameroon]. / La dysplasie ectodermique anhydrotique : à propos d'un cas au Centre Mère et Enfant de la Fondation Chantal Biya, Yaoundé, Cameroun.

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.

Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia.

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.

Rapp-Hodgkin syndrome: clinical and dental findings.

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.

Multiple agenesis and anhidrotic ectodermal dysplasia: a comparative longitudinal study of dental similarities and genetic differences in two groups of children.

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.

Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.

The ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant dysplasia syndrome, whose pleiotropic effects involve mainly ectodermal structures. The most common clinical manifestations are ectodermal dysplasia, ectrodactyly , cleft lip/palate, and tear-duct anomalies. Very rarely the ectrodactyly may be absent, and skeletal abnormalities may be subtle. We present a 44-month-old girl who had features of EEC syndrome but without the classic ectrodactyly.