[Inflammatory-like cervical tumefaction].
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Biomedical subjects
Publications and source records attributed to S Riscala.
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INTRODUCTION: Anhidrotic ectodermal dysplasia (AED) or Christ-Siemens-Touraine syndrome is a rare, hereditary genodermatosis, classically X-linked recessive disorder. MATERIAL AND METHODS: [corrected] We report the cases of 3 children and a male adult. RESULTS: The mode of diagnosis, the clinical signs and the therapeutic option are detailed. DISCUSSION: AED is characterized by a malformative state derived from the ectodermal layer of the embryo which results in the triad: anhidrosis (or hypohidrosis), hypotrichosis, anodontia (or hypodontia). Hypohidrosis causes thermoregulation disorders, which in the infant, can be life threatening. It is important to recognize the affection early to avoid accidents of hyperthermia. Once the diagnosis is established, family investigations are necessary to determine whether it is a family form or a new sporadic case. Carrier mothers must be informed of the high risk recurrence for future male infants. Symptomatic maxillo-facial treatment strives to improve masticatory function and facial growth and thus limit the psychological impact and improve patient comfort.
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Recommended treatment for head and neck cancer associates surgery and radiotherapy. Indication for bone-anchored epitheses in irradiated patients is also a common situation. The outcome of the implant appears to be improved with a special protocol for hyperbaric oxygen therapy, antibiotic therapy and calcitherapy. The problem of radiotherapy in patients with titanium osseointegrated implants is also discussed.