Hurler syndrome (HS) belongs to the category of mucopolysaccharidosis (MPS), a spectrum of rare genetic disorders of the mucopolysaccharides metabolism. This syndrome is due to a defect in α-iduronidase, an enzyme responsible for the degradation of the glycosaminoglycans (GAGs) heparin and dermatan sulfate. Intra and extracellular accumulation of these non-metabolized substances may lead to multisystemic dysfunction, with severe stomatognathic involvement that may often need treatment. The aim of this article is to present the heterogeneity of orofacial and radiographic findings observed in two patients with HS with long-term follow-up, who were referred to our Stomatology department.

Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase. It is characterized by dystonia and compulsive self-mutilation, in particular, biting behavior on the oral mucosa, tongue, lips, fingers, and shoulders, typically before one year of age. The majority of these patients require several procedures, including dental extractions, to prevent significant secondary lesions. This article aims to report a clinical case of a 12-year-old boy with an LNS diagnosis who was referred to the Paediatric Stomatology Department of Central Lisbon University Hospital. Since the age of eight, the patient had displayed self-harm behavior, with arm and oral injuries. On evaluation, he presented with deep ulcerated lesions on the lips and tongue, with substance loss associated with a significant decrease in food intake and consequent weight loss. The management included conservative therapy with gabapentin, lorazepam, and botulinum toxin injections. A successful reduction of self-mutilation with no signs of new lesions in the oral cavity and an improvement in nutritional status were reported. The therapeutic approach is essential to provide the best quality of life for patients and their caregivers. To delay radical treatments, multiple therapeutic options can be used. The oral pathology team considered that the most appropriate therapy was botulinum toxin A injections along with therapeutic adjustment, which was effective in wound healing and self-mutilation behavior ceasing at the two-month follow-up.