Pseudoxanthoma elasticum of the skin with involvement of the oral cavity.

Pseudoxanthoma elasticum (PXE) is an inherited multisystemic disease of elastic fibers that primarily affects the skin and retina. A case of primary PXE of the skin with late involvement of the upper lip is reported. A 55-year-old woman with a previous diagnosis of PXE affecting her skin developed a lesion on her lower lip. An oral examination identified a yellowish macule of undefined limits. A biopsy from her lip was taken and both light and transmission electron microscopies confirmed the presence of fragmented elastic fibers and calcifications on her mucosa, which was compatible with the diagnosis of oral PXE. Since the manifestation of oral PXE is rare in this region, dental practitioners must be aware that this systemic condition may produce oral lesions, which sometimes may mimic other benign diseases of the oral cavity like Fordyce granules. So, the establishment of an appropriate diagnosis is necessary to provide adequate information and attention to the patient.

Acometimento oral em portador de neurofibromatose tipo I / Oral involvement in a patient with neurofibromatosis type I

A neurofibromatose do tipo 1, também conhecida como neurofibromatose de von Recklinghausen, é doença autossômica dominante, que afeta 1:3000 recém- nascidos. Aproximadamente 50% dos pacientes de NF1 não apresentam história familiar da doença. Língua, rebordo alveolar da mucosa bucal, gengivas, lábios, palato, assoalho da boca e o espaço faringomaxilar podem ser acometidos por tumores em associação com NF1, sendo a língua o local mais comum. Relata-se o caso de paciente do sexo feminino, de 29 anos, apresentando neurofibroma na língua, ressaltando-se a possibilidade de manifestações da doença na cavidade oral e seus diagnósticos diferenciais.

Neurofibromatosis type 1, also known as von Recklinghausen neurofibromatosis, is an autosomal dominant disorder that affects 1 in 3,000 newborns. Approximately 50% of neurofibromatosis type 1 patients have no family history of the disease. The tongue, the alveolar ridge of the buccal mucosa, gums, lips, palate, floor of the mouth, and pharyngomaxillary fossa can be affected by tumors associated with this condition; the tongue is the most common site. We report the case of a 29-year-old female patient with neurofibroma in the tongue, highlighting the possibility of disease manifestations in the oral cavity and differential diagnoses.