Abstract
This report describes the diagnostic process of lipoid proteinosis, a rare disorder with more than 300 reported cases, in a female child. The patient presented initially as a 7-year-old with multiple, whitish submucosal nodules of a fibrous consistency in the lower lip, but with an inconclusive pathology report. When she was 9 years old, she presented with exacerbation of the original clinical findings, which then involved the upper lip, buccal mucosa, and tongue. Dermatologic lesions were noted on the child’s limbs and face, and the patient had developed a hoarse voice. Histopathologic examination of the buccal mucosa revealed dense connective tissue with hyaline foci, which were positive with periodic acid-Schiff staining and resistant to diastase digestion. MRI revealed calcium deposits in her amygdala, and nasopharyngolaryngoscopy revealed lesions in her vocal cords. The patient is currently stable and under multidisciplinary follow-up, but no treatment has been recommended.
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