Isolated palpebral tumor revealing Von Recklinghausen's neurofibromatosis: a case report

Von Recklinghausen's neurofibromatosis is the most frequent of phakomatoses. Its incidence is 1/2,500-3,000 births. It is inherited through a dominant autosomal mode with a strong prevalence and changing expression. Eye and skin signs are essential to diagnosis and this case provided a noteworthy example of a unilateral upper palpebral tumor revealing this disease. We report a case of a 6-year-old boy whose original clinical manifestation was a tumor on the upper eyelid of the right eye, present at birth. According to the anamnesis, this palpebral tumor gradually increased in size, causing a full ptosis. A biopsy exeresis of the tumor was carried out with an anatomicopathological study of the biopsy specimen, confirming the diagnosis. The anatomicopathological study of the biopsy specimen enabled diagnosis of a neurofibromatosis revealed by this isolated palpebral localization responsible for significant aesthetic and functional damage.