AbstractPurposeKimura disease is a sporadic disease of unknown etiology, that mostly affects young Asian males. Major signs are subcutaneous nodules and parotitis, but cases can be revealed by lid or caruncle swelling. We report the case of a child with a caruncle lesion that results from Kimura disease.MethodsA 12‐year‐old boy born to a Caucasian father and a Vietnamese mother was referred for a bilateral caruncle swelling developing over 18 months. Family history revealed a Kimura disease in father’s history. The ophthalmological examination showed a painless bilateral salmon‐colored swelling of the caruncles. The pediatric examination found an ongoing parotitis, and no dermatological lesion. Orbital MRI was normal and biology showed an increased level of total blood IgE. A surgical removal of the lesions was performed. Anatomopathological analysis was consistent with a Kimura disease: a follicular lymphoid hyperplasia with germinal centers and fibrosis. A few months later, the child developed a nephrotic syndrome.ResultsBesides the problem of the complex diagnosis raised by this case, the other issue is the pathophysiology of this condition, so far known as sporadic. Indeed, the present two cases in a father and his child may suggest a genetic predisposition. Few studies head in that direction showing clonal rearrangements on the T‐cell receptor genes in Kimura disease.ConclusionsMajor signs of Kimura disease are dermatological, but uncommon sites can be seen, such as the caruncle. An accurate diagnosis is essential due to its possible association with nephrotic syndrome, but is difficult and supported by the anatomopathological analysis. The familial cases we report challenge the formerly postulated hypothesis of a sporadic condition.
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