Case Report and Literature Review: A Family with Concurrent Buschke-Ollendorff-Syndrome and X-linked ichthyosis, or a Novel Genodermatosis?

Abstract

We report a 46-year-old woman with disseminated whitish papules on her back, face and extremities that were first noticed when she was a teenager. In recent years, the number of the papules has been slowly increasing. A punch biopsy revealed an elastoma. The patient has a 16-year-old daughter and an 11-year-old son. Both showed multiple whitish, hardened plaques on the trunk. The histological changes were consistent with connective tissue nevi. Additionally, the boy suffered from generalized ichthyosis since his birth, a condition that he “inherited” from his maternal grandfather, according to his mother. This family may possess two rare genodermatoses (Buschke-Ollendorff-Syndrome and X-linked ichthylosis) concurrently. It is also possible that we present the first case of a novel  genodermatosis. 

Published in: ASDP 60th Annual Meeting

Publisher: The American Society of Dermatopathology
Date of Conference: October 2-8, 2023