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BMJ Case Rep. 2010; 2010: bcr08.2009.2214.
Published online 2010 May 19. doi:  10.1136/bcr.08.2009.2214
PMCID: PMC3047285
Reminder of important clinical lesson

Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism

Abstract

We present the case of a 49-year-old Caucasian man whose main complaints were wart-like skin changes and scrotal lymphoedema. Furthermore, our patient showed signs of a common hereditary disease: lymphoedema, short stature, webbed neck, low frontal and posterior hairline, downslanting palpebral fissures, pale blue iris, broad nose, flat philtrum, and prominent nasolabial folds. His ears were low set and retroverted with a thick helix. However, no diagnosis was made for 49 years. The interdisciplinary dialogue of various specialists to make the final diagnosis is presented and discussed.


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