Open AccessWarty skin changes, chronic scrotal lymphoedema, and facial dysmorphism
Author(s) -
Moritz Felcht,
Nicola Dikow,
Matthias Goebeler,
Philipp Stroebel,
Nina Booken,
Urs Voßmerbäumer,
Kirsten Merx,
Thomas Henzler,
Alexander Marx,
Ute Moog,
Sergij Goerdt,
ClausDetlev Klemke
Publication year - 2010
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.08.2009.2214
Subject(s) - medicine , palpebral fissure , dermatology , nose , forehead , ptosis , anatomy , surgery
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.