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Reminder of important clinical lesson
Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism
  1. Moritz Felcht1,
  2. Nicola Dikow2,
  3. Matthias Goebeler3,
  4. Philipp Stroebel4,
  5. Nina Booken1,
  6. Urs Voßmerbäumer5,
  7. Kirsten Merx6,
  8. Thomas Henzler7,
  9. Alexander Marx4,
  10. Ute Moog2,
  11. Sergij Goerdt1,
  12. Claus-Detlev Klemke1
  1. 1University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167, Germany
  2. 2Ruprecht-Karl-University of Heidelberg, Institute of Human Genetics, Im Neuenheimer Feld 366, Heidelberg, 69120, Germany
  3. 3University of Giessen and Marburg, Department of Dermatology, Venerology and Allergology, Gaffkystr. 14, Gießen, 35385, Germany
  4. 4University of Medicine Mannheim, Department of Pathology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany
  5. 5University of Medicine Mannheim, Department of Ophthalmology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany
  6. 6University of Medicine Mannheim, Department of Hematology and Oncology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany
  7. 7University of Medicine Mannheim, Department of Radiology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany
  1. Correspondence to Moritz Felcht, moritz.felcht{at}umm.de

Summary

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.

https://doi.org/10.1136/bcr.08.2009.2214

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    Footnotes

    • Competing interests: None.

    • Patient consent: Patient/guardian consent was obtained for publication. The patient was not involved in a clinical trial.