The finger points to the diagnosis

Abstract

Blue rubber bleb nevus syndrome, Klippel-Trenaunay-Weber syndrome, KTWS, Maffucci syndrome, nevus flammeus,Osler-Weber-Rendu syndrome.A 24-year-old man presented to the emergency room with a3-month history of bright red blood per rectum and increas-ing fatigue. Review of systems was significant for intermit-tent hematuria, swelling, and pain in his lower extremities.He denied abdominal pain, nausea, or vomiting, and wasotherwise asymptomatic. He was not taking any medicines.He said that he has had this bleeding problem on and offsince he was a child. The chronic intermittent rectal bleed-ing usually resolved spontaneously. Previous treatmentshave consisted of blood transfusions, small bowel resec-tions, and a partial colectomy.Physical exam demonstrates a thin and well-nourished Afri-can American male in no distress. Temperature 36.7 C, bloodpressure while sitting was 111/65 mmHg, with a pulse of 117beats per minute; on standing his blood pressure was 103/54mmHg, with a pulse of 137 beats per minute, and respirationswere 18 breaths per minute. Abdominal examination revealedsplenomegaly. Rectal exam revealed the presence of bright redblood. Other significant findings include unilateral limb skele-tal asymmetry with the right upper and lower extremity beinglonger than the left side. There was significant hypertrophy ofseveral digits of the hands and feet bilaterally (Figure 1). Nota-ble was the presence of raised, hyperpigmented irregular linearplaques, extending from his right medial forearm to his chestand also from his abdomen to right medial thigh. Additionalskin examination was remarkable for well-demarcated, raisedvascularareasonthelateralthighsandkneesbilaterally(Figure2), as well as the dorsum of both the feet. Laboratory workupwas notable for hemoglobin of 2.7gm/dl, a hematocrit of 9%,and meancorpuscularvolume (MCV) of58fl. Normalcoagula-tion parameters, and profound iron deficiency (iron level 16mcg/dland ferritin<20ng/ml).Other routine laboratory results including coagulationparameters were unremarkable.