Expanding the phenotype of multifocal lymphangioendotheliomatosis with thrombocytopenia.
Multifocal lymphangioendotheliomatosis with thrombocytopenia is characterized by vascular skin and gastrointestinal (GI) tract lesions, thrombocytopenia, and GI bleeding. The first patient had scattered red macules and subcutaneous nodules on the skin with involvement of the lungs, liver, omentum, and right kidney. At 10 months of age he continues to have severe GI bleeding. The second patient had innumerable vascular plaques on the skin plus muscle, bone, lung, liver, and brain involvement. She died from respiratory failure at 8 months of age due to brainstem involvement. Both patients required aggressive management of GI bleeding, but had quite different skin findings and long-term outcomes.
Maronn
Mandi
M
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. mmaronn@yahoo.com
Catrine
Kristina
K
North
Paula
P
Browning
Meghen B
MB
Kerschner
Joseph E
JE
Noel
Richard
R
Drolet
Beth A
BA
Kelly
Michael
M
D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology*; D041981:Gastrointestinal Tract / Q000098:blood supply / Q000473:pathology; D006801:Humans; D007223:Infant; D008168:Lung / Q000473:pathology; D008297:Male; D010641:Phenotype; D012867:Skin / Q000098:blood supply / Q000473:pathology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000473:pathology* / Q000503:physiopathology*; D013921:Thrombocytopenia / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology*; D054079:Vascular Malformations / Q000150:complications / Q000473:pathology / Q000503:physiopathology