1. Home>
2. Specialties>
3. Dermatology>
4. Summary and Comment

A New Entity: Multifocal Lymphangioendotheliomatosis with Thrombocytopenia

Multiple vascular papules in a newborn signal a need for testing.

Multifocal vascular anomalies, including neonatal hemangiomatosis (benign and disseminated), blue rubber bleb nevus syndrome, Maffucci syndrome, and hereditary hemorrhagic telangiectasia, are rare. These authors describe a new entity with a unique clinical constellation: multiple congenital burgundy-colored vascular papules; acute, severe gastrointestinal (GI) hemorrhage in the first month of life; and distinctive lymphatic differentiation on biopsy examination. They have termed this entity "multifocal lymphangioendotheliomatosis with thrombocytopenia."

Three newborns at three different institutions had hundreds of cutaneous vascular papules and nodules. Soon, thrombocytopenia at levels as low as 33 x 10³/µL developed. During the first 2 to 4 weeks of life, acute episodic GI bleeding occurred, necessitating hospitalization and transfusion. One infant required 250 transfusions. The infants had little response to systemic steroids or interferon alfa-2a. After endoscopy followed by gastrostomy, suture ligation of gastric hemangiomas, or partial colectomy, all patients survived.

On biopsy examination, lesions showed similar features: dilated, thin-walled vessels in the dermis and subcutis lined by hobnailed, proliferative endothelial cells with intraluminal papillary projections. Immunostaining for the lymphatic marker LYVE-1 was uniform. All patients had chronic, fluctuating coagulopathy.

At age 6 years, the first patient had severe hip pain, a 2-cm leg-length discrepancy, and flexion contracture from synovium involvement. The second patient had new cutaneous lesions at age 6. The third patient had facial disfigurement from excision of a large maxillary lesion and developed new cutaneous lesions at age 11.

Comment: We should consider CBC, platelet count, and examination of coagulation parameters and skin biopsy for any infant with multiple congenital vascular papules. Such assessment is mandatory when lesions number in the hundreds. As the authors state, the lymphatic differentiation seen in this entity and in tufted angioma and kaposiform hemangioendothelioma strengthens the association between abnormal lymphatic endothelium and coagulopathy.

— Mary Wu Chang, MD

Published in Journal Watch Dermatology September 14, 2004

Citation(s):

North PE et al. Multifocal lymphangioendotheliomatosis with thrombocytopenia: A newly recognized clinicopathological entity. Arch Dermatol 2004 May; 140:599-606.

• Original article (Subscription may be required)
• Medline abstract (Free)