Multifocal lymphangioendotheliomatosis

Multifocal lymphangioendotheliomatosis
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Red skin lesions, gastrointestinal bleeding
Complications	Anemia, heart failure
Onset	Infancy
Duration	Chronic
Types	N/A
Causes	Unknown
Risks	N/A
Diagnosis	Clinical evaluation, biopsy
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, medications
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Multifocal lymphangioendotheliomatosis (MLE) is a rare vascular disorder characterized by the presence of multiple red skin lesions and potential internal organ involvement, particularly the gastrointestinal tract. It is primarily observed in infants and young children.

Presentation

Patients with multifocal lymphangioendotheliomatosis typically present with multiple red or purple skin lesions that are often mistaken for hemangiomas. These lesions are usually present at birth or appear shortly thereafter. In addition to cutaneous manifestations, patients may experience gastrointestinal bleeding, which can lead to anemia and other complications.

Pathophysiology

The exact cause of multifocal lymphangioendotheliomatosis is unknown. It is believed to involve abnormal proliferation of lymphatic endothelial cells, leading to the formation of vascular lesions. The condition is not inherited in a simple Mendelian fashion, and no specific genetic mutations have been consistently identified.

Diagnosis

Diagnosis of multifocal lymphangioendotheliomatosis is primarily clinical, based on the characteristic appearance of skin lesions and associated symptoms. A biopsy of the lesions can confirm the diagnosis by revealing the presence of abnormal lymphatic vessels. Imaging studies, such as MRI or CT scan, may be used to assess the extent of internal involvement.

Management

There is no definitive cure for multifocal lymphangioendotheliomatosis. Management is supportive and focuses on controlling symptoms. Treatment options may include:

• Corticosteroids to reduce inflammation
• Beta-blockers such as propranolol to manage vascular lesions
• Blood transfusions for severe anemia
• Endoscopy and other interventions for gastrointestinal bleeding

Prognosis

The prognosis for individuals with multifocal lymphangioendotheliomatosis varies. Some patients may experience spontaneous regression of skin lesions, while others may have persistent or progressive disease. Complications such as severe anemia or heart failure can significantly impact quality of life and overall prognosis.

Also see

• Hemangioma
• Lymphangioma
• Vascular malformation
• Infantile hemangioma

NIH genetic and rare disease info

• NIH info on Multifocal lymphangioendotheliomatosis

Multifocal lymphangioendotheliomatosis is a rare disease.

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