Expert management of LCH, a rare disorder involving abnormal proliferation of Langerhans cells.

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Hematologic Malignancies

Overview

LCH is a rare disorder with variable presentation from isolated bone lesions to multisystem disease. Treatment depends on extent of involvement. Many cases resolve spontaneously, while others require aggressive therapy.

When to Consult

Upon diagnosis of LCH, bone lesions, skin rash, diabetes insipidus, or suspicious biopsy findings.

What to Bring

Biopsy reports, imaging scans (X-ray, CT, MRI, bone scan), blood test results, BRAF mutation testing, and endocrine function tests.

Risk Factors

Age (peak in children 1-3 years, can occur at any age)
Genetic factors (BRAF mutations)
Family history (rare)
Smoking (for pulmonary LCH in adults)
Unknown factors in most cases

Causes

BRAF V600E mutation (found in many cases)
Genetic mutations in MAPK pathway
Abnormal Langerhans cell proliferation
Immune system dysfunction
Environmental triggers
Epigenetic changes
Unknown factors

Treatment Options

Observation

Watchful waiting for isolated, asymptomatic lesions that may resolve spontaneously. Appropriate for single-system, low-risk disease.

Surgery

Curettage or excision for isolated bone lesions. Often curative for single-site disease. May be combined with intralesional steroid injection.

Chemotherapy

Vinblastine plus prednisone for multisystem disease. Standard first-line treatment. May include other agents (methotrexate, 6-mercaptopurine) for high-risk disease.

BRAF Inhibitors

Vemurafenib or dabrafenib for BRAF V600E-mutated LCH. Targeted therapy showing excellent results. Particularly effective for refractory or high-risk disease.

MEK Inhibitors

Trametinib or cobimetinib for MAPK pathway mutations. Alternative targeted therapy option.

Radiation Therapy

Low-dose radiation for isolated lesions not amenable to surgery. Particularly useful for bone lesions in critical locations.

Topical Therapy

Topical steroids or nitrogen mustard for skin-only LCH. Less invasive option for localized disease.

Hormone Replacement

Desmopressin for diabetes insipidus. Hormone replacement for other endocrine deficiencies. Supportive care for organ dysfunction.

Stem Cell Transplantation

Allogeneic stem cell transplant for severe, refractory multisystem disease. Reserved for high-risk cases not responding to standard therapy.

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