Letterer–Siwe disease

Autosomal recessive - en

Letterer–Siwe disease is a severe form of Langerhans cell histiocytosis (LCH), a rare disorder characterized by the proliferation of Langerhans cells, which are a type of dendritic cell that normally helps regulate the immune system. This disease primarily affects infants and very young children.

Presentation

Letterer–Siwe disease typically presents in children under the age of 2. The symptoms can be quite varied but often include:

• Fever
• Skin rash
• Hepatosplenomegaly (enlarged liver and spleen)
• Lymphadenopathy (swollen lymph nodes)
• Anemia
• Thrombocytopenia (low platelet count)
• Bone lesions

Pathophysiology

The exact cause of Letterer–Siwe disease is not well understood. It involves the abnormal proliferation of Langerhans cells, which can infiltrate various organs and tissues, leading to the symptoms observed. The disease can affect multiple systems, including the skin, bone marrow, liver, spleen, and lymph nodes.

Diagnosis

Diagnosis is typically made through a combination of clinical presentation, imaging studies, and biopsy of affected tissues. The biopsy will show the presence of Langerhans cells, which can be identified by their characteristic appearance and by specific markers such as CD1a and S100 protein.

Treatment

Treatment options for Letterer–Siwe disease may include:

• Chemotherapy
• Corticosteroids
• Immunotherapy
• Bone marrow transplantation

The choice of treatment depends on the severity and extent of the disease. Early diagnosis and treatment are crucial for improving the prognosis.

Prognosis

The prognosis for Letterer–Siwe disease varies. Without treatment, the disease can be rapidly fatal. With appropriate therapy, some children can achieve remission, although long-term follow-up is necessary due to the risk of recurrence and potential long-term complications.

Related Pages

• Langerhans cell histiocytosis
• Histiocytosis
• Dendritic cell
• Bone marrow transplantation
• Chemotherapy