Letterer–Siwe disease

Letterer–Siwe disease
Synonyms Acute and disseminated Langerhans cell histiocytosis
This condition is inherited in an autosomal recessive manner
Specialty Oncology Edit this on Wikidata

Letterer–Siwe disease is one of the four recognized clinical syndromes of Langerhans cell histiocytosis (LCH). It causes approximately 10% of LCH disease and is the most severe form.[1] Prevalence is estimated at 1:500,000 and the disease almost exclusively occurs in children less than three years old.[2] The name is derived from the names of Erich Letterer and Sture Siwe.

Clinical Presentation

Letterer-Siwe is characterized by skin lesions, ear drainage, lymphadenopathy, osteolytic lesions, and hepatosplenomegaly. The skin lesions are scaly and may involve the scalp, ear canals, and abdomen.[3]

Cause

Oncogenic mutation of BRAF 50-70% cases

Prognosis

The disease is often rapidly fatal, with a five year survival rate of 50%. The development of thrombocytopenia is a poor prognostic sign.[1]

References

  1. 1 2 "Langerhans Cell Histiocytosis - Hematology and Oncology - Merck Manuals Professional Edition". Merck Manuals Professional Edition. Retrieved 2017-05-19.
  2. ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Letterer Siwe disease". www.orpha.net. Retrieved 2017-05-19.
  3. ↑ "Langerhans cell histiocytosis | DermNet New Zealand". www.dermnetnz.org. Retrieved 2017-05-19.
Classification
External resources


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