Letterer–Siwe disease
| Letterer–Siwe disease | |
|---|---|
| Classification and external resources | |
| ICD-10 | C96.0 |
| ICD-9 | 202.5 |
| OMIM | 246400 |
| DiseasesDB | 5906 |
| MeSH | D006646 |
Letterer–Siwe disease is a genetic disorder considered to be a type of histiocytosis[1] (a condition where histiocytes proliferate in the body). It is sometimes classified as a form of Langerhans cell histiocytosis,[2] or as a form of histiocytosis X.[3] It is most commonly seen in children less than two years old. The disorder is believed to be inherited in an autosomal recessive pattern.[4]
It is named for Erich Letterer and Sture Siwe.[5][6][7]
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[edit] Signs and symptoms
Symptoms include lymphadenopathy, hepatosplenomegaly, and seborrhea-like lesions on the skin.
[edit] Genetics
Letterer–Siwe disease is inherited in an autosomal recessive manner.[4] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
[edit] Prognosis
Untreated, the disease is fatal. The five-year survival rate with treatment is fifty percent.
[edit] See also
[edit] References
- ^ Zhou HM, Zeng X, Chen QM (October 2007). "[Clinical and pathologic features of Letterer-Siwe disease: a case report and review]" (in Chinese). Hua Xi Kou Qiang Yi Xue Za Zhi 25 (5): 517–9. PMID 18072575.
- ^ Kobayashi M, Yamamoto O, Suenaga Y, Asahi M (July 2000). "Electron microscopic study of Langerhans cell histiocytosis". J. Dermatol. 27 (7): 453–7. PMID 10935343.
- ^ Novice FM, Collison DW, Kleinsmith DM, Osband ME, Burdakin JH, Coskey RJ (January 1989). "Letterer-Siwe disease in adults". Cancer 63 (1): 166–74. doi:10.1002/1097-0142(19890101)63:1<166::AID-CNCR2820630127>3.0.CO;2-A. PMID 2642729.
- ^ a b Freundlich, E.; Amit, S.; Montag, Y.; Suprun, H.; Nevo, S. (February 1972). "Familial Occurrence of Letterer-Siwe Disease" (Free full text). Archives of disease in childhood 47 (251): 122–125. doi:10.1136/adc.47.251.122. PMC 1647995. PMID 5018627. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1647995.
- ^ synd/1648 at Who Named It?
- ^ E. Letterer. Aleukämische Retikulose. (Ein Beitrag zu den proliferativen Erkrankungen des Retikuloendothelialen Apparates). Frankfurter Zeitschrift für Pathologie, 1924, 30: 377-394.
- ^ S. A. Siwe. Die Retikuloendotheliose, ein neues Krankheitsbild unter den Hepatosplenomegalien. Zeitschrift für Kinderheilkunde, Berlin; 1933, 55: 212-247.
[edit] External links
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