Chronic multifocal Langerhans cell histiocytosis

Chronic multifocal Langerhans cell histiocytosis
Other namesHand–Schüller–Christian disease
A child with Hand-Schüller-Christian Disease
SpecialtyDermatology
Symptoms
Usual onsetAge 2-6[2]
CausesGenetic mutation in the MAPKinase pathway[1]
Diagnostic methodMRI, Tissue biopsy
TreatmentSurgery, chemotherapy, radiation therapy
PrognosisVariable
FrequencyRare

Chronic multifocal Langerhans cell histiocytosis, previously known as Hand–Schüller–Christian disease,[3][4] is a type of Langerhans cell histiocytosis (LCH), which can affect multiple organs.[1][5][6] The condition is traditionally associated with a combination of three features; bulging eyes, breakdown of bone (lytic bone lesions often in the skull), and diabetes insipidus (excessive thirst and passing urine), although around 75% of cases do not have all three features.[5] Other features may include a fever and weight loss, and depending on the organs involved there may be rashes, asymmetry of the face, ear infections, signs in the mouth and the appearance of advanced gum disease. Features relating to lung and liver disease may occur.[1][5]

It is due to a genetic mutation in the MAPKinase pathway that occurs during early development.[1] The diagnosis may be suspected based on symptoms and MRI and confirmed by tissue biopsy.[6][7] Blood tests may show anaemia, and less commonly a low white blood cell count and low platelet count.[5]

Treatment may involve surgery, chemotherapy, radiation therapy, and certain medicines.[7]

Hand–Schüller–Christian disease was named for the American pediatrician Alfred Hand Jr., the Austrian neuroradiologist Arthur Schüller, and the American internist Henry Asbury Christian, who described it in 1893, 1915 and 1919, respectively.[8] Before the Histiocyte Society classified histiocytoses in the 1980s, the condition was also known as "Histiocytosis X", where "X" denoted the then unknown cause.[9][10][11] It is now known as chronic multifocal Langerhans cell histiocytosis, a subtype of LCH.[3]

The disease is rare.[12] Most present between the ages of two and six.[2] The outlook depends on how many and how much organs are affected.[7] In some people the condition is life-threatening.[7]

  1. ^ a b c d e f "Langerhans Cell Histiocytosis". NORD (National Organization for Rare Disorders). Retrieved 5 December 2020.
  2. ^ a b c Cite error: The named reference DermnetNZ2005 was invoked but never defined (see the help page).
  3. ^ a b "Orphanet: OBSOLETE: Hand Schüller Christian disease". www.orpha.net. Retrieved 5 December 2020.
  4. ^ Odell, Edward W (2017). "12. Non-odontogenic tumours of the jaw". Cawson's Essentials of Oral Pathology and Oral Medicine E-Book (9th ed.). Elsevier. p. 190. ISBN 978-0-7020-4982-8.
  5. ^ a b c d Rajendran, R. (2009). "17. Diseases of bone and joint (non-neoplastic and non-infectious disorders of bone, skeletal dysplasias/dysostoses, constitutional bone disorders)". In Rajendran, R.; Sivapathasundharan, B. (eds.). Shafer's Textbook of Oral Pathology (6th ed.). Elsevier. p. 744. ISBN 978-81-312-1570-8.
  6. ^ a b "Hand-Schüller-Christian Disease | American Journal of Neuroradiology". www.ajnr.org. Retrieved 2 December 2020.
  7. ^ a b c d "Langerhans cell histiocytosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 5 December 2020. Updated 2017
  8. ^ Pluot, Etienne; Davies, Mark; James, Steven L. J. (2009). "Who was who in bone tumours". In Davies, A. Mark; Sundaram, Murali; James, Steven J. (eds.). Imaging of Bone Tumors and Tumor-Like Lesions: Techniques and Applications. Springer. p. 681. ISBN 978-3-540-77982-7.
  9. ^ Cite error: The named reference PickeringDoyle1981 was invoked but never defined (see the help page).
  10. ^ Cite error: The named reference Broadbent was invoked but never defined (see the help page).
  11. ^ The Writing Group of the Histiocyte Society (1987). "Histiocytosis syndromes in children. Writing Group of the Histiocyte Society". Lancet. 1 (8526): 208–9. doi:10.1016/S0140-6736(87)90016-X. PMID 2880029. S2CID 54351490.
  12. ^ Cite error: The named reference Ansell2007 was invoked but never defined (see the help page).
This article is issued from Wikipedia. The text is available under Creative Commons Attribution-Share Alike 4.0 unless otherwise noted. Additional terms may apply for the media files.