Chronic multifocal Langerhans cell histiocytosis: Difference between revisions
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Blood tests may show [[anaemia]], and less commonly a [[leucopenia|low white blood cell count]] and [[thrombocytopenia|low platelet count]].<ref name="Rajendran2009"/> Although the disease lesions have a high cholesterol content, the [[serum cholesterol|blood cholesterol]] is usually normal.<ref name="Rajendran2009"/><ref name=Schuknecht1948>{{Cite journal|last=Schuknecht|first=Harold F.|last2=Perlman|first2=Henry B.|date=1 September 1948|title=LVI Hand-Schüller-Christian Disease and Eosinophilic Granuloma of the Skull|url=https://doi.org/10.1177/000348944805700305|journal=Annals of Otology, Rhinology & Laryngology|language=en|volume=57|issue=3|pages=643–676|doi=10.1177/000348944805700305|issn=0003-4894}}</ref> Diagnosis is confirmed by [[bone biopsy]].<ref name=AJNR/> |
Blood tests may show [[anaemia]], and less commonly a [[leucopenia|low white blood cell count]] and [[thrombocytopenia|low platelet count]].<ref name="Rajendran2009"/> Although the disease lesions have a high cholesterol content, the [[serum cholesterol|blood cholesterol]] is usually normal.<ref name="Rajendran2009"/><ref name=Schuknecht1948>{{Cite journal|last=Schuknecht|first=Harold F.|last2=Perlman|first2=Henry B.|date=1 September 1948|title=LVI Hand-Schüller-Christian Disease and Eosinophilic Granuloma of the Skull|url=https://doi.org/10.1177/000348944805700305|journal=Annals of Otology, Rhinology & Laryngology|language=en|volume=57|issue=3|pages=643–676|doi=10.1177/000348944805700305|issn=0003-4894}}</ref> Diagnosis is confirmed by [[bone biopsy]].<ref name=AJNR/> |
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==History== |
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Hand–Schüller–Christian disease is named for the American pediatrician [[Alfred Hand Jr.]],<ref name=TumourImaging/><ref>{{Cite web | url=http://www.whonamedit.com/doctor.cfm/590.html | title=Alfred Hand Jr}}</ref> the Austrian neuroradiologist [[Arthur Schüller]],<ref name=TumourImaging/><ref name="Schindler1997">{{Cite journal|last=Schindler|first=E.|date=August 1997|title=Arthur Schüller: pioneer of neuroradiology|url=https://pubmed.ncbi.nlm.nih.gov/9282858/|journal=AJNR. American journal of neuroradiology|volume=18|issue=7|pages=1297–1302|issn=0195-6108|pmid=9282858|via=}}</ref> and the American internist [[Henry Asbury Christian]],<ref name=TumourImaging/><ref name=Christian1951>{{Cite journal|last=|first=|date=6 December 1951|title=Obituary; Henry Asbury Christian|url=https://doi.org/10.1056/NEJM195112062452312|journal=New England Journal of Medicine|volume=245|issue=23|pages=912–913|doi=10.1056/NEJM195112062452312|issn=0028-4793|pmid=14882449|via=}}</ref> who described it in 1893,<ref name="TumourImaging" /><ref>A. Hand. Polyuria and tuberculosis. Proceedings of the Pathological Society of Philadelphia, 1893, 16: 282-284. Archives of Pediatrics, New York, 1893: 10: 673-675.</ref> 1915<ref name=TumourImaging/><ref>Schüller, Arthur (1915). Über eigenartige Schädeldefekte im Jugendalter, Fortschr. a. d. Geb. d. Röentgenstrahlen 23: 12–18.</ref> and 1919, respectively.<ref name=TumourImaging/><ref>H. Christian. Defects in membranous bones, exophthalmos, and diabetes insipidus; an unusual syndrome of dyspituitarism. In: Contributions to medical and biological research, dedicated to Sir William Osler. New York, P. B. Hoeber, 1919, 1: 390-401. Medical Clinics of North America, Philadelphia, PA., 1920; 3: 849-871.</ref> |
Hand–Schüller–Christian disease is named for the American pediatrician [[Alfred Hand Jr.]],<ref name=TumourImaging/><ref>{{Cite web | url=http://www.whonamedit.com/doctor.cfm/590.html | title=Alfred Hand Jr}}</ref> the Austrian neuroradiologist [[Arthur Schüller]],<ref name=TumourImaging/><ref name="Schindler1997">{{Cite journal|last=Schindler|first=E.|date=August 1997|title=Arthur Schüller: pioneer of neuroradiology|url=https://pubmed.ncbi.nlm.nih.gov/9282858/|journal=AJNR. American journal of neuroradiology|volume=18|issue=7|pages=1297–1302|issn=0195-6108|pmid=9282858|via=}}</ref> and the American internist [[Henry Asbury Christian]],<ref name=TumourImaging/><ref name=Christian1951>{{Cite journal|last=|first=|date=6 December 1951|title=Obituary; Henry Asbury Christian|url=https://doi.org/10.1056/NEJM195112062452312|journal=New England Journal of Medicine|volume=245|issue=23|pages=912–913|doi=10.1056/NEJM195112062452312|issn=0028-4793|pmid=14882449|via=}}</ref> who described it in 1893,<ref name="TumourImaging" /><ref>A. Hand. Polyuria and tuberculosis. Proceedings of the Pathological Society of Philadelphia, 1893, 16: 282-284. Archives of Pediatrics, New York, 1893: 10: 673-675.</ref> 1915<ref name=TumourImaging/><ref>Schüller, Arthur (1915). Über eigenartige Schädeldefekte im Jugendalter, Fortschr. a. d. Geb. d. Röentgenstrahlen 23: 12–18.</ref> and 1919, respectively.<ref name=TumourImaging/><ref>H. Christian. Defects in membranous bones, exophthalmos, and diabetes insipidus; an unusual syndrome of dyspituitarism. In: Contributions to medical and biological research, dedicated to Sir William Osler. New York, P. B. Hoeber, 1919, 1: 390-401. Medical Clinics of North America, Philadelphia, PA., 1920; 3: 849-871.</ref> Reports of a similar disease followed and later this became known as the Hand–Schüller–Christian disease. Shortly afterwards, Letterer in 1924 and Siwe in 1933 described a fatal condition in children who presented with [[hepatosplenomegaly|large livers and spleens]], [[lymphadenopathy|large lymph nodes]] and bone damage. In 1940, [[Louis Litchtenstein]] and Jaffe described a self-limiting disease characterised by "isolated bone lesions".<ref name="PickeringDoyle2012">{{cite book|author1=C.A.C. Pickering|first=|url=https://books.google.com/books?id=-6VDBQAAQBAJ&pg=PA82|title=Interstitial Lung Disease|author2=L. Doyle|author3=K.B. Carroll|date=1981|publisher=MTP Press|year=|isbn=978-94-009-8086-0|location=|page=83-85|pages=|chapter=4. Honeycomb lung}}</ref> A common feature of all these conditions was revealed to be the histological findings of large numbers of [[histiocytes]] in the [[tissue biopsy|tissue biopsies]], leading Litchtenstein to propose that the three described conditions were part of a spectrum of a disease he named "Histiocytosis X", where "X" denoted the unknown cause.<ref name="PickeringDoyle2012"/> |
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A [[mummy]] investigated in 2012 with [[CT scan]] and MRI was thought to have originated in 900-790. B.C and suffered from the condition.<ref>{{Cite journal|last=Cavka|first=Mislav|last2=Petaros|first2=Anja|last3=Ivanac|first3=Gordana|last4=Aganović|first4=Lejla|last5=Janković|first5=Ivor|last6=Reiter|first6=Gert|last7=Speier|first7=Peter|last8=Nielles-Vallespin|first8=Sonja|last9=Brkljacić|first9=Boris|date=March 2012|title=A probable case of Hand-Schueller-Christian's disease in an Egyptian mummy revealed by CT and MR investigation of a dry mummy|url=https://pubmed.ncbi.nlm.nih.gov/22816232/|journal=Collegium Antropologicum|volume=36|issue=1|pages=281–286|issn=0350-6134|pmid=22816232|via=}}</ref> |
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==See also== |
==See also== |
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Revision as of 09:04, 4 December 2020
| Hand–Schüller–Christian disease | |
|---|---|
 | |
| A child with Hand-Schüller-Christian Disease | |
| Specialty | Dermatology |
| Symptoms |
|
| Usual onset | Usually before age five |
| Diagnostic method | MRI, Bone biopsy |
Hand–Schüller–Christian disease is part of a spectrum of disorders known as the "Langerhans cell histiocytosis".[1][2]
The condition is usually 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.[1]
Tests usually include imaging using MRI.[2] Blood tests may show anaemia, and less commonly a low white blood cell count and low platelet count.[1]
It is 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.[3]
Signs and symptoms
A combination of three features are seen in 25% of people with the condition, which usually presents before the age of five; one or both bulging eyes, breakdown of bone (lytic bone lesions often in the skull in a 'punched out' pattern), and diabetes insipidus (excessive thirst and passing urine).[1]
The face may look asymmetrical and ear infections are common.[1] Between 5 and 75% of cases have been reported to present with signs in the mouth.[1] These include mouth ulcers, bad breath, swollen gums, loose teeth and an unpleasant taste.[1] Destruction of part of the jaw bone may give the appearance of advanced gum disease.[1]
Diagnostics
Tests usually include imaging using MRI.[2] Findings include breakdown of bone and thickening of the pituitary stalk. The perivascular space may appear prominent, the pituitary gland cystic and there may be signs in the white matter, a mass in the hypothalamus and enhancement of the meninges.[2]
X-ray findings typically demonstrate sharp "punched out" lesions in the skull. The destruction of alveolar bone is usually more generalised and may appear as displaced teeth.[1]
Blood tests may show anaemia, and less commonly a low white blood cell count and low platelet count.[1] Although the disease lesions have a high cholesterol content, the blood cholesterol is usually normal.[1][4] Diagnosis is confirmed by bone biopsy.[2]
History
Hand–Schüller–Christian disease is named for the American pediatrician Alfred Hand Jr.,[3][5] the Austrian neuroradiologist Arthur Schüller,[3][6] and the American internist Henry Asbury Christian,[3][7] who described it in 1893,[3][8] 1915[3][9] and 1919, respectively.[3][10] Reports of a similar disease followed and later this became known as the Hand–Schüller–Christian disease. Shortly afterwards, Letterer in 1924 and Siwe in 1933 described a fatal condition in children who presented with large livers and spleens, large lymph nodes and bone damage. In 1940, Louis Litchtenstein and Jaffe described a self-limiting disease characterised by "isolated bone lesions".[11] A common feature of all these conditions was revealed to be the histological findings of large numbers of histiocytes in the tissue biopsies, leading Litchtenstein to propose that the three described conditions were part of a spectrum of a disease he named "Histiocytosis X", where "X" denoted the unknown cause.[11]
A mummy investigated in 2012 with CT scan and MRI was thought to have originated in 900-790. B.C and suffered from the condition.[12]
See also
References
- ^ a b c d e f g h i j k 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.
- ^ a b c d e "Hand-Schüller-Christian Disease | American Journal of Neuroradiology". www.ajnr.org. Retrieved 2 December 2020.
{{cite web}}: CS1 maint: url-status (link) - ^ a b c d e f g 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.
- ^ Schuknecht, Harold F.; Perlman, Henry B. (1 September 1948). "LVI Hand-Schüller-Christian Disease and Eosinophilic Granuloma of the Skull". Annals of Otology, Rhinology & Laryngology. 57 (3): 643–676. doi:10.1177/000348944805700305. ISSN 0003-4894.
- ^ "Alfred Hand Jr".
- ^ Schindler, E. (August 1997). "Arthur Schüller: pioneer of neuroradiology". AJNR. American journal of neuroradiology. 18 (7): 1297–1302. ISSN 0195-6108. PMID 9282858.
- ^ "Obituary; Henry Asbury Christian". New England Journal of Medicine. 245 (23): 912–913. 6 December 1951. doi:10.1056/NEJM195112062452312. ISSN 0028-4793. PMID 14882449.
- ^ A. Hand. Polyuria and tuberculosis. Proceedings of the Pathological Society of Philadelphia, 1893, 16: 282-284. Archives of Pediatrics, New York, 1893: 10: 673-675.
- ^ Schüller, Arthur (1915). Über eigenartige Schädeldefekte im Jugendalter, Fortschr. a. d. Geb. d. Röentgenstrahlen 23: 12–18.
- ^ H. Christian. Defects in membranous bones, exophthalmos, and diabetes insipidus; an unusual syndrome of dyspituitarism. In: Contributions to medical and biological research, dedicated to Sir William Osler. New York, P. B. Hoeber, 1919, 1: 390-401. Medical Clinics of North America, Philadelphia, PA., 1920; 3: 849-871.
- ^ a b C.A.C. Pickering; L. Doyle; K.B. Carroll (1981). "4. Honeycomb lung". Interstitial Lung Disease. MTP Press. p. 83-85. ISBN 978-94-009-8086-0.
- ^ Cavka, Mislav; Petaros, Anja; Ivanac, Gordana; Aganović, Lejla; Janković, Ivor; Reiter, Gert; Speier, Peter; Nielles-Vallespin, Sonja; Brkljacić, Boris (March 2012). "A probable case of Hand-Schueller-Christian's disease in an Egyptian mummy revealed by CT and MR investigation of a dry mummy". Collegium Antropologicum. 36 (1): 281–286. ISSN 0350-6134. PMID 22816232.