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Cartagena, Junio 2007

Cartagena, Junio 2007. Enrique Martinez-Barba Eduardo Calonje. Case 1. Clinical history. 72-yr-old man Axillary skin Pruritic hperpigmented, hyperkeratotic patches. Suggested diagnosis. (axillary) granular parakeratosis No further use of deodorants, improvement within 2 weeks. Case 2.

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Cartagena, Junio 2007

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  1. Cartagena, Junio 2007 Enrique Martinez-Barba Eduardo Calonje

  2. Case 1

  3. Clinical history • 72-yr-old man • Axillary skin • Pruritic hperpigmented, hyperkeratotic patches

  4. Suggested diagnosis • (axillary) granular parakeratosis • No further use of deodorants, improvement within 2 weeks

  5. Case 2 Enrique Martínez-Barba Eduardo Calonje

  6. Clinical history • 58-yr-old woman from Westvleteren • Presenting with a palpable skin nodule on the right breast • Mammography/MRI scan: ‘suspicious for malignancy’ Probably the best beer in the world! definitely

  7. Clinical history (2) • At the same time a CT abdomen for vague abdominal complaints was performed • Large (6cm) mass in the small bowel mesentery, extending retroperitoneally • ‘suspicious for lymphoma’

  8. Clinical history (3) • Biopsy from the skin nodule on the breast nodule • Explorative laparascopy with biopsy of the mesenterial mass

  9. Skin breast nodule

  10. Mesenterial mass

  11. S100- CD1a - CD68+ PAS +/- (a few granules) acid-fast stain (Z-N) - Oil-red-O (fat stain) +

  12. Diagnosis? • Clinical/radiological diagnosis: widespread malignancy (carcinoma?), dd lymphoma • Histology: (nonspecific) fibrosis with collections of foamy macrophages, S100 and CD1a – (excluding LCH) • Conclusion: “no diagnosis at this point” • enters Sherlock Holmes.

  13. “The sherlockholmian pathologist”

  14. Review of all available biopsy material over 3 years time • Stomach (cardia) • Colon • Tibia fragments • Skin Breast nodule • Mesenterial mass

  15. Stomach (cardia) cd68

  16. colon cd68

  17. Tibia fragments (bilateral knee prothesis) CD68

  18. Diagnosis? • “Could this be Erdheim-Chester disease (‘lipogranulosis’)?” • Confirm by Rx legs and bone scintigraphy (bilateral metadiaphyseal sclerosis of long bones is pathognomonic of ECD) “elementary, my dear Watson”

  19. Erdheim-Chester disease Bone, mesentery, retroperitoneal, breast, stomach, colon involvement

  20. Erdheim-Chester disease • First described in 1930 by Jacob Erdheim and William Chester • 80 cases have been reported • Histiocytic disorder with lipid-laden macrophages and characteristic bilateral metadiaphyseal involvement of the long bones • Differs from LCH in age distribution, macrophage characteristics (S100 and CD1a -) and type of bone involvement (osteosclerotic lesions of long bones versus osteolytic lesions of the axial skeleton) • Etiology is unknown

  21. Erdheim-Chester disease • Nonosseous disease is frequent • Hypothalamus/hypophysediabetes insipidus • Retro-orbitalexophtalmos • Retroperitonealhydronephrosis • Lunginterstitial fibrosis • Pericardialheart failure

  22. Mild interlobular septal thickening, patchy ground glass opacities Pericardial involvement

  23. ECD prognosis and therapy • Prognosis is related to the extent of the visceral involvement • Most patients die within 2 or 3 years following diagnosis, due to congestive heart failure, lung fibrosis or renal insufficiency • Treatment options include corticosteriods, radiotherapy, chemotherapy and immunotherapy or combination therapy. None have been highly effective and the disease is typically relentless in its course.

  24. Jacob Erdheim William Chester

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