Cartagena, Junio 2007 Enrique Martinez-Barba Eduardo Calonje.

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Presentation transcript:

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 Enrique Martínez-Barba Eduardo Calonje

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

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’

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

Skin breast nodule

Mesenterial mass

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

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.

“The sherlockholmian pathologist”

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

cd68 Stomach (cardia)

colon cd68

Tibia fragments (bilateral knee prothesis) CD68

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”

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

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

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

Mild interlobular septal thickening, patchy ground glass opacities Pericardial involvement

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.

Jacob ErdheimWilliam Chester