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 2Enrique 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/hypophysediabetes insipidus– Retro-orbitalexophtalmos– Retroperitonealhydronephrosis– Lunginterstitial fibrosis– Pericardialheart 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 Erdheim William Chester