1 / 35

Complex Clinical Cases: Diagnosing Granular Parakeratosis and Erdheim-Chester Disease

This document presents two intricate clinical cases observed by Enrique Martínez-Barba and Eduardo Calonje. The first case involves a 72-year-old man with axillary granular parakeratosis, exhibiting hyperpigmented, pruritic patches, which improved after discontinuing deodorant use. The second case outlines a 58-year-old woman's struggle with a suspicious breast nodule and a 6 cm mesenteric mass likely associated with widespread malignancy or Erdheim-Chester disease. Notably, the document emphasizes the diagnostic challenges and clinical significance of recognizing rare histiocytic disorders.

eli
Télécharger la présentation

Complex Clinical Cases: Diagnosing Granular Parakeratosis and Erdheim-Chester Disease

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related