A clinical guide to rare lung disease provides a comprehensive, clinically focused textbook on rare and socalled orphan pulmonary diseases. Erdheimchester disease is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages technically, this disease is termed a nonlangerhanscell histiocytosis. Erdheimchester disease ecd is a rare, nonlangerhans cell histiocytosis of unknown etiology, characterized by multi organ involvement. The fda office of orphan products development determines if a drug qualifies as an orphan product. Combination of xanthelasmaelike lesions and bilateral. Incidental diagnosis of erdheimchester disease in a patient with unusual presentation abstract erdheimchester disease ecd is a rare presentation of nonlang erhans cell histiocytosis, which affects adults that are between 50 and 70 years old. Ecd causes the overproduction of immune cells called histiocytes, which then accumulate in tissues and organs in the body. Xantogranuloma necrobiotico con paraproteinemia asociado a. Lytic and blastic lesions have been associated to malignant tumours, such as solid cancer breast cancer, renal cancer, prostate cancer, malignant melanoma or thyroid tumours.
Although a mixed pattern with lytic and blastic lesions is due to metastatic tumour, this is not the only possible origin. Corneal involvement due to erdheimchester disease revista. Erdheimchester disease ecd is a rare, nonlangerhans histiocytosis. Jun 20, 2010 to retrospectively assess the association of mediastinal, cardiovascular and pleuropulmonary findings on chest ct of 40 patients with immunohistochemically and histologically proven erdheim chester disease ecd. This case report shows the number of tests that were made. Erdheimchester disease ecd is a rare form of nonlangerhans cell histiocytosis characterised by multi organ. Aug 06, 2018 erdheim chester disease ecd is a rare condition that can affect many parts of the body. Multiple bone lesions resembling a metastatic origin. Neurological manifestations in erdheimchester disease. Thirtyfour 85% patients had periaortic infiltration that. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Erdheimchester disease genetic and rare diseases information. The disease can also affect other organs, with severe systemic. Cerebral, facial, and orbital involvement in erdheimchester. The orphan drug act was passed in 1983 to give drug companies incentives to develop treatments for rare diseases. Erdheimchester disease is a xanthogranulomatosis that can affect ocular and periorbital structures. The hypothalamicpituitary axis was involved in 16 53% of the 30 patients, with six 20% cases of micronodular or nodular masses of the infundibular stalk. Spontaneous bilateral pneumothoraces in erdheimchester. The disease can also affect other organs, with severe systemic manifestations. Erdheim chester disease ecd is a rare condition that can affect many parts of the body. Erdheimchester disease is a nonlangerhans cell histiocytosis of uncertain origin. Gard has information from the food and drug administration fda on treatments approved for rare diseases, known as orphan productsdrugs. Radiopaedia is a rapidly growing openedit educational radiology resource which has been primarily compiled by radiologists and radiology trainees from across the world.
The book is oriented towards the diagnostic approach, including manifestations suggesting the disease, diagnostic criteria, methods of. Adult xanthogranulomatous disease of the orbit axdo comprises a heterogeneous group of uncommon diseases that share cutaneous manifestations and histopathology findings. Langerhans cell histiocytosis and erdheimchester disease. Erdheimchester disease ecd is a rare condition that can affect many parts of the body. Parts of the body that may be involved include the long bones, retroperitoneum, skin, eyes and eyelids, lungs.
Montserrat juanos iborra, albert selva ocallaghan, xavier solanich moreno, antonio vidaller palacin, salvador marti, josep maria grau junyent, miquel vilardell tarres. Signos neuroradiologicos clasicos en tc y rm craneal. Erdheim chester disease ecd is a rare, systemic, nonlangerhans cell histiocytosis. Erdheimchester disease in a sinonasal location acta. Orphan lung diseases a clinical guide to rare lung. Cerebral, facial, and orbital involvement in erdheim.
Consensus guidelines for the diagnosis and clinical management of. List of fda orphan drugs genetic and rare diseases. Erdheimchester disease ecd is a rare, nonlangerhans cell histiocytosis of unknown etiology, characterized by multiorgan involvement. Thirty patients had intracranial, facial bone, andor orbital involvement, and three had normal neurologic imaging findings. Enfermedad xantogranulomatosa orbitaria del adulto. Files are available under licenses specified on their description page.
To retrospectively assess the association of mediastinal, cardiovascular and pleuropulmonary findings on chest ct of 40 patients with immunohistochemically and histologically proven erdheimchester disease ecd. Our mission is to create the best radiology reference, and to make it available for free, forever. Recent findings suggest that ecd is a clonal disorder, marked by recurrent. A biopsy of the pituitary gland may be indicated when the pituitary gland is the only site of disease and the stalk is greater than 6. Erdheimchester disease ecd is a rare condition that can affect many parts. All structured data from the file and property namespaces is available under the creative commons cc0 license. It was declared a histiocytic neoplasm by the world health organization in 2016.
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