Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?
Abstract Background Autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis are three rare diseases. Here we present, to the best of our knowledge, the first description of a patient with the coexistence of these...
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doaj-b99b894aa48d42e2a1d14fcc96c0c3352020-11-24T21:55:34ZengBMCBMC Pulmonary Medicine1471-24662017-07-011711410.1186/s12890-017-0447-xLymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?Fabiano Di Marco0Giuseppina Palumbo1Silvia Terraneo2Gianluca Imeri3Elena Lesma4Nicola Sverzellati5Angela Peron6Lorenzo Gualandri7Maria Paola Canevini8Stefano Centanni9Respiratory Unit, Ospedale San Paolo, Department of Health Sciences, Università degli Studi di MilanoRespiratory Unit, Ospedale San Paolo, Department of Health Sciences, Università degli Studi di MilanoRespiratory Unit, Ospedale San Paolo, Department of Health Sciences, Università degli Studi di MilanoRespiratory Unit, Ospedale San Paolo, Department of Health Sciences, Università degli Studi di MilanoLaboratories of Pharmacology, Università degli Studi di MilanoRadiology, Department of Medicine and Surgery, University of ParmaEpilepsy Center, Ospedale San Paolo, Department of Health Sciences, Università degli Studi di Milano ASST Santi Paolo e CarloDermatologic Clinic, Ospedale San Paolo, ASST Santi Paolo e CarloEpilepsy Center, Ospedale San Paolo, Department of Health Sciences, Università degli Studi di Milano ASST Santi Paolo e CarloRespiratory Unit, Ospedale San Paolo, Department of Health Sciences, Università degli Studi di MilanoAbstract Background Autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis are three rare diseases. Here we present, to the best of our knowledge, the first description of a patient with the coexistence of these three diseases. Case presentation A 47-year-old woman affected by LAM-TSC and primary biliary cirrosis/autoimmune hepatitis overlap syndrome. During her follow up a high resolution chest CT scan (HRTC) confirmed the presence of both multiple cysts and micronodular opacities consistent with multifocal micronodular pneumocytes hyperlasia (MMPH), and revealed multiple hilar-mediastinal symmetrical lymphadenopathies suggestive of sarcoidosis. Simultaneously, subcutaneous nodules appeared on her forearm bilaterally. Cutaneous biopsy showed granulomatous dermatitis with sarcoid-like granulomas. A diagnosis of stage I pulmonary sarcoidosis was made. No treatment for sarcoidosis was initiated since the patient had neither systemic involvement, nor respiratory impairment. Conclusions The presence of more than one rare disease should challenge the concept of a potential common underlying mechanism, since the a priori probability of the concomitant presence of different conditions with different pathogenic mechanisms - especially if rare diseases - is low. We speculate that the dysregulation of the pathway involving mTOR and MAPK and their interaction might play a role in the pathogenesis of other diseases, including sarcoidosis.http://link.springer.com/article/10.1186/s12890-017-0447-xLAMTSCSarcoidosisThoracic images |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Fabiano Di Marco Giuseppina Palumbo Silvia Terraneo Gianluca Imeri Elena Lesma Nicola Sverzellati Angela Peron Lorenzo Gualandri Maria Paola Canevini Stefano Centanni |
spellingShingle |
Fabiano Di Marco Giuseppina Palumbo Silvia Terraneo Gianluca Imeri Elena Lesma Nicola Sverzellati Angela Peron Lorenzo Gualandri Maria Paola Canevini Stefano Centanni Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? BMC Pulmonary Medicine LAM TSC Sarcoidosis Thoracic images |
author_facet |
Fabiano Di Marco Giuseppina Palumbo Silvia Terraneo Gianluca Imeri Elena Lesma Nicola Sverzellati Angela Peron Lorenzo Gualandri Maria Paola Canevini Stefano Centanni |
author_sort |
Fabiano Di Marco |
title |
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? |
title_short |
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? |
title_full |
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? |
title_fullStr |
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? |
title_full_unstemmed |
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? |
title_sort |
lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest ct, or a single pathological pathway? |
publisher |
BMC |
series |
BMC Pulmonary Medicine |
issn |
1471-2466 |
publishDate |
2017-07-01 |
description |
Abstract Background Autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis are three rare diseases. Here we present, to the best of our knowledge, the first description of a patient with the coexistence of these three diseases. Case presentation A 47-year-old woman affected by LAM-TSC and primary biliary cirrosis/autoimmune hepatitis overlap syndrome. During her follow up a high resolution chest CT scan (HRTC) confirmed the presence of both multiple cysts and micronodular opacities consistent with multifocal micronodular pneumocytes hyperlasia (MMPH), and revealed multiple hilar-mediastinal symmetrical lymphadenopathies suggestive of sarcoidosis. Simultaneously, subcutaneous nodules appeared on her forearm bilaterally. Cutaneous biopsy showed granulomatous dermatitis with sarcoid-like granulomas. A diagnosis of stage I pulmonary sarcoidosis was made. No treatment for sarcoidosis was initiated since the patient had neither systemic involvement, nor respiratory impairment. Conclusions The presence of more than one rare disease should challenge the concept of a potential common underlying mechanism, since the a priori probability of the concomitant presence of different conditions with different pathogenic mechanisms - especially if rare diseases - is low. We speculate that the dysregulation of the pathway involving mTOR and MAPK and their interaction might play a role in the pathogenesis of other diseases, including sarcoidosis. |
topic |
LAM TSC Sarcoidosis Thoracic images |
url |
http://link.springer.com/article/10.1186/s12890-017-0447-x |
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