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.
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? / F. Di Marco, G. Palumbo, S. Terraneo, G. Imeri, E. Lesma, N. Sverzellati, A. Peron, L. Gualandri, M.P. Canevini, S. Centanni. - In: BMC PULMONARY MEDICINE. - ISSN 1471-2466. - 17:1(2017 Jul 28).
|Titolo:||Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway?|
DI MARCO, FABIANO (Corresponding)
PALUMBO, GIUSEPPINA (Secondo)
CANEVINI, MARIA PAOLA (Penultimo)
CENTANNI, STEFANO (Ultimo)
|Parole Chiave:||LAM; sarcoidosis; thoracic images; TSC; pulmonary and respiratory medicine|
|Settore Scientifico Disciplinare:||Settore MED/10 - Malattie dell'Apparato Respiratorio|
|Data di pubblicazione:||28-lug-2017|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1186/s12890-017-0447-x|
|Appare nelle tipologie:||01 - Articolo su periodico|
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