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? / DI MARCO, Fabiano; Palumbo, Giuseppina; Terraneo, Silvia; Imeri, Gianluca; Lesma, Elena; Sverzellati, Nicola; Peron, Angela; Gualandri, Lorenzo; Canevini, Maria Paola; Centanni, Stefano. - In: BMC PULMONARY MEDICINE. - ISSN 1471-2466. - 17:1(2017), p. 107. [10.1186/s12890-017-0447-x]

Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: More pathological findings in the same chest CT, or a single pathological pathway?

DI MARCO, FABIANO;Palumbo, Giuseppina;Sverzellati, Nicola;
2017

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.
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: More pathological findings in the same chest CT, or a single pathological pathway? / DI MARCO, Fabiano; Palumbo, Giuseppina; Terraneo, Silvia; Imeri, Gianluca; Lesma, Elena; Sverzellati, Nicola; Peron, Angela; Gualandri, Lorenzo; Canevini, Maria Paola; Centanni, Stefano. - In: BMC PULMONARY MEDICINE. - ISSN 1471-2466. - 17:1(2017), p. 107. [10.1186/s12890-017-0447-x]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2837533
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