Multifocal Micronodular Pneumocyte Hyperplasia with Tuberous Sclerosis

Taniguchi, Hirokazu; Abo, Hitoshi; Uchiyama, Akio; Noto, Hirofumi

doi:10.2169/internalmedicine.55.6040

Cited by 4 publications

(8 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The imaging findings of our two patients showed randomly distributed multiple nodules with small granular shadows. Some reports have described these findings as existing predominantly in the peripheral and upper lobes [4,5], but our investigation of 24 cases revealed no clear trend. The radiological findings of MMPH usually mimic miliary tuberculosis, primary or metastatic lung cancer, atypical adenomatous hyperplasia (AAH) and adenocarcinoma in situ (AIS).…”

Section: Discussioncontrasting

confidence: 72%

“…Nodular opacities adopt one of two patterns: sporadically distributed nodules 3-10 mm in diameter; and multiple distributions of small granular shadows 1-3 mm in diameter. Both patterns are well-circumscribed [3][4][5]17]. The imaging findings of our two patients showed randomly distributed multiple nodules with small granular shadows.…”

Section: Discussionmentioning

confidence: 76%

“…The radiological findings of MMPH usually mimic miliary tuberculosis, primary or metastatic lung cancer, atypical adenomatous hyperplasia (AAH) and adenocarcinoma in situ (AIS). Pathologically, MMPH shows clearly defined nodular lesions with fibrous thickening of the alveolar walls and a single layer of slightly enlarged type II pneumocytes on the alveolar surface without atypical changes or any destruction of the alveolar structure [4,5].…”

Section: Discussionmentioning

confidence: 99%

“…MMPH is pathologically characterized by multifocal nodular hyperplasia of type II pneumocyte-like cells, and, similar to pulmonary lymphangioleiomyomatosis (LAM), it is usually complicated with tuberous sclerosis complex (TSC). Relatively few cases of MMPH have been reported thus far, and this disease may be under-recognized and misdiagnosed [2][3][4][5].…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Two Cases of Tuberous Sclerosis Complex Suggestive of Complicating Multifocal Micronodular Pneumocyte Hyperplasia: A Case Report

Nishida

Yatera

Kido

et al. 2017

J UOEH

View full text Add to dashboard Cite

Multifocal micronodular pneumocyte hyperplasia (MMPH) is pathologically characterized by multifocal nodular hyperplasia of type Ⅱ pneumocyte-like cells. MMPH is usually complicated with tuberous sclerosis complex (TSC). MMPH patients tend to be asymptomatic or only slightly symptomatic. MMPH tends to progress slowly and needs no treatment. We herein describe two cases of MMPH with its characteristic radiological features and clinical manifestations of TSC. Case 1: a 20-year-old female with definitive TSC in infancy. Chest CT at the age of 18 revealed multiple nodular opacities and ground-glass attenuations in a scattered and random distribution in the bilateral lungs. Case 2: a 44-year-old female with probable TSC at 36 years of age. Chest CT at the age of 43 showed random areas of small ground-glass attenuations, predominantly in the upper lung fields. Case 1 and Case 2 have had no respiratory symptoms or radiographic changes in the recent two years and four years, respectively. Although pathological examinations of the lung were not performed because consent for surgical lung biospies was unobtainable, we considered that these pulmonary manifestations were most likely MMPH with TSC because of these characteristic radiographical findings of multiple nodular opacities and ground-glass attenuations of 10 mm or less in size and their scattered distribution, and because there have been no abnormal laboratory data or changes in their chest radiological findings for years. Neither patient is under treatment for pulmonary lesions. Although MMPH is a rare disease, multiple nodules and ground-glass attenuations on lung imaging findings should be considered as pulmonary manifestations in patients with TSC.

show abstract

Section: Discussioncontrasting

confidence: 72%

Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Two Cases of Tuberous Sclerosis Complex Suggestive of Complicating Multifocal Micronodular Pneumocyte Hyperplasia: A Case Report

Nishida

Yatera

Kido

et al. 2017

J UOEH

View full text Add to dashboard Cite

show abstract

“…Although the patient had small (roughly 2 cm × 2 cm) hypomelanotic macules on her left thigh, left upper arm, and epigastrium, other clinical findings suggestive of TSC were not reported. We previously reported this woman as an MMPH patient without diagnosis of TSC [25] (ref. in Japanese).…”

Section: Resultsmentioning

confidence: 99%

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family

et al. 2019

View full text Add to dashboard Cite

Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary disease, generally manifesting as a tuberous sclerosis complex (TSC), characterised by multiple, small ground-glass nodular shadows on chest computed tomography (CT). Histological examination typically reveals multicentric, well-demarcated, nodular type II pneumocystic growth. Herein, we describe three cases of this rare pulmonary disease occurring within one family. Using reverse transcription polymerase chain reaction (RT-PCR) and direct DNA sequencing, we identified a novel germline mutation, a point mutation in TSC1 intron 5, which yielded a splice variant and loss of function of TSC1 . Furthermore, immunohistochemical staining indicated the expression of phospho-p70S6K and phospho-4E-BP1, suggesting that TSC1 function was impaired by the novel gene mutation in MMPH cells.

show abstract

Thoracoabdominal imaging of tuberous sclerosis

Morin

Franz

et al. 2018

Pediatr Radiol

View full text Add to dashboard Cite

Imaging of tuberous sclerosis complex has rapidly evolved over the last decade in association with increased understanding of the disease process and new treatment modalities. Tuberous sclerosis complex is best known for the neurological symptoms and the associated neuroimaging findings, and children with tuberous sclerosis complex require active surveillance of associated abnormalities in the chest, abdomen and pelvis. Common findings that require regular imaging surveillance are angiomyolipomas in the kidneys and lymphangioleiomyomatosis in the chest. However multiple rarer associations have been attributed to tuberous sclerosis complex and should be considered by radiologists reviewing any imaging in these children. In this review the authors discuss the spectrum of imaging findings in people with tuberous sclerosis complex, focusing on MR imaging findings in the chest, abdomen and pelvis.

show abstract

Multifocal Micronodular Pneumocyte Hyperplasia with Tuberous Sclerosis

Cited by 4 publications

References 2 publications

Two Cases of Tuberous Sclerosis Complex Suggestive of Complicating Multifocal Micronodular Pneumocyte Hyperplasia: A Case Report

Two Cases of Tuberous Sclerosis Complex Suggestive of Complicating Multifocal Micronodular Pneumocyte Hyperplasia: A Case Report

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family

Thoracoabdominal imaging of tuberous sclerosis

Contact Info

Product

Resources

About