Chest
Interstitial Pulmonary Fibrosis and von Recklinghausen’s Disease. An Ultrastructural and Immunofluorescent Study
Section snippets
Case Report
A 28-year-old white woman was admitted for the first time to Thomas Jefferson University Hospital on Sept 11, 1972, because of dyspnea and abnormal findings on a chest roentgenogram. Her mother had von Recklinghausen’s disease. Since childhood the patient had had numerous cutaneous neurofibromas and cafe au lait spots, which increased in size and number over the past five to eight years. A seizure disorder classified as either psychomotor or grand mal epilepsy had been present for 12 years, for
Discussion
This patient had signs of von Recklinghausen’s disease since childhood, with pulmonary symptoms characterized by shortness of breath and severe diffusion impairment at age 28. The coexistence of von Recklinghausen’s disease and pulmonary fibrosis has been reported in patients ranging from 34 to 70 years of age, with a median of 46 years.1, 2, 3, 4, 5, 6 The physiologic abnormalities exhibited in this case were otherwise similar to previous reports. Most cases have shown diffuse, bilateral
ACKNOWLEDGMENT
We wish to thank Miss Geraldine Moore for her secretarial assistance.
References (22)
- et al.
Von Recklinghausen’s neurofibromatosis associated with cystic lung disease
Am J Med
(1965) - et al.
The association of hemidesmo-some-like plaque and dense coating with the pinocytotic uptake of a heterologous fibrillar protein (amyloid) by macrophages
J Ultrastruct Res
(1970) - et al.
Familial Hamman-Rich syndrome. Report of eight cases
Chest
(1969) - et al.
Diffuse interstitial pulmonary fibrosis in a mother and son with von Recklinghausen’s disease
Thorax
(1965) - et al.
Fibrosing alveolitis: Its occurrence, roentgenographic and pathologic features in von Recklinghausen’s neurofibromatosis
Am Rev Resp Dis
(1966) - et al.
Fibrose interstitielle diffuse et scléro-emphyséme au cours des phacomatoses
Lyon Med
(1967) - et al.
Pneumonie desquamative interstitielle et phacomatose pulmonaire
J Fr Med Clin Thorac
(1971) Neurofibromatosis with diffuse interstitial pulmonary fibrosis and phaeochromocytoma
Br J Radiol
(1967)Fluorescent Antibody Methods
(1968)- et al.
Multiple neurofibromatosis
(1956)
Drug-induced lupus syndromes
Mayo Clin Proc
Cited by (27)
Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement
2019, Respiratory MedicineCitation Excerpt :This combination has been considered to be the hallmark of NF-1, although it is not pathognomonic of the disease [24]. Although NF-1 is congenital, pulmonary fibrosis and neurofibromatosis-associated diffuse lung disease (NF-DLD) are traditionally not evident before the patient reaches adulthood, typically appearing in the third or fourth decade of life [12,25]. Chest CT rarely reveals the typical honeycombing pattern representative of advanced-stage fibrosis; it more frequently shows different forms of injury, such as linear opacities, predominantly peripheral lung base reticulations, and ground-glass opacities [12].
Pulmonary complications of type 1 neurofibromatosis
2016, Revue des Maladies RespiratoiresCitation Excerpt :Ces lésions s’associent fréquemment avec les images kystiques des sommets décrites précédemment. Des lésions histologiques pouvant faire suggérer l’existence de pneumopathie interstitielle desquamative (PID) ou de respiratory bronchiolitis-associated interstitial lung disease (RBILD) ont également été décrites chez des patients atteints de neurofibromatose de type 1 ayant eu une biopsie pulmonaire chirurgicale [10,12]. L’existence d’une atteinte spécifique interstitielle pulmonaire propre de la neurofibromatose de type 1 reste cependant très controversée, certains auteurs rattachant cette atteinte au tabagisme et un rôle direct de la fumée de tabac au niveau pulmonaire sur des tissus dans lesquels la perte du contrôle négatif de Ras, par la perte de NF1 favoriserait prolifération et/ou apoptose dérégulées au niveau du poumon profond [16].
Alveolar Hemorrhage and Rare Infiltrative Diseases
2015, Murray and Nadel's Textbook of Respiratory Medicine: Volume 1,2, Sixth EditionPulmonary Hypertension in Neurofibromatosis
2007, American Journal of CardiologyCitation Excerpt :Histopathologic findings include diffuse intimal thickening and, in some cases, plexiform lesions.2–4 Early reports of pulmonary involvement in NF described diffuse interstitial fibrosis based primarily on the findings of chest radiography.5,6 In 1 report, pulmonary fibrosis was found to be associated with PH in a patient with NF, based again on the finding of increased interstitial markings in the lower lung fields on chest radiography.7
Lack of evidence for an association between neurofibromatosis and pulmonary fibrosis
2005, ChestCitation Excerpt :A CT scan was available in two of the three patients and revealed nonspecific abnormalities that were not characteristic of usual interstitial pneumonia, which is most commonly manifested as subpleural honeycombing in the lower lung zones.2122 The association of pulmonary fibrosis (or fibrosing alveolitis) with NF has been described in multiple reports over the past 40 years.6789101112131415161718 As of 1977, 31 such cases had been described in the English language medical literature.9
Bronchoalveolar lavage cytology in pulmonary fibrosis associated with neurofibromatosis
1996, Respiratory Medicine
Manuscript received March 2; revision accepted April 3.