Chest
Volume 64, Issue 4, October 1973, Pages 459-464
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Interstitial Pulmonary Fibrosis and von Recklinghausen’s Disease. An Ultrastructural and Immunofluorescent Study

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We present the clinical and pathologic findings in a 28-year-old white woman with pulmonary fibrosis and von Recklinghausen’s disease. Ultrastructural examination of a lung biopsy specimen showed increased collagen in the alveolar wall, associated with hyperplasia of granular pneumocytes. Large numbers of intraalveolar cells, morphologically suggestive of macrophages, but having tight junctions similar to epithelial cells were also present Direct immunofiuorescent examination using goat anti IgG, IgM, IgA, compliment, albumin, and fibrinogen failed to show specific fluorescence. Despite certain structural similarities to other familial and idiopathic forms of interstitial pneumonia, the pathogenesis remains poorly understood.

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)

  • Alarcón-SegoviaD

    Drug-induced lupus syndromes

    Mayo Clin Proc

    (1969)
  • Cited by (27)

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    Manuscript received March 2; revision accepted April 3.

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