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[Von Recklinghausen's disease: functional pulmonary changes. 2 case reports]

A B Bohadana, M Maaledj, H Uffholtz

    La Nouvelle Presse Medicale
    |June 24, 1978
    PubMed
    Summary

    Two patients with Von Recklinghausen disease presented with lung lesions and breathing difficulties. Findings included hypoxemia and reduced lung function due to loss of elastic recoil.

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    Area of Science:

    • Pulmonology
    • Medical Genetics

    Background:

    • Von Recklinghausen disease, also known as neurofibromatosis type 1 (NF1), is a genetic disorder.
    • NF1 can affect multiple organ systems, including the lungs.

    Observation:

    • Two patients with NF1 presented with typical skin lesions and diffuse intrapulmonary abnormalities.
    • Symptoms included dyspnea on exertion.
    • Radiological imaging revealed nodular, interstitial, and emphysematous changes in the lungs.

    Findings:

    • Pulmonary function tests indicated hypoxemia without hypercapnia.
    • Maximal expiratory flows were decreased, attributed partly to reduced lung elastic recoil.

    Implications:

    • This case report highlights the significant pulmonary manifestations of Von Recklinghausen disease.
    • Understanding these respiratory complications is crucial for patient management and prognosis.

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