Thakkar NJ, Utpat K, Desai U
Von Recklinghausen’s Disease or Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that is characterized by cutaneous, skeletal, nervous system tumours and pulmonary manifestations. Pulmonary manifestations include fibrosis, lung parenchymal nodules, bullous lung disease and rarely Interstitial Lung Disease. (ILD). NF1 related ILD has been reported previously in upto 60 cases with variable patterns radiologically but frequently confounded by smoking related changes and rarely proven on biopsy. Diagnosis is based on defined clinical criteria of NF-1 with characteristic radiology and confirmed on histopathology with a lung biopsy. We hereby report a noteworthy case of NF1-ILD with non-specific interstitial pneumonitis (NSIP) pattern in a non-smoker female with typical cutaneous and oculars features with a diagnosis attained by a multidisciplinary approach and an amalgamation of radiology and histopathology. A 48-year-old housewife presented with progressive exertional dyspnea and dry cough since 8 years which had increased since 6 months. She had been on inhaler therapy since 7 years intermittently with little benefit. She had been diagnosed as NF1 at the age of 35, and later detected to have systemic hypertension since 1 year. She gave history of occupational exposure to fire extinguisher powder at work place. On examination, she had grade III clubbing, exertional desaturation (70% post exertion) with a sixminute walk distance (6MWD) of 360 m. She had characteristic skin lesions including multiple neurofibromas over face, neck, trunk, axilla, shoulders and back and a large plexiform neurofibroma over her right thigh (figure 1a). She had multiple Café-au-lait spots (>6) over her back, axilla and shoulder with axillary freckles on both the sides (figure 1b). Respiratory system examination showed diminished chest expansion with bilateral end inspiratory fine crepitations best heard in infrascapular regions. On ophthalmic evaluation, her slit lamp examination showed presence of the classical Lisch nodules in the eye (figure 4).
