VON RECKLINGHAUSEN’S DISEASE WITH INTERSTITIAL LUNG DISEASE (ILD): A RARE ASSOCIATION
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2018, Vol 5, Issue 48
Abstract
PRESENTATION OF THE CASE 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.
Authors and Affiliations
Neel Jayesh Thakkar, Ketaki Utpat, Unnati Desai, Jyotsna M Joshi
Keywords
Related Articles
- EP ID EP607589
- DOI 10.18410/jebmh/2018/680
- Views 78
- Downloads 0
ORBITAL CYSTICERCOSIS MASQUERADING AS INTERNUCLEAR OPHTHALMOPLEGIA
A Muslim lady, 24 year old presented with complaints of headache, orbital pain and right eye adduction deficit mimicking Internuclear Ophthalmoplegia. However absence of diplopia in primary or left gaze made us look for...
CLINICAL CHARACTERISTICS AND SHORT-TERM OUTCOMES OF POST-MYOCARDIAL INFARCTION VENTRICULAR SEPTAL RUPTURE- A RETROSPECTIVE STUDY
BACKGROUND We wanted to evaluate the patient characteristics, risk factors, short-term outcomes and predictors of poor outcomes in patients with ventricular septal rupture developed as a complication of acute myocardial...
A STUDY OF RISK FACTORS INFLUENCING ANASTOMOTIC LEAKAGE AFTER SMALL BOWEL ANASTOMOSIS
BACKGROUND Anastomotic leak is an important cause of postoperative morbidity and mortality in patients who have undergone bowel anastomosis. The aim of the study is to know about the significance of various factors influ...
A COMPARATIVE STUDY OF ISOAMYL-2-CYANOACRYLATE (NOVOCRYL) WITH SUBCUTICULAR POLYAMIDE SUTURE FOR SURGICAL WOUND CLOSURE
BACKGROUND There are several concerns while selecting the mode of wound closure after surgery, whether major or minor procedure. One of the concerns is how fast and comfortable will be the recovery. A new technology is s...
KNOWLEDGE GAINED FROM A BRIEF SIMULATION-BASED TRAINING ON BASIC NEONATAL RESUSCITATION AMONG NEWLY APPOINTED NURSES - A RETROSPECTIVE STUDY
BACKGROUND Assessing the need of resuscitation and ventilation with bag and mask if needed soon after birth to initiate breathing can decrease neonatal mortality and morbidity. The knowledge on basic neonatal resuscitati...