Sudden onset of dyspnea in a woman with skin lesions and lung cysts

Sirolimus in lymphangioleiomyomatosis: A case in point for research in ‘orphan’ diseases

“…Against this backdrop, low-dose sirolimus seems to be as efficacious as conventional dose sirolimus in patients with LAM, albeit at a risk of lower efficacy but with a lower frequency of AEs. Unfortunately, the design of adequately powered pivotal trials is challenging in rare diseases, for example, only few case reports exist in Indian literature regarding LAM,[212223] and the largest Indian registry of interstitial lung disease, ILD India Registry, mentioned LAM in only 2 (0.2%) of 1047 cases. [24] Such data call for multicentric and multinational studies from densely populated countries such as India and China with a uniform protocol of diagnosis and treatment which might offer the opportunity to have adequate numbers for robust statistical conclusions on the management of such diseases.…”

Yet another pulmonary manifestation of tuberous sclerosis

“…We read a recent article titled “Sudden onset of dyspnea in a woman with skin lesions and lung cysts”[ 1 ] in pictorial quiz section of your esteemed journal with great interest. The authors have described lymphangioleiomyomatosis causing pneumothorax in a female with tuberous sclerosis.…”

Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome

“…We read with great interest the pictorial quiz case reported by Singh and Singh[ 1 ] describing a patient of pulmonary lymphangioleiomyomatosis (LAM) in association with tuberous sclerosis complex (TSC) presenting with pneumothorax, cystic lung lesions, and characteristic dermatological findings. The authors have discussed some important causes of cystic lung lesions in the discussion which included pulmonary Langerhans cell histiocytosis (PLCH) with the special mention of ‘bizarre’ shape of lung cysts seen in this disorder.…”