Fetal pulmonary choristoma: report of first case and literature review

Abstract

ObjectivesLung tissue choristoma is a very rare disorder where mature lung tissues develop in the site not normal to the lung.Case presentationWe hereby report a first case of fetal pulmonary choristoma in a 23–24 weeks fetus where antenatal ultrasound showed a mass in posterior fossa with severe ventriculomegaly. The mass extended inferiorly in cervical spinal column and thereafter extended in the skin over the back of fetus. Fetal autopsy confirmed these findings. Pathologic findings showed mature lung tissues with bronchi, bronchioles, and alveoli. Clinical exome sequencing showed normal results.ConclusionsWe describe the antenatal ultrasound, fetal autopsy and pathologic findings of an intracranial and cutaneous pulmonary choristoma.

Cutaneous ectopia of lung, located on back and neck: Hitherto undescribed presentation

“…There are only three case reports of cutaneous lung ectopia. 2,6,7 Its presence at multiple sites in one patient has not been reported to the best of our knowledge. Here, we report a case of a 21-month-old boy, who presented with a cystic swelling over back and neck.…”

“…2,6,7 In a case, reported by Nanda et al, pulmonary choristoma was present in posterior fossa of brain of a fetus and extended from spine to back. 7 In the other two reports, these lesions were observed soon after birth or in early childhood, and presented as a solitary swelling in the anterior neck and scapular area. 2,6 Their occurrence at multiple locations has not been reported yet.…”

“…Lung tissue ectopia is hypervascular and looks like a hemangioma radiologically making it difficult to diagnose on imaging study. 2,6,7 However, on pathological examination, well-formed, mature lung tissue consisting of bronchi, bronchioles, and alveoli is seen in the dermis and subcutis. Similar histopathological findings were observed in our 8,9 In our case, the lesion located in neck was inflamed; however, repeated culture of the pus-like material was negative.…”