Concurrent Left-Sided Spontaneous Pneumothorax in Japanese Monogerminal Twins

Abstract

Monogerminal twin brothers aged 17 were admitted because of concurrent left-sided spontaneous pneumothorax. A familial background of this common disease in association with the human leukocyte antigen (HLA) has been suggested; however, the actual mode of inheritance in association with HLA typing is still uncertain. HLA analysis in this family revealed the HLA-A24, B61 (40), Cw3, DR4, DR53, and DQ3 haplotype in the twins and their father, who also had a medical history of spontaneous pneumothorax. We report these cases as an extremely rare example of familial occurrence of spontaneous pneumothorax.

Pediatric bilateral spontaneous pneumothoraces in monozygotic twins

“…While FSP is discussed among first-degree relatives, the rate of monozygotic twins with FSP is exceedingly rare. Only five case reports of monozygotic twins with FSP were identified in our literature search, with two pediatric cases reported [6][7][8][9][10]. No pair of twins had both ipsilateral and subsequent contralateral pneumothoraces.…”

“…No pair of twins had both ipsilateral and subsequent contralateral pneumothoraces. Several genetic subtypes of the human leukocyte antigen (HLA) haplotypes appear more frequently in familial cases-specifically the HLA A2 B40 [6,7,11,12]. In one particular family of 23 members, five of six siblings had pneumothoraces with four of the five having the HLA A2 B40 haplotype [11].…”

“…There are no comparison studies to confirm this postulation. Of the five case reports of monozygotic twins with FSP, one report did not mention the treatment modality [6], two were English abstracts of Japanese articles [8,10], one case report demonstrated ipsilateral recurrence in both twins-one required VATS [7], and the last case report required open thoracotomy for each twin's ipsilateral pneumothorax for persistent air leak in 1986 when VATS was not established [9].…”