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Infantile perineal protrusion in two monochorionic twins

Paola Cavicchioli1, Enrico Valerio2, Mario Cutrone1

  • 1Department of Pediatrics, Ospedale Dell'Angelo, Mestre, Venice, Italy.

AJP Reports
|December 3, 2014
PubMed

Insights

Infantile perineal protrusion (IPP) in identical twins suggests a genetic link. This rare condition resolved spontaneously in both infants within six weeks without lasting bowel issues.

Area of Science:

  • Pediatrics
  • Genetics
  • Dermatology

Background:

  • Infantile perineal protrusion (IPP) is a rare condition with approximately 100 reported cases.
  • IPP is typically classified into congenital/familial, acquired (constipation-related), and lichen sclerosus et atrophicus-associated types.

Observation:

  • This case report presents two female monochorionic-monoamniotic twins with infantile perineal protrusion (IPP) at birth.
  • Both twins exhibited similar lesions that healed spontaneously within six weeks.
  • Neither twin experienced any alvus disturbances during the follow-up period.

Findings:

  • This is the first reported instance of IPP occurring in monochorionic-monoamniotic twins.
  • The simultaneous occurrence of IPP in genetically identical twins supports the hypothesis of hereditary or genetic factors.
  • The condition resolved spontaneously without intervention or long-term complications.

Implications:

  • This case provides novel evidence for a potential genetic predisposition in the development of infantile perineal protrusion.
  • Further research into the genetic underpinnings of IPP is warranted.
  • Understanding the genetic basis may aid in early diagnosis and management of IPP.

Keywords:
congenital diseaseinfantile perineal protrusionmonochorionic twinsneonatology

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