Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting.

Colin Willoughby

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

Abstract

The term phacomatosis pigmentovascularis (PPV) refers to the occurrence of vascular nevi with melanocytic or epidermal nevi. We report on monozygotic twins (MZTs) discordant for phacomatosis cesioflammea (PPV type II) providing evidence for the mechanism of twin spotting in the development of PPV. The affected twin had a nevus flammeus on the right arm and the right maxilla, and a pigmented area on the trunk in keeping with a persistent, aberrant Mongolian spot. The affected twin had bilateral ocular melanocytosis with abnormal scleral pigmentation, iris mamillations, increased pigmentation of the trabecular meshwork, and increased fundal pigmentation and secondary glaucoma. DNA testing confirmed monozygosity. This case of MZTs discordant for PPV supports the hypothesis that PPV results from mosaicism due to a post-zygotic mutational event and the concept of twin spotting.
Original languageEnglish
Pages (from-to)718-728
Number of pages11
JournalAmerican Journal of Medical Genetics A
Volume152A(3)
Issue number3
Publication statusPublished - Mar 2010

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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