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Monozygotic twins discordant for port wine stains support the post‐zygotic mutation hypothesis
Author(s) -
Chen XD,
Hu XJ,
Ma G,
Lin XX
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2012.01926.x
Subject(s) - ninth , shanghai china , reconstructive surgery , medicine , china , general surgery , history , surgery , geography , physics , archaeology , regional science , acoustics
To the Editor : Port wine stains (PWS) are flat-thick, red-purple, cutaneous lesions most frequently located in the head and neck (1). The molecular basis for PWS is unknown, but is believed to represent an error in vascular development occurring during embryogenesis. Here, we report on two pairs of discordant monozygotic (MZ) twins with PWS. We suggest that post-zygotic mutation origin may play a role in the etiology factors of PWS. A pair of 18-year-old male twins (A) referred to our department because of lateral facial with red nevus since birth (Fig. 1). On the clinical examination, the affected twin presented with an extensive PWS lesion on his right face without skin temperature increased and cardiac movement. The lesion mainly distributes in the V2 dermatomes. He was healthy without glaucoma and MRI indicated that the leptomeningeal vascular abnormalities and cerebral atrophy were not present. He had never undergone any therapy previously. There was no consanguinity in his parents; the family history was negative for PWS, hemangioma and other vascular malformations. Three-year-old female twin pair (B) were born after natural pregnancy and uneventful conception. Delivery at 30 weeks of gestation, both babies stayed in the