Unilateral speckled-lentiginous naevus, contralateral verrucous epidermal naevus, and diffuse ichthyosis-like hyperkeratosis: An unusual example of twin spotting?

G. Tadini, E. Ermacora, G. Carminati, C. Gelmetti, S. Cambiaghi, A. Brusasco, R. Caputo, R. Happle

Research output: Contribution to journalArticle

Abstract

The genetic concept of twin spotting has been proposed to explain paired mosaic patches in plants and animals and, recently, in humans. We have observed a unilateral, systematized epidermal naevus and a contralateral speckled-lentiginous naevus in an 11-year-old girl. Remarkably this girl suffered also from a diffuse ichthyosis-like hyperkeratosis involving the entire body. We infer that the diffuse skin disorder reflects a state of heterozygosity, whereas the epidermal naevus visualizes loss of heterozygosity for the same mutation, having occurred at an early stage of embryogenesis by somatic recombination. Simultaneously, as a result of this mutational event, one of the daughter cells would have become homozygous for a neighbouring allele giving rise to a mosaic patch of multiple eruptive naevi. In conclusion, this unique case provides further circumstantial evidence that paired mosaic lesions in human skin may represent a twin-spot phenomenon.

Original languageEnglish
Pages (from-to)659-663
Number of pages5
JournalEuropean Journal of Dermatology
Volume5
Issue number8
Publication statusPublished - 1995

Keywords

  • epidermal naevus
  • ichthyosis
  • neurologic abnormalities
  • somatic recombination
  • speckled-lentiginous naevus
  • twin-spotting

ASJC Scopus subject areas

  • Dermatology

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