Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy

Authors

  • V. Majmudar,

    1. Department of Dermatology, Heart of England NHS Foundation Trust, Solihull, West Midlands, UK; and *Department of Dermatology, University of Marburg, Marburg, Germany
    Search for more papers by this author
  • A. Loffeld,

    1. Department of Dermatology, Heart of England NHS Foundation Trust, Solihull, West Midlands, UK; and *Department of Dermatology, University of Marburg, Marburg, Germany
    Search for more papers by this author
  • R. Happle,

    1. Department of Dermatology, Heart of England NHS Foundation Trust, Solihull, West Midlands, UK; and *Department of Dermatology, University of Marburg, Marburg, Germany
    Search for more papers by this author
  • A. Salim

    1. Department of Dermatology, Heart of England NHS Foundation Trust, Solihull, West Midlands, UK; and *Department of Dermatology, University of Marburg, Marburg, Germany
    Search for more papers by this author

  • Conflict of interest: none declared.

Dr Vallari Majmudar, Department of Dermatology, Heart of England NHS Foundation Trust, Lode Lane, Solihull, West Midlands, B91 2JL, UK.
E-mail: vmajmudar@doctors.org.uk

Summary

Phacomatosis pigmentokeratotica (PP) is a mosaic disorder that represents a distinct epidermal naevus syndrome. Its defining features are an epidermal naevus that is usually of the sebaceous type and a speckled lentiginous naevus arranged in a chequerboard pattern. In addition, there are neurological, ophthalmological and skeletal abnormalities, including limb hemiatrophy with muscular weakness, ptosis, seizures and ipsilateral segmental hyperaesthesia and hyperhidrosis. We report a 44-year-old man with an extensive epidermal naevus and an ipsilateral speckled lentiginous naevus. He also had ipsilateral right leg hypertrophy and a suprasellar dermoid cyst with associated neurological abnormalities. We propose that this case represents an unusual example of PP.

Ancillary