Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy.
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.
Majmudar
V
V
Department of Dermatology, Heart of England NHS Foundation Trust, Solihull, West Midlands, UK. vmajmudar@doctors.org.uk
Loffeld
A
A
Happle
R
R
Salim
A
A
D000328:Adult; D020863:Central Nervous System Cysts / Q000175:diagnosis*; D003884:Dermoid Cyst / Q000175:diagnosis*; D006801:Humans; D006984:Hypertrophy / Q000175:diagnosis / Q000473:pathology; D007866:Leg / Q000473:pathology*; D008297:Male; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000473:pathology