title: Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition.
abstract: Epidermal nevus syndrome is the term for the association of an epidermal nevus and extracutaneous anomalies, including neurologic, ophthalmic, and skeletal defects. Epidermal nevus syndromes include different disorders that share the feature of mosaicism. Phacomatosis pigmentokeratotica (PPK) is a distinctive new epidermal nevus syndrome first described in 1996 characterized by the presence of multiple organoid nevi with sebaceous differentiation, a speckled lentiginous nevus, and skeletal and neurologic abnormalities. Only a handful of cases of PPK without extracutaneous manifestations have been reported. We report here an individual with PPK with only cutaneous signs and confirm this distinctive syndrome has two subtypes according to the presence or absence of extracutaneous involvement.
authors.affiliation: Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok Thailand.|Department of Dermatology, Henry Ford Hospital, Detroit, Michigan.
authors.forename: Rattanavalai
authors.initials: R
authors.lastname: Chantorn
authors.affiliation: Department of Dermatology, Henry Ford Hospital, Detroit, Michigan.
authors.forename: Tor
authors.initials: T
authors.lastname: Shwayder
mesh_terms: D000293:Adolescent; D001706:Biopsy; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D009508:Nevus, Pigmented / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery
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