Skin melanocytic tumor
Phacomatosis pigmentokeratotica

Topic Completed: 1 April 2013

Minor changes: 3 November 2020

Copyright: 2003-2021,, Inc.

PubMed Search: Phacomatosis pigmentokeratotica

Christopher S. Hale, M.D.
Page views in 2020: 130
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Cite this page: Hale CS. Phacomatosis pigmentokeratotica. website. Accessed January 17th, 2021.
Definition / general
  • Rare syndrome defined by organoid nevus (occasionally with sebaceous differentiation) arranged along Blaschko’s lines plus speckled lentiginous nevus (SLN) of papular type (papular nevus spilus) in checkerboard pattern (Pediatr Dermatol 2011;28:715)

  • Subdivided based on presence or absence of extracutaneous abnormalities including:
    • Skeletal: bone cysts, kyphosis and scoliosis, foot and hand deformities, craniofacial defects, dislocation of hip hemihypertrophy and vitamin D resistant rickets
    • Neurologic: hemimegalencephaly with contralateral motor disease, mental and cognitive deficiency, seizure, hydrocephalus, Dandy-Walker malformation, dysplasia of brain vessels, agenesis of corpus callosum, cerebral heterotropia, cortical agyria, microgyria or pachygyria
    • Ocular: coloboma, epibulbar lipodermoid, nystagmus, corneal opacity, defects of optic nerve and cortical blindness
    • Genitourinary and renal: rhabdomyosarcoma of bladder, nephroblastoma (Acta Derm Venereol 2010;90:279)
    • Other: rhabdomyosarcoma of abdominal wall (J Am Acad Dermatol 2006;55:S16)
  • Also known as PPK
  • Do not confuse with Phakomatosis pigmentovascularis, combination of melanocytic nevi and nevus flammeus
  • Schimmelpenning syndrome: epidermal nevus associated with neurologic abnormalities, may apply to some cases of PPK
  • ~ 30 cases reported, no reported gender or ethnic predilection
  • May be caused by twin-spot phenomenon
  • May occur at any anatomic site
  • Organoid nevus and speckled lentiginous nevus are usually (80%) ipsilateral
Case reports
Clinical images

Images hosted on other servers:
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Speckled lentiginous
nevus showing a

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Speckled lentiginous nevus

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Linear arrangement
of organoid
nevus on neck
and upper back

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Systematized epidermal nevus of left side of body

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Epidermal nevus
and pigmented
lesions right
forearm and back

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Speckled lentiginous nevus in lumbar area

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Epidermal nevus right side of trunk and leg

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