Skin-melanocytic tumor
Nevi
Phacomatosis pigmentokeratotica

Author: Christopher Hale, M.D. (see Authors page)

Revised: 22 February 2017, last major update April 2013

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PubMed Search: Phacomatosis pigmentokeratotica
Cite this page: Phacomatosis pigmentokeratotica. PathologyOutlines.com website. http://pathologyoutlines.com/topic/skintumormelanocyticphacomatosispigmento.html. Accessed November 19th, 2017.
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)
Terminology
  • 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
Epidemiology
  • ~ 30 cases reported, no reported gender or ethnic predilection
  • May be caused by twin-spot phenomenon
Sites
  • 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 checkerboard distribution

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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