Skin melanocytic tumor
Syndromes
Phacomatosis pigmentokeratotica


Topic Completed: 1 April 2013

Revised: 20 May 2019

Copyright: 2003-2019, PathologyOutlines.com, Inc.

PubMed Search: Phacomatosis pigmentokeratotica

Christopher S. Hale, M.D.
Page views in 2018: 306
Page views in 2019 to date: 222
Cite this page: Hale C. Phacomatosis pigmentokeratotica. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/skintumormelanocyticphacomatosispigmento.html. Accessed October 19th, 2019.
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

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