U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Phakomatosis pigmentokeratotica

MedGen UID:
419860
•Concept ID:
C2931658
•
Disease or Syndrome
Synonym: Phacomatosis pigmentokeratotica
SNOMED CT: Phakomatosis pigmentokeratotica (723455009)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017317
Orphanet: ORPHA2874

Definition

A very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi and extracutaneous anomalies. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhakomatosis pigmentokeratotica
Follow this link to review classifications for Phakomatosis pigmentokeratotica in Orphanet.

Recent clinical studies

Etiology

Epidermal nevus syndromes.
Asch S, Sugarman JL
Handb Clin Neurol 2015;132:291-316. doi: 10.1016/B978-0-444-62702-5.00022-6. PMID: 26564089
Epidermal nevus syndromes: clinical findings in 35 patients.
Vidaurri-de la Cruz H, Tamayo-Sánchez L, Durán-McKinster C, de la Luz Orozco-Covarrubias M, Ruiz-Maldonado R
Pediatr Dermatol 2004 Jul-Aug;21(4):432-9. doi: 10.1111/j.0736-8046.2004.21402.x. PMID: 15283784

Diagnosis

Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Mestach L, Polubothu S, Calder A, Denayer E, Gholam K, Legius E, Levtchenko E, Van Laethem A, Brems H, Kinsler VA, Morren MA
Pediatr Dermatol 2020 Sep;37(5):890-895. Epub 2020 Jul 14 doi: 10.1111/pde.14254. PMID: 32662096
Epidermal nevus syndromes.
Sugarman JL
Semin Cutan Med Surg 2007 Dec;26(4):221-30. doi: 10.1016/j.sder.2008.03.006. PMID: 18395670
Epidermal nevus syndromes.
Sugarman JL
Semin Cutan Med Surg 2004 Jun;23(2):145-57. doi: 10.1016/j.sder.2004.01.008. PMID: 15295924
Epidermal nevus syndromes: clinical findings in 35 patients.
Vidaurri-de la Cruz H, Tamayo-Sánchez L, Durán-McKinster C, de la Luz Orozco-Covarrubias M, Ruiz-Maldonado R
Pediatr Dermatol 2004 Jul-Aug;21(4):432-9. doi: 10.1111/j.0736-8046.2004.21402.x. PMID: 15283784

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...