Phakomatosis spilorosea

MedGen UID:: 825608
•Concept ID:: C3839763
•: Congenital Abnormality

Synonyms:	Phakomatosis pigmentovascularis type 3; phakomatosis pigmentovascularis type 3; phakomatosis spilorosea
SNOMED CT:	Phakomatosis spilorosea (703285005)
Modes of inheritance:	Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0019327
Orphanet:	ORPHA79485

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPhakomatosis spilorosea

Abnormality of the integument
- Abnormality of the skin
  - Abnormal skin morphology
    - Abnormality of skin pigmentation
      - Hyperpigmentation of the skin
        Port-wine stain with oculocutaneous melanosis
        Phakomatosis spilorosea

Recent clinical studies

Etiology

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.

Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA
J Invest Dermatol 2023 Jun;143(6):1042-1051.e3. Epub 2022 Dec 23 doi: 10.1016/j.jid.2022.09.661. PMID: 36566878 Free PMC Article

Phacomatosis spilorosea versus phacomatosis melanorosea: a critical reappraisal of the worldwide literature with updated classification of phacomatosis pigmentovascularis.

Torchia D
Acta Dermatovenerol Alp Pannonica Adriat 2021 Mar;30(1):27-30. PMID: 33765754

Phacomatosis pigmentovascularis revisited and reclassified.

Happle R
Arch Dermatol 2005 Mar;141(3):385-8. doi: 10.1001/archderm.141.3.385. PMID: 15781681

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