MCID: PHC006
MIFTS: 26

Phacomatosis Pigmentovascularis malady

Categories: Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Phacomatosis Pigmentovascularis

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Sources:
46NIH Rare Diseases, 52Orphanet, 2CDC, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Phacomatosis Pigmentovascularis:

Name: Phacomatosis Pigmentovascularis 46
Phakomatosis Pigmentovascularis 46 52
 
Ppv 46 2
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 46

Classifications:



External Ids:

Orphanet52 ORPHA2875
ICD10 via Orphanet29 Q85.8

Summaries for Phacomatosis Pigmentovascularis

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NIH Rare Diseases:46 Phacomatosis pigmentovascularis (ppv) is a skin and blood vessel disorder that is present from birth. common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi. a variety of classification systems have been proposed for ppv, largely depending on what type of pigmentary lesion is present. around half of individuals with ppv have systemic disease, meaning that body systems other than the skin are affected. systemic symptoms can vary greatly from person to person. ppv is not inherited, but is thought to be caused by a genetic phenomenon called twin spotting. last updated: 2/1/2011

MalaCards based summary: Phacomatosis Pigmentovascularis, also known as phakomatosis pigmentovascularis, is related to phakomatosis cesioflammea and phakomatosis cesiomarmorata, and has symptoms including hypopigmented skin patches, cerebral cortical atrophy and paresthesia. Affiliated tissues include skin, bone and eye.

Wikipedia:69 Phakomatosis pigmentovascularis refers to the coexistence of a capillary malformation (port-wine stain)... more...

Related Diseases for Phacomatosis Pigmentovascularis

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Diseases related to Phacomatosis Pigmentovascularis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1phakomatosis cesioflammea11.2
2phakomatosis cesiomarmorata11.2
3phakomatosis spilorosea11.2
4mongolian spot10.4
5cutis marmorata telangiectatica congenita10.4
6melanoma10.4
7weber syndrome10.4
8choroiditis10.3
9hydrocephalus10.1
10esophagitis10.1
11pyogenic granuloma10.1
12nevi flammei10.1
13vascular malformation10.1
14angiomatosis10.1
15nevus of ota10.1
16macular holes10.0
17myelofibrosis9.9
18erysipelas9.9
19polycythemia9.9
20essential thrombocythemia9.9

Graphical network of diseases related to Phacomatosis Pigmentovascularis:



Diseases related to phacomatosis pigmentovascularis

Symptoms for Phacomatosis Pigmentovascularis

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Symptoms:

 52 (show all 14)
  • facial asymmetry
  • glaucoma
  • blue sclerae
  • nevus flammeus
  • hypopigmented skin patches
  • seizures
  • cerebral cortical atrophy
  • eeg abnormality
  • cerebral calcification
  • paresthesia
  • reduced bone mineral density
  • generalized hyperpigmentation
  • arteriovenous malformation
  • cognitive impairment

HPO human phenotypes related to Phacomatosis Pigmentovascularis:

(show all 13)
id Description Frequency HPO Source Accession
1 hypopigmented skin patches hallmark (90%) HP:0001053
2 cerebral cortical atrophy hallmark (90%) HP:0002120
3 paresthesia hallmark (90%) HP:0003401
4 reduced bone mineral density hallmark (90%) HP:0004349
5 generalized hyperpigmentation hallmark (90%) HP:0007440
6 arteriovenous malformation hallmark (90%) HP:0100026
7 glaucoma typical (50%) HP:0000501
8 seizures typical (50%) HP:0001250
9 eeg abnormality typical (50%) HP:0002353
10 cerebral calcification typical (50%) HP:0002514
11 cognitive impairment typical (50%) HP:0100543
12 facial asymmetry occasional (7.5%) HP:0000324
13 blue sclerae occasional (7.5%) HP:0000592

Drugs & Therapeutics for Phacomatosis Pigmentovascularis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Phacomatosis Pigmentovascularis

Genetic Tests for Phacomatosis Pigmentovascularis

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Anatomical Context for Phacomatosis Pigmentovascularis

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MalaCards organs/tissues related to Phacomatosis Pigmentovascularis:

34
Skin, Bone, Eye, Brain

Animal Models for Phacomatosis Pigmentovascularis or affiliated genes

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Publications for Phacomatosis Pigmentovascularis

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Articles related to Phacomatosis Pigmentovascularis:

(show all 47)
idTitleAuthorsYear
1
Choroidal melanoma in phacomatosis pigmentovascularis cesioi-8ammea. (26858045)
2016
2
Choroidal melanoma in phacomatosis pigmentovascularis cesioflflammea. (27088950)
2016
3
Phacomatosis pigmentovascularis: Report of four new cases. (27088932)
2016
4
Phacomatosis pigmentovascularis: Report of four new cases. (27025281)
2016
5
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. (27051820)
2016
6
Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. (26158369)
2015
7
A Neonatal Case of Phacomatosis Pigmentovascularis Type IIa. (25759788)
2015
8
Phacomatosis Pigmentovascularis Type Vb in a Three-Year Old Boy. (26082606)
2015
9
Phacomatosis pigmentovascularis. (26513083)
2015
10
Phacomatosis pigmentovascularis with Raynaud's phenomena. (26265803)
2015
11
Phacomatosis pigmentovascularis. (26513082)
2015
12
Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. (26498915)
2015
13
The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis. (26312661)
2015
14
Vascular malformation and common keratinocytic nevus of the soft type: phacomatosis pigmentovascularis revisited. (25506441)
2014
15
Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis. (25251688)
2014
16
Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis. (24019387)
2013
17
Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports. (23445899)
2013
18
Phacomatosis pigmentovascularis type IIB associated with Sturge-Weber syndrome: a case report and review of the literature. (24032298)
2013
19
Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report. (24077274)
2013
20
Phacomatosis pigmentovascularis type IIa - case report. (24346888)
2013
21
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. (23769789)
2013
22
Fluorescein angiography findings in phacomatosis pigmentovascularis. (23413944)
2013
23
Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. (22713702)
2012
24
Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? (22020813)
2011
25
Skull base tumor in a patient with phacomatosis pigmentovascularis. (21995962)
2011
26
Birthmarks: phacomatosis pigmentovascularis. (22171874)
2011
27
Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. (21670341)
2011
28
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. (20186807)
2010
29
Glaucoma associated with phacomatosis pigmentovascularis. (20128546)
2010
30
Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. (20609155)
2010
31
Phacomatosis pigmentovascularis type Va in a 3-month old. (18429779)
2008
32
A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. (17512229)
2007
33
Phacomatosis pigmentovascularis type IIIb. (17822502)
2007
34
Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb). (17956488)
2007
35
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). (16503893)
2006
36
Phacomatosis pigmentovascularis revisited and reclassified. (15781681)
2005
37
Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? (12749070)
2003
38
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. (12588390)
2003
39
Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. (14721790)
2003
40
Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. (12786710)
2003
41
Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy. (10730775)
2000
42
Phacomatosis pigmentovascularis type II. (9889430)
1998
43
Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. (9863285)
1998
44
Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: a further example of twin spotting? (9188679)
1997
45
Phacomatosis pigmentovascularis with a selective IgA deficiency. (7659644)
1995
46
A case of phacomatosis pigmentovascularis accompanied with esophageal varices due to hypoplasia of the portal veins. (1526436)
1992
47
Phacomatosis pigmentovascularis: a new syndrome? Report of four cases. (3422849)
1987

Variations for Phacomatosis Pigmentovascularis

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Expression for genes affiliated with Phacomatosis Pigmentovascularis

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Search GEO for disease gene expression data for Phacomatosis Pigmentovascularis.

Pathways for genes affiliated with Phacomatosis Pigmentovascularis

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GO Terms for genes affiliated with Phacomatosis Pigmentovascularis

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Sources for Phacomatosis Pigmentovascularis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet