PPV
MCID: PHC006
MIFTS: 30

Phacomatosis Pigmentovascularis (PPV) malady

Rare diseases, Eye diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories
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Summaries for Phacomatosis Pigmentovascularis

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NIH Rare Diseases:42 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 sturge-weber syndrome and weber syndrome, and has symptoms including iris melanosis/ocular melanosis, follicular/erythematous/edematous papules/milium and irregular/patchy skin hypopigmentation. Affiliated tissues include skin, eye and brain.

CDC:3 What You Should Know

Wikipedia:65 Phakomatosis pigmentovascularis refers to the coexistence of a capillary malformation (port-wine stain)... more...

Aliases & Classifications for Phacomatosis Pigmentovascularis

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Sources:
42NIH Rare Diseases, 48Orphanet, 26ICD10 via Orphanet
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Phacomatosis Pigmentovascularis, Aliases & Descriptions:

Name: Phacomatosis Pigmentovascularis 42
Phakomatosis Pigmentovascularis 42 48
 
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 42
Ppv 42


Classifications:



External Ids:

ICD10 via Orphanet26 Q85.8

Related Diseases for Phacomatosis Pigmentovascularis

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

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1sturge-weber syndrome10.6
2weber syndrome10.6
3hemihypertrophy10.4
4mongolian spot10.4
5melanoma10.4
6cutis marmorata telangiectatica congenita10.4
7alopecia10.3
8hypertension10.3
9malignant hypertension10.3
10phakomatosis cesioflammea10.3
11phakomatosis cesiomarmorata10.3
12phakomatosis spilorosea10.3
13hydrocephalus10.3
14klippel-trenaunay syndrome10.3
15choroiditis10.3
16esophagitis10.3
17neurocutaneous melanosis10.3
18pyogenic granuloma10.3
19angiomatosis10.3
20myelofibrosis10.0
21macular holes10.0
22polycythemia vera10.0
23erysipelas10.0
24polycythemia10.0
25essential thrombocythemia10.0

Graphical network of the top 20 diseases related to Phacomatosis Pigmentovascularis:



Diseases related to phacomatosis pigmentovascularis

Symptoms for Phacomatosis Pigmentovascularis

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Symptoms:

48 (show all 16)
  • iris melanosis/ocular melanosis
  • follicular/erythematous/edematous papules/milium
  • irregular/patchy skin hypopigmentation
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • glaucoma
  • intracranial/cerebral calcifications
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • blue sclerae

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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Drug clinical trials:

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Search 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:

32
Skin, 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 32)
idTitleAuthorsYear
1
Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis. (25251688)
2014
2
Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis. (24019387)
2013
3
Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports. (23445899)
2013
4
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
5
Phacomatosis pigmentovascularis type IIa - case report. (24346888)
2013
6
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. (23769789)
2013
7
Phacomatosis pigmentovascularis type IIB associated with Sturge-Weber syndrome: a case report and review of the literature. (24032298)
2013
8
Fluorescein angiography findings in phacomatosis pigmentovascularis. (23413944)
2013
9
Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. (22713702)
2012
10
Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? (22020813)
2011
11
Birthmarks: phacomatosis pigmentovascularis. (22171874)
2011
12
Skull base tumor in a patient with phacomatosis pigmentovascularis. (21995962)
2011
13
Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. (21670341)
2011
14
Glaucoma associated with phacomatosis pigmentovascularis. (20128546)
2010
15
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. (20186807)
2010
16
Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. (20609155)
2010
17
Phacomatosis pigmentovascularis type Va in a 3-month old. (18429779)
2008
18
Phacomatosis pigmentovascularis type IIIb. (17822502)
2007
19
A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. (17512229)
2007
20
Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb). (17956488)
2007
21
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). (16503893)
2006
22
Phacomatosis pigmentovascularis revisited and reclassified. (15781681)
2005
23
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. (12588390)
2003
24
Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. (14721790)
2003
25
Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. (12786710)
2003
26
Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy. (10730775)
2000
27
Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. (9863285)
1998
28
Phacomatosis pigmentovascularis type II. (9889430)
1998
29
Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: a further example of twin spotting? (9188679)
1997
30
Phacomatosis pigmentovascularis with a selective IgA deficiency. (7659644)
1995
31
A case of phacomatosis pigmentovascularis accompanied with esophageal varices due to hypoplasia of the portal veins. (1526436)
1992
32
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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Compounds for genes affiliated with Phacomatosis Pigmentovascularis

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GO Terms for genes affiliated with Phacomatosis Pigmentovascularis

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Products for genes affiliated with Phacomatosis Pigmentovascularis

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Sources for Phacomatosis Pigmentovascularis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet