MCID: PHC006
MIFTS: 28

Phacomatosis Pigmentovascularis malady

Rare diseases, Eye diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Phacomatosis Pigmentovascularis

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Sources:
41NIH Rare Diseases, 47Orphanet, 3CDC, 26ICD10 via Orphanet
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Phacomatosis Pigmentovascularis, Aliases & Descriptions:

Name: Phacomatosis Pigmentovascularis 41
Phakomatosis Pigmentovascularis 41 47
 
Ppv 41 3
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 41


Classifications:



External Ids:

Orphanet47 2875
ICD10 via Orphanet26 Q85.8

Summaries for Phacomatosis Pigmentovascularis

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NIH Rare Diseases:41 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 weber syndrome and klippel-trenaunay-weber syndrome, and has symptoms including hypopigmented skin patches, cerebral cortical atrophy and paresthesia. Affiliated tissues include skin, eye and bone.

Wikipedia:63 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 23)
idRelated DiseaseScoreTop Affiliating Genes
1weber syndrome10.6
2klippel-trenaunay-weber syndrome10.4
3scoliosis10.4
4mongolian spot10.4
5melanoma10.4
6cutis marmorata telangiectatica congenita10.4
7alopecia10.3
8malignant hypertension10.3
9phakomatosis cesioflammea10.3
10phakomatosis cesiomarmorata10.3
11phakomatosis spilorosea10.3
12hydrocephalus10.3
13choroiditis10.3
14esophagitis10.3
15pyogenic granuloma10.3
16nevi flammei10.3
17angiomatosis10.3
18macular holes10.2
19polycythemia vera10.0
20myelofibrosis10.0
21erysipelas10.0
22polycythemia10.0
23essential 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:

 47 (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:

Search ClinicalTrials for Phacomatosis Pigmentovascularis

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:

31
Skin, Eye, Bone, 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 34)
idTitleAuthorsYear
1
A Neonatal Case of Phacomatosis Pigmentovascularis Type IIa. (25759788)
2015
2
Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis. (25251688)
2014
3
Vascular malformation and common keratinocytic nevus of the soft type: phacomatosis pigmentovascularis revisited. (25506441)
2014
4
Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis. (24019387)
2013
5
Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports. (23445899)
2013
6
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
7
Phacomatosis pigmentovascularis type IIa - case report. (24346888)
2013
8
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. (23769789)
2013
9
Phacomatosis pigmentovascularis type IIB associated with Sturge-Weber syndrome: a case report and review of the literature. (24032298)
2013
10
Fluorescein angiography findings in phacomatosis pigmentovascularis. (23413944)
2013
11
Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. (22713702)
2012
12
Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? (22020813)
2011
13
Skull base tumor in a patient with phacomatosis pigmentovascularis. (21995962)
2011
14
Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. (21670341)
2011
15
Glaucoma associated with phacomatosis pigmentovascularis. (20128546)
2010
16
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. (20186807)
2010
17
Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. (20609155)
2010
18
Phacomatosis pigmentovascularis type Va in a 3-month old. (18429779)
2008
19
Phacomatosis pigmentovascularis type IIIb. (17822502)
2007
20
A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. (17512229)
2007
21
Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb). (17956488)
2007
22
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). (16503893)
2006
23
Phacomatosis pigmentovascularis revisited and reclassified. (15781681)
2005
24
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. (12588390)
2003
25
Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? (12749070)
2003
26
Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. (14721790)
2003
27
Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. (12786710)
2003
28
Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy. (10730775)
2000
29
Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. (9863285)
1998
30
Phacomatosis pigmentovascularis type II. (9889430)
1998
31
Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: a further example of twin spotting? (9188679)
1997
32
Phacomatosis pigmentovascularis with a selective IgA deficiency. (7659644)
1995
33
A case of phacomatosis pigmentovascularis accompanied with esophageal varices due to hypoplasia of the portal veins. (1526436)
1992
34
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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet