PPV
MCID: PHC006
MIFTS: 30

Phacomatosis Pigmentovascularis (PPV) malady

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

Summaries for Phacomatosis Pigmentovascularis

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44NIH Rare Diseases, 4CDC, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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: Phacomatosis Pigmentovascularis, also known as phakomatosis pigmentovascularis, is related to sturge-weber syndrome and weber syndrome, and has symptoms including blue sclerae, facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy and intellectual deficit/mental/psychomotor retardation/learning disability. Affiliated tissues include skin, eye and brain.

CDC:4 What You Should Know

Wikipedia:66 Phakomatosis pigmentovascularis refers to the coexistence of a capillary malformation (port-wine stain)... more...

Aliases & Classifications for Phacomatosis Pigmentovascularis

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44NIH Rare Diseases, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

phacomatosis pigmentovascularis 44
phakomatosis pigmentovascularis 44 50
association of cutaneous vascular malformations and different pigmentary disorders 44
ppv 44


External Ids:

ICD10 via Orphanet27 Q85.8

Related Diseases for Phacomatosis Pigmentovascularis

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18GeneCards, 19GeneDecks
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Diseases related to Phacomatosis Pigmentovascularis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1sturge-weber syndrome10.6
2weber syndrome10.6
3hemihypertrophy10.4
4mongolian spot10.4
5glaucoma10.4
6melanoma10.4
7cutis marmorata telangiectatica congenita10.4
8alopecia10.3
9hypertension10.3
10malignant hypertension10.3
11phakomatosis cesioflammea10.3
12phakomatosis cesiomarmorata10.3
13phakomatosis spilorosea10.3
14klippel-trenaunay syndrome10.3
15choroiditis10.3
16esophagitis10.3
17hydrocephalus10.3
18neurocutaneous melanosis10.3
19pyogenic granuloma10.3
20nevi flammei10.3
21angiomatosis10.3
22polycythemia vera10.0
23macular holes10.0
24erysipelas10.0
25myelofibrosis10.0
26polycythemia10.0
27essential 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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50Orphanet
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Symptoms:

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

Drugs & Therapeutics for Phacomatosis Pigmentovascularis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Phacomatosis Pigmentovascularis

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Anatomical Context for Phacomatosis Pigmentovascularis

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34MalaCards
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MalaCards organs/tissues related to Phacomatosis Pigmentovascularis:

34
Skin, Eye, Brain

Animal Models for Phacomatosis Pigmentovascularis or affiliated genes

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Publications for Phacomatosis Pigmentovascularis

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53PubMed
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Articles related to Phacomatosis Pigmentovascularis:

(show all 32)
idTitleAuthorsYear
1
Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis. (24019387)
2013
2
Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports. (23445899)
2013
3
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
4
Phacomatosis pigmentovascularis type IIa - case report. (24346888)
2013
5
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. (23769789)
2013
6
Phacomatosis pigmentovascularis type IIB associated with Sturge-Weber syndrome: a case report and review of the literature. (24032298)
2013
7
Fluorescein angiography findings in phacomatosis pigmentovascularis. (23413944)
2013
8
Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. (22713702)
2012
9
Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? (22020813)
2011
10
Birthmarks: phacomatosis pigmentovascularis. (22171874)
2011
11
Skull base tumor in a patient with phacomatosis pigmentovascularis. (21995962)
2011
12
Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. (21670341)
2011
13
Glaucoma associated with phacomatosis pigmentovascularis. (20128546)
2010
14
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. (20186807)
2010
15
Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. (20609155)
2010
16
Phacomatosis pigmentovascularis type Va in a 3-month old. (18429779)
2008
17
Phacomatosis pigmentovascularis type IIIb. (17822502)
2007
18
A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. (17512229)
2007
19
Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb). (17956488)
2007
20
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). (16503893)
2006
21
Phacomatosis pigmentovascularis revisited and reclassified. (15781681)
2005
22
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. (12588390)
2003
23
Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? (12749070)
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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16Gene Expression Omnibus DataSets
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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet