MCID: PHC006
MIFTS: 30

Phacomatosis Pigmentovascularis malady

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

Aliases & Classifications for Phacomatosis Pigmentovascularis

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Sources:
45NIH Rare Diseases, 51Orphanet, 2CDC, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Phacomatosis Pigmentovascularis:

Name: Phacomatosis Pigmentovascularis 45
Phakomatosis Pigmentovascularis 45 51
 
Ppv 45 2
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 45


Classifications:



External Ids:

Orphanet51 2875
ICD10 via Orphanet28 Q85.8

Summaries for Phacomatosis Pigmentovascularis

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NIH Rare Diseases:45 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 mongolian spot and weber syndrome, and has symptoms including hypopigmented skin patches, cerebral cortical atrophy and paresthesia. Affiliated tissues include skin, bone and eye.

Wikipedia:68 Phakomatosis pigmentovascularis refers to the coexistence of a capillary malformation (port-wine stain)... more...

Related Diseases for Phacomatosis Pigmentovascularis

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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:

 51 (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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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:

33
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 42)
idTitleAuthorsYear
1
Phacomatosis pigmentovascularis. (26513082)
2015
2
Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. (26158369)
2015
3
A Neonatal Case of Phacomatosis Pigmentovascularis Type IIa. (25759788)
2015
4
Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. (26498915)
2015
5
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
6
Phacomatosis Pigmentovascularis Type Vb in a Three-Year Old Boy. (26082606)
2015
7
Phacomatosis pigmentovascularis. (26513083)
2015
8
Phacomatosis pigmentovascularis with Raynaud's phenomena. (26265803)
2015
9
Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis. (25251688)
2014
10
Vascular malformation and common keratinocytic nevus of the soft type: phacomatosis pigmentovascularis revisited. (25506441)
2014
11
Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis. (24019387)
2013
12
Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports. (23445899)
2013
13
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
14
Phacomatosis pigmentovascularis type IIa - case report. (24346888)
2013
15
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. (23769789)
2013
16
Phacomatosis pigmentovascularis type IIB associated with Sturge-Weber syndrome: a case report and review of the literature. (24032298)
2013
17
Fluorescein angiography findings in phacomatosis pigmentovascularis. (23413944)
2013
18
Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. (22713702)
2012
19
Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? (22020813)
2011
20
Birthmarks: phacomatosis pigmentovascularis. (22171874)
2011
21
Skull base tumor in a patient with phacomatosis pigmentovascularis. (21995962)
2011
22
Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. (21670341)
2011
23
Glaucoma associated with phacomatosis pigmentovascularis. (20128546)
2010
24
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. (20186807)
2010
25
Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. (20609155)
2010
26
Phacomatosis pigmentovascularis type Va in a 3-month old. (18429779)
2008
27
Phacomatosis pigmentovascularis type IIIb. (17822502)
2007
28
A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. (17512229)
2007
29
Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb). (17956488)
2007
30
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). (16503893)
2006
31
Phacomatosis pigmentovascularis revisited and reclassified. (15781681)
2005
32
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. (12588390)
2003
33
Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? (12749070)
2003
34
Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. (14721790)
2003
35
Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. (12786710)
2003
36
Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy. (10730775)
2000
37
Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. (9863285)
1998
38
Phacomatosis pigmentovascularis type II. (9889430)
1998
39
Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: a further example of twin spotting? (9188679)
1997
40
Phacomatosis pigmentovascularis with a selective IgA deficiency. (7659644)
1995
41
A case of phacomatosis pigmentovascularis accompanied with esophageal varices due to hypoplasia of the portal veins. (1526436)
1992
42
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet