MCID: PHC006
MIFTS: 27

Phacomatosis Pigmentovascularis

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

Aliases & Classifications for Phacomatosis Pigmentovascularis

MalaCards integrated aliases for Phacomatosis Pigmentovascularis:

Name: Phacomatosis Pigmentovascularis 50
Phakomatosis Pigmentovascularis 50 56
Ppv 50 3
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 50

Classifications:



Summaries for Phacomatosis Pigmentovascularis

NIH Rare Diseases : 50 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 facial asymmetry, glaucoma and blue sclerae. Affiliated tissues include skin, bone and eye.

Wikipedia : 72 Phakomatosis pigmentovascularis refers to the coexistence of a capillary malformation (port-wine stain)... more...

Related Diseases for Phacomatosis Pigmentovascularis

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

(show all 24)
id Related Disease Score Top Affiliating Genes
1 phakomatosis cesioflammea 11.1
2 phakomatosis cesiomarmorata 11.1
3 phakomatosis spilorosea 11.1
4 mongolian spot 10.3
5 cutis marmorata telangiectatica congenita 10.2
6 melanoma 10.2
7 weber syndrome 10.2
8 choroiditis 10.2
9 hydrocephalus 9.9
10 esophagitis 9.9
11 pyogenic granuloma 9.9
12 nevi flammei 9.9
13 vascular malformation 9.9
14 angiomatosis 9.9
15 nevus of ota 9.9
16 macular holes 9.9
17 erysipelas 9.7
18 intermediate uveitis 9.7
19 uveitis 9.7
20 essential thrombocythemia 9.7
21 retinitis 9.7
22 endophthalmitis 9.7
23 retinal detachment 9.7
24 polycythemia 9.7

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



Diseases related to Phacomatosis Pigmentovascularis

Symptoms & Phenotypes for Phacomatosis Pigmentovascularis

Human phenotypes related to Phacomatosis Pigmentovascularis:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
2 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
3 blue sclerae 56 32 occasional (7.5%) Occasional (29-5%) HP:0000592
4 nevus flammeus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001052
5 hypopigmented skin patches 56 32 hallmark (90%) Very frequent (99-80%) HP:0001053
6 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
7 cerebral cortical atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002120
8 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
9 cerebral calcification 56 32 frequent (33%) Frequent (79-30%) HP:0002514
10 paresthesia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003401
11 reduced bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0004349
12 generalized hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007440
13 arteriovenous malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0100026
14 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543

Drugs & Therapeutics for Phacomatosis Pigmentovascularis

Search Clinical Trials , NIH Clinical Center for Phacomatosis Pigmentovascularis

Genetic Tests for Phacomatosis Pigmentovascularis

Anatomical Context for Phacomatosis Pigmentovascularis

MalaCards organs/tissues related to Phacomatosis Pigmentovascularis:

39
Skin, Bone, Eye, Brain

Publications for Phacomatosis Pigmentovascularis

Articles related to Phacomatosis Pigmentovascularis:

(show all 48)
id Title Authors Year
1
Phacomatosis pigmentovascularis: Report of four new cases. ( 27088932 )
2016
2
Phacomatosis pigmentovascularis: Report of four new cases. ( 27025281 )
2016
3
Phacomatosis pigmentovascularis of cesioflammea type. ( 28300894 )
2016
4
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. ( 27051820 )
2016
5
Choroidal melanoma in phacomatosis pigmentovascularis cesioflflammea. ( 27088950 )
2016
6
Choroidal melanoma in phacomatosis pigmentovascularis cesioi-8ammea. ( 26858045 )
2016
7
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
8
Phacomatosis Pigmentovascularis Type Vb in a Three-Year Old Boy. ( 26082606 )
2015
9
Phacomatosis pigmentovascularis with Raynaud's phenomena. ( 26265803 )
2015
10
Phacomatosis pigmentovascularis. ( 26513083 )
2015
11
Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. ( 26498915 )
2015
12
A Neonatal Case of Phacomatosis Pigmentovascularis Type IIa. ( 25759788 )
2015
13
Phacomatosis pigmentovascularis. ( 26513082 )
2015
14
Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. ( 26158369 )
2015
15
Vascular malformation and common keratinocytic nevus of the soft type: phacomatosis pigmentovascularis revisited. ( 25506441 )
2014
16
Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis. ( 25251688 )
2014
17
Phacomatosis pigmentovascularis type IIa - case report. ( 24346888 )
2013
18
Phacomatosis pigmentovascularis type IIB associated with Sturge-Weber syndrome: a case report and review of the literature. ( 24032298 )
2013
19
Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports. ( 23445899 )
2013
20
Fluorescein angiography findings in phacomatosis pigmentovascularis. ( 23413944 )
2013
21
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. ( 23769789 )
2013
22
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
23
Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis. ( 24019387 )
2013
24
Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. ( 22713702 )
2012
25
Birthmarks: phacomatosis pigmentovascularis. ( 22171874 )
2011
26
Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. ( 21670341 )
2011
27
Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? ( 22020813 )
2011
28
Skull base tumor in a patient with phacomatosis pigmentovascularis. ( 21995962 )
2011
29
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. ( 20186807 )
2010
30
Two reports of phacomatosis pigmentovascularis type IIb, one in association with Sturge-Weber syndrome and Klippel-Trenaunay syndrome. ( 20609155 )
2010
31
Glaucoma associated with phacomatosis pigmentovascularis. ( 20128546 )
2010
32
Phacomatosis pigmentovascularis type Va in a 3-month old. ( 18429779 )
2008
33
Phacomatosis pigmentovascularis type IIIb. ( 17822502 )
2007
34
A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma. ( 17512229 )
2007
35
Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb). ( 17956488 )
2007
36
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). ( 16503893 )
2006
37
Phacomatosis pigmentovascularis revisited and reclassified. ( 15781681 )
2005
38
Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. ( 14721790 )
2003
39
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. ( 12588390 )
2003
40
Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. ( 12786710 )
2003
41
Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? ( 12749070 )
2003
42
Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy. ( 10730775 )
2000
43
Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. ( 9863285 )
1998
44
Phacomatosis pigmentovascularis type II. ( 9889430 )
1998
45
Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: a further example of twin spotting? ( 9188679 )
1997
46
Phacomatosis pigmentovascularis with a selective IgA deficiency. ( 7659644 )
1995
47
A case of phacomatosis pigmentovascularis accompanied with esophageal varices due to hypoplasia of the portal veins. ( 1526436 )
1992
48
Phacomatosis pigmentovascularis: a new syndrome? Report of four cases. ( 3422849 )
1987

Variations for Phacomatosis Pigmentovascularis

Expression for Phacomatosis Pigmentovascularis

Search GEO for disease gene expression data for Phacomatosis Pigmentovascularis.

Pathways for Phacomatosis Pigmentovascularis

GO Terms for Phacomatosis Pigmentovascularis

Sources for Phacomatosis Pigmentovascularis

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