PPV
MCID: PHC006
MIFTS: 28

Phacomatosis Pigmentovascularis (PPV)

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

Aliases & Classifications for Phacomatosis Pigmentovascularis

MalaCards integrated aliases for Phacomatosis Pigmentovascularis:

Name: Phacomatosis Pigmentovascularis 52
Phakomatosis Pigmentovascularis 52 58
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 52
Ppv 52

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q85.8
UMLS via Orphanet 72 C1274879
Orphanet 58 ORPHA2875

Summaries for Phacomatosis Pigmentovascularis

NIH Rare Diseases : 52 Phacomatosis pigmentovascularis (PPV) is a disorder characterized by the co-existence of vascular and pigmentary birthmarks. Signs and symptoms may include port wine stain , melanocytic nevi (commonly known as moles), epidermal nevi , dermal melanocytosis (areas of blue-gray discoloration), nevus spilus , and patches of hyperpigmentation (areas of darker skin). Other skin features may include nevus anemicus (areas of lighter skin) and cafe au lait spots . About half of people with PPV have systemic involvement, which means they have features affecting other areas of the body. People with systemic involvement may have neurologic, ocular (eye), or muscular abnormalities. Several subtypes of PPV have been identified which are generally distinguished based on the specific type(s) of skin features present. Isolated PPV is typically a sporadic disorder that occurs for the first time in people with no family history of PPV. Researchers have found that PPV can be caused by a somatic mutation in the GNA11 or GNAQ gene that is present only in the affected tissues of the body. These mutations are not present in the blood or in unaffected tissues, which means the disorder is likely due to non-inherited mutations that are randomly acquired after conception. In some cases of isolated PPV, the underlying cause remains unknown. Treatment and long-term outlook (prognosis ) of PPV largely depends whether there is systemic involvement and which body parts or organ systems are affected. Isolated PPV without systemic involvement typically does not require treatment. However, large skin lesions may cause problems with body image and self-esteem, so laser treatments may be considered to improve the appearance of skin lesions.

MalaCards based summary : Phacomatosis Pigmentovascularis, also known as phakomatosis pigmentovascularis, is related to phakomatosis cesioflammea and phakomatosis cesiomarmorata. Affiliated tissues include skin, eye and bone, and related phenotypes are reduced bone mineral density and arteriovenous malformation

Wikipedia : 74 Phakomatosis pigmentovascularis is a rare neurocutanous condition where there is coexistence of a... more...

Related Diseases for Phacomatosis Pigmentovascularis

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

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 phakomatosis cesioflammea 11.8
2 phakomatosis cesiomarmorata 11.5
3 phakomatosis spilorosea 11.5
4 weber syndrome 10.7
5 sturge-weber syndrome 10.7
6 cutis marmorata telangiectatica congenita 10.7
7 alopecia 10.6
8 mongolian spot 10.6
9 klippel-trenaunay-weber syndrome 10.5
10 intraocular pressure quantitative trait locus 10.5
11 erythrokeratoderma ''en cocardes'' 10.5
12 retinal detachment 10.4
13 lentigines 10.4
14 vitiligo-associated multiple autoimmune disease susceptibility 6 10.4
15 hemihyperplasia, isolated 10.4
16 becker nevus syndrome 10.4
17 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
18 seizure disorder 10.4
19 overgrowth syndrome 10.4
20 melanoma, uveal 10.4
21 nevus anemicus 10.4
22 dowling-degos disease 1 10.4
23 varicose veins 10.4
24 melanoma, cutaneous malignant 10 10.4
25 melanoma 10.4
26 hemangioma 10.4
27 tièche-jadassohn nevus 10.4
28 angioosteohypertrophic syndrome 10.4
29 nevus of ota 10.4
30 rare genetic skin disease 10.4
31 triiodothyronine receptor auxiliary protein 10.3
32 macular holes 10.3
33 neurofibromatosis, type i 10.2
34 nevus, epidermal 10.2
35 chromosome 2q35 duplication syndrome 10.2
36 moyamoya disease 1 10.2
37 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
38 exudative vitreoretinopathy 10.2
39 hereditary lymphedema i 10.2
40 malignant hypertension 10.2
41 microcephaly 10.2
42 hydronephrosis 10.2
43 synostosis 10.2
44 facial paralysis 10.2
45 ocular melanoma 10.2
46 capillary hemangioma 10.2
47 diffuse meningeal melanocytosis 10.2
48 neurofibromatosis 10.2
49 ocular hypertension 10.2
50 polymicrogyria 10.2

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:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
2 arteriovenous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100026
3 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
4 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
5 paresthesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003401
6 nevus flammeus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001052
7 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
8 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
9 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
10 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
11 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
12 seizure 31 frequent (33%) HP:0001250
13 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
14 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
15 seizures 58 Frequent (79-30%)

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:

40
Skin, Eye, Bone, Brain, Tongue

Publications for Phacomatosis Pigmentovascularis

Articles related to Phacomatosis Pigmentovascularis:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Phacomatosis pigmentovascularis: Report of four new cases. 52 61
27088932 2016
2
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. 52 61
26778290 2016
3
Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. 52 61
12786710 2003
4
Ocular Manifestations of Facial Port-wine Stain, Nevus of Ota and Phakomatosis Pigmentovascularis in Asians. 61
32387657 2020
5
Phacomatosis Pigmentovascularis is Not a Twin-Spot Phenomenon. 61
31821179 2020
6
Congenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome. 61
32055518 2020
7
New case of phacomatosis cesio-flammeo-marmorata: the time is right to review the classification for phacomatosis pigmentovascularis. 61
31463930 2019
8
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis. 61
31420298 2019
9
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis. 61
31872050 2019
10
Phakomatosis pigmentovascularis type IIb. 61
31765096 2019
11
A rare case of phakomatosis pigmentovascularis type IIb associated with inverse Klippel-Trenaunay syndrome and Sturge-Weber syndrome. 61
31571612 2019
12
Clinical characteristics and treatment of 52 cases of phakomatosis pigmentovascularis. 61
31389056 2019
13
Vascular and Pigmented Lesions of Phacomatosis Pigmentovascularis Treated With a Combination of Long-Pulsed, Q-Switched Laser, and Picosecond Lasers. 61
31517658 2019
14
Glaucoma in Phacomatosis Pigmentovascularis in a Young African Adolescent Boy: A Case Report. 61
30994485 2019
15
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. 61
30920161 2019
16
Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients. 61
31148861 2019
17
Oral healthcare management of a child with phakomatosis pigmentovascularis associated with bilateral Sturge-Weber syndrome. 61
30865332 2019
18
Phacomatosis Pigmentovascularis: Simple Presentation of a Not So Simple Dermatological Condition. 61
29067825 2019
19
Pathophysiology and management of glaucoma associated with phakomatoses. 61
29607552 2019
20
A comprehensive review of Mongolian spots with an update on atypical presentations. 61
30083796 2018
21
CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME. 61
28937525 2018
22
A female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report. 61
30142845 2018
23
Port-wine stain as a clue for two rare coexisting entities. 61
30007908 2018
24
Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins. 61
30473605 2018
25
Phacomatosis pigmentovascularis type 2b (phacomatosis cesioflammea) with double superior vena cava, abdominal varicosities, and natal tooth: Novel associations. 61
29479730 2018
26
Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation. 61
29280366 2018
27
[Phakomatosis pigmentovascularis cesioflammea: a case report]. 61
29333836 2018
28
A Case of Phacomatosis Pigmentovascularis Type IIa in a Korean Infant. 61
28966526 2017
29
Phacomatosis Cesioflammea with Cutis Marmorata-like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder? 61
28400644 2017
30
Phakomatosis pigmentovascularis type IIb: A case with Klippel-Trenáunay syndrome and extensive dermal melanocytosis as nevus of Ota, nevus of Ito and ectopic Mongolian spots. 61
27374914 2017
31
An unusual case of phakomatosis pigmentovascularis type IIb with Becker's nevus. 61
27694062 2017
32
Cutis tricolor: a literature review and report of five new cases. 61
27942472 2016
33
Genetic basis for vascular anomalies. 61
27607321 2016
34
Phacomatosis pigmentovascularis of cesioflammea type. 61
28300894 2016
35
A case of phakomatosis pigmentovascularis type II: port-wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita-like lesions. 61
26905386 2016
36
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. 61
27088950 2016
37
Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. 61
26498915 2016
38
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. 61
27051820 2016
39
Mosaic Neurocutaneous Disorders and Their Causes. 61
26706010 2015
40
Phakomatosis pigmentovascularis Type IIb, Sturge-Weber syndrome and cone shaped tongue: An unusual association. 61
26515844 2015
41
Phacomatosis pigmentovascularis. 61
26513082 2015
42
Segmental hypomelanosis and hypermelanosis arranged in a checkerboard pattern are distinct naevi: flag-like hypomelanotic naevus and flag-like hypermelanotic naevus. 61
25752916 2015
43
Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita. 61
26104843 2015
44
Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations. 61
26437284 2015
45
Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma. 61
26131807 2015
46
Phacomatosis pigmentovascularis with Raynaud's phenomena. 61
26265803 2015
47
Phacomatosis Pigmentovascularis Type Vb in a Three-Year Old Boy. 61
26082606 2015
48
Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. 61
26158369 2015
49
Peripheral retinal vasculopathy in childhood glaucoma. 61
25545481 2015
50
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. 61
26312661 2015

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

3 CDC
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48 NCI
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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