PPV
MCID: PHC006
MIFTS: 27

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 53
Phakomatosis Pigmentovascularis 53 59
Association of Cutaneous Vascular Malformations and Different Pigmentary Disorders 53
Ppv 53

Classifications:



External Ids:

ICD10 via Orphanet 34 Q85.8
UMLS via Orphanet 73 C1274879
Orphanet 59 ORPHA2875

Summaries for Phacomatosis Pigmentovascularis

NIH Rare Diseases : 53 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 hypopigmented skin patches

Wikipedia : 75 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 112)
# 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 mongolian spot 10.6
8 alopecia 10.6
9 capillary malformations, congenital 10.6
10 klippel-trenaunay-weber syndrome 10.5
11 intraocular pressure quantitative trait locus 10.5
12 erythrokeratoderma ''en cocardes'' 10.5
13 lentigines 10.4
14 hemihyperplasia, isolated 10.4
15 becker nevus syndrome 10.4
16 seizure disorder 10.4
17 overgrowth syndrome 10.4
18 melanoma, uveal 10.4
19 nevus anemicus 10.4
20 dowling-degos disease 1 10.4
21 varicose veins 10.4
22 melanoma 10.4
23 hemangioma 10.4
24 tièche-jadassohn nevus 10.4
25 angioosteohypertrophic syndrome 10.4
26 nevus of ota 10.4
27 rare genetic skin disease 10.4
28 retinal detachment 10.3
29 macular holes 10.3
30 neurofibromatosis, type i 10.2
31 neurofibromatosis, type iv, of riccardi 10.2
32 nevus, epidermal 10.2
33 chromosome 2q35 duplication syndrome 10.2
34 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
35 moyamoya disease 1 10.2
36 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
37 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
38 exudative vitreoretinopathy 10.2
39 malignant hypertension 10.2
40 hydronephrosis 10.2
41 synostosis 10.2
42 facial paralysis 10.2
43 ocular melanoma 10.2
44 capillary hemangioma 10.2
45 diffuse meningeal melanocytosis 10.2
46 ocular hypertension 10.2
47 microcephaly 10.2
48 polymicrogyria 10.2
49 cerebral atrophy 10.2
50 lower limb hypertrophy 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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
2 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
3 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
4 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
5 paresthesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003401
6 nevus flammeus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001052
7 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
8 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
9 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
10 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
11 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
12 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
13 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
14 blue sclerae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000592

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:

41
Skin, Eye, Bone, Brain, Tongue

Publications for Phacomatosis Pigmentovascularis

Articles related to Phacomatosis Pigmentovascularis:

(show top 50) (show all 158)
# Title Authors PMID Year
1
Phacomatosis pigmentovascularis: Report of four new cases. 38 6
27088932 2016
2
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. 38 6
26778290 2016
3
Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. 38 6
12786710 2003
4
Clinical characteristics and treatment of 52 cases of phakomatosis pigmentovascularis. 38
31389056 2019
5
Glaucoma in Phacomatosis Pigmentovascularis in a Young African Adolescent Boy: A Case Report. 38
30994485 2019
6
Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis. 38
31420298 2019
7
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. 38
30920161 2019
8
Oral healthcare management of a child with phakomatosis pigmentovascularis associated with bilateral Sturge-Weber syndrome. 38
30865332 2019
9
Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients. 38
31148861 2019
10
Phacomatosis Pigmentovascularis: Simple Presentation of a Not So Simple Dermatological Condition. 38
29067825 2019
11
Pathophysiology and management of glaucoma associated with phakomatoses. 38
29607552 2019
12
A comprehensive review of Mongolian spots with an update on atypical presentations. 38
30083796 2018
13
CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME. 38
28937525 2018
14
A female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report. 38
30142845 2018
15
Port-wine stain as a clue for two rare coexisting entities. 38
30007908 2018
16
Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins. 38
30473605 2018
17
Phacomatosis pigmentovascularis type 2b (phacomatosis cesioflammea) with double superior vena cava, abdominal varicosities, and natal tooth: Novel associations. 38
29479730 2018
18
Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation. 38
29280366 2018
19
[Phakomatosis pigmentovascularis cesioflammea: a case report]. 38
29333836 2018
20
A Case of Phacomatosis Pigmentovascularis Type IIa in a Korean Infant. 38
28966526 2017
21
Phacomatosis Cesioflammea with Cutis Marmorata-like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder? 38
28400644 2017
22
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. 38
27374914 2017
23
An unusual case of phakomatosis pigmentovascularis type IIb with Becker's nevus. 38
27694062 2017
24
Cutis tricolor: a literature review and report of five new cases. 38
27942472 2016
25
Genetic basis for vascular anomalies. 38
27607321 2016
26
Phacomatosis pigmentovascularis of cesioflammea type. 38
28300894 2016
27
A case of phakomatosis pigmentovascularis type II: port-wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita-like lesions. 38
26905386 2016
28
Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. 38
27088950 2016
29
Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. 38
26498915 2016
30
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. 38
27051820 2016
31
Mosaic Neurocutaneous Disorders and Their Causes. 38
26706010 2015
32
Phakomatosis pigmentovascularis Type IIb, Sturge-Weber syndrome and cone shaped tongue: An unusual association. 38
26515844 2015
33
Segmental hypomelanosis and hypermelanosis arranged in a checkerboard pattern are distinct naevi: flag-like hypomelanotic naevus and flag-like hypermelanotic naevus. 38
25752916 2015
34
Phacomatosis pigmentovascularis. 38
26513082 2015
35
Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita. 38
26104843 2015
36
Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations. 38
26437284 2015
37
Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma. 38
26131807 2015
38
Phacomatosis pigmentovascularis with Raynaud's phenomena. 38
26265803 2015
39
Phacomatosis Pigmentovascularis Type Vb in a Three-Year Old Boy. 38
26082606 2015
40
Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. 38
26158369 2015
41
Peripheral retinal vasculopathy in childhood glaucoma. 38
25545481 2015
42
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. 38
26312661 2015
43
Congenital Triangular Alopecia. 38
26180448 2015
44
A Neonatal Case of Phacomatosis Pigmentovascularis Type IIa. 38
25759788 2015
45
Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome. 38
26064732 2015
46
Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? 38
26451379 2015
47
Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management. 38
26451378 2015
48
Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome. 38
25657402 2015
49
Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis. 38
25251688 2014
50
A unique case of phakomatosis pigmentovascularis. 38
24117182 2014

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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