MCID: PHC005
MIFTS: 14

Phacomatosis Pigmentokeratotica

Categories: Rare diseases

Aliases & Classifications for Phacomatosis Pigmentokeratotica

MalaCards integrated aliases for Phacomatosis Pigmentokeratotica:

Name: Phacomatosis Pigmentokeratotica 20 70
Organoid Nevus with Sebaceous Differentiation, a Speckled-Lentiginous Nevus, and Other Associated Anomalies 20

Classifications:



External Ids:

UMLS 70 C2931658

Summaries for Phacomatosis Pigmentokeratotica

MalaCards based summary : Phacomatosis Pigmentokeratotica, also known as organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies, is related to phakomatosis pigmentokeratotica and nevus, epidermal. An important gene associated with Phacomatosis Pigmentokeratotica is HRAS (HRas Proto-Oncogene, GTPase). Affiliated tissues include heart and adrenal gland.

Related Diseases for Phacomatosis Pigmentokeratotica

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



Diseases related to Phacomatosis Pigmentokeratotica

Symptoms & Phenotypes for Phacomatosis Pigmentokeratotica

Drugs & Therapeutics for Phacomatosis Pigmentokeratotica

Search Clinical Trials , NIH Clinical Center for Phacomatosis Pigmentokeratotica

Genetic Tests for Phacomatosis Pigmentokeratotica

Anatomical Context for Phacomatosis Pigmentokeratotica

MalaCards organs/tissues related to Phacomatosis Pigmentokeratotica:

40
Heart, Adrenal Gland

Publications for Phacomatosis Pigmentokeratotica

Articles related to Phacomatosis Pigmentokeratotica:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis. 61
33583608 2021
2
Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle. 61
32725253 2020
3
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: 12-year follow-up. 61
31788526 2019
4
Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus. 61
30767209 2019
5
Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy. 61
30827948 2019
6
Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma. 61
29430633 2018
7
A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas. 61
28937433 2018
8
Phacomatosis pigmentokeratotica: A very rare twin spotting phenomenon. 61
28799528 2018
9
Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation. 61
28489335 2018
10
HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous disease. 61
28736904 2017
11
Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. 61
28523882 2017
12
Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? 61
27398198 2016
13
Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF-Glu586Lys Mutation. 61
26703821 2016
14
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. 61
26829038 2016
15
Apocrine intraductal carcinoma in situ in nevus sebaceus: two case reports. 61
25302933 2014
16
Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. 61
24628623 2014
17
Phacomatosis pigmentokeratotica: a follow-up report with fatal outcome. 61
24337020 2014
18
Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. 61
25024780 2014
19
An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. 61
24877171 2014
20
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. 61
23337891 2013
21
Phacomatosis pigmentokeratotica is a "pseudodidymosis". 61
23856930 2013
22
Phacomatosis pigmento-pigmentaria: should we add a new type of phacomatosis? Fact and controversies. 61
23806163 2013
23
Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. 61
23745233 2013
24
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. 61
23166433 2012
25
Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: a case of phacomatosis pigmentokeratotica? 61
21790731 2012
26
Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. 61
22082467 2011
27
A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. 61
21597669 2011
28
Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva. 61
21781076 2011
29
Phacomatosis pigmento-pigmentaria: aberrant dermal melanocytosis and nevus spilus. 61
21906489 2011
30
Variant of phacomatosis pigmentokeratotica. 61
21352309 2011
31
Widespread nevus spilus associated with torsion dystonia: a case report. 61
21510006 2010
32
The group of epidermal nevus syndromes Part I. Well defined phenotypes. 61
20542174 2010
33
Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. 61
20526546 2010
34
Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities. 61
19706091 2009
35
Speckled lentiginous naevus: which of the two disorders do you mean? 61
19040513 2009
36
Phacomatosis pigmentopigmentalis: aberrant Mongolian spots and segmental café au lait macules. 61
19419484 2009
37
Phacomatosis pigmentokeratotica without extracutaneous abnormailities. 61
18474489 2008
38
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. 61
18304160 2008
39
Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. 61
17868392 2007
40
[Multiple basal cell carcinomas on phacomatosis pigmentokeratotica]. 61
17067530 2006
41
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. 61
16843117 2006
42
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. 61
16792789 2006
43
Two distinct types of speckled lentiginous nevi characterized by macular versus papular speckles. 61
16319475 2006
44
Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. 61
15660897 2005
45
Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. 61
15370709 2004
46
Phacomatosis pigmentokeratotica. 61
12519801 2003
47
Phacomatosis pigmentokeratotica without extracutaneous abnormalities. 61
14657641 2003
48
Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. 61
11872407 2002
49
Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. 61
12013201 2002
50
Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. 61
10725816 2000

Variations for Phacomatosis Pigmentokeratotica

Expression for Phacomatosis Pigmentokeratotica

Search GEO for disease gene expression data for Phacomatosis Pigmentokeratotica.

Pathways for Phacomatosis Pigmentokeratotica

GO Terms for Phacomatosis Pigmentokeratotica

Sources for Phacomatosis Pigmentokeratotica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....