MCID: PGM002
MIFTS: 27

Pigmented Basal Cell Carcinoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Pigmented Basal Cell Carcinoma

MalaCards integrated aliases for Pigmented Basal Cell Carcinoma:

Name: Pigmented Basal Cell Carcinoma 12 15 73
Skin Pigmented Basal Cell Carcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4282
UMLS 73 C1368275

Summaries for Pigmented Basal Cell Carcinoma

Disease Ontology : 12 A basal cell carcinoma characterized by brown or black pigmentation.

MalaCards based summary : Pigmented Basal Cell Carcinoma, also known as skin pigmented basal cell carcinoma, is related to basal cell carcinoma 1 and basal cell carcinoma. An important gene associated with Pigmented Basal Cell Carcinoma is MITF (Melanocyte Inducing Transcription Factor). Affiliated tissues include skin, bone and eye, and related phenotypes are integument and hearing/vestibular/ear

Related Diseases for Pigmented Basal Cell Carcinoma

Diseases related to Pigmented Basal Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 1 10.8
2 basal cell carcinoma 10.8
3 melanoma 10.4
4 albinism 10.2 MITF TYR
5 albinism, ocular, with late-onset sensorineural deafness 10.2 MITF TYR
6 albinism, ocular, with sensorineural deafness 10.2 MITF TYR
7 hypomelanosis of ito 10.2 MITF TYR
8 malignant spindle cell melanoma 10.2 MITF TYR
9 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2 MITF TYR
10 tietz albinism-deafness syndrome 10.2 MITF TYR
11 dowling-degos disease 1 10.1 MITF TYR
12 dowling-degos disease 10.1 KRT14 TYR
13 hermansky-pudlak syndrome 3 10.1 MITF TYR
14 brooke-spiegler syndrome 10.1 KRT14 PTCH1
15 waardenburg syndrome, type 2a 10.1 MITF TYR
16 albinism, oculocutaneous, type iv 10.1 MITF TYR
17 waardenburg syndrome, type 1 10.1 MITF TYR
18 dyschromatosis symmetrica hereditaria 10.1 MITF TYR
19 gallbladder melanoma 10.1 MITF MLANA
20 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 MITF TYR
21 lentigo maligna melanoma 10.1 MITF MLANA
22 angiomyolipoma 10.1 MITF TYR
23 large cell acanthoma 10.1 KRT14 MLANA
24 halo nevi 10.1 MLANA TYR
25 melanoacanthoma 10.1 MLANA TYR
26 ocular albinism 10.1 MITF TYR
27 diffuse meningeal melanocytosis 10.1 MLANA TYR
28 vulvar melanoma 10.0 MLANA TYR
29 piebald trait 10.0 MITF TYR
30 malignant skin fibrous histiocytoma 10.0 MLANA TYR
31 malignant dermis tumor 10.0 MLANA TYR
32 balloon cell malignant melanoma 10.0 FOXO4 MLANA
33 infiltrative basal cell carcinoma 10.0 CLEC2A MLANA
34 central nervous system melanocytic neoplasm 10.0 MLANA TYR
35 ameloblastoma 10.0 KRT14 PTCH1
36 skin sarcoma 10.0 CLEC2A FOXO4 MITF
37 epithelioid cell melanoma 10.0 MITF MLANA TYR
38 breast angiosarcoma 10.0 MITF MLANA TYR
39 melanoma, uveal 9.9 MITF MLANA TYR
40 skin melanoma 9.9 MITF TYR
41 burn scar 9.9
42 nodular malignant melanoma 9.9
43 scrotum basal cell carcinoma 9.9
44 superficial spreading melanoma 9.9
45 pilomatrix carcinoma 9.9
46 sarcomatoid squamous cell skin carcinoma 9.9 FOXO4 MITF MLANA
47 microphthalmia 9.9 MITF MLANA TYR

Graphical network of the top 20 diseases related to Pigmented Basal Cell Carcinoma:



Diseases related to Pigmented Basal Cell Carcinoma

Symptoms & Phenotypes for Pigmented Basal Cell Carcinoma

MGI Mouse Phenotypes related to Pigmented Basal Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.65 KRT14 MITF MLANA PTCH1 TYR
2 hearing/vestibular/ear MP:0005377 9.62 KRT14 MITF PTCH1 TYR
3 neoplasm MP:0002006 9.46 FOXO4 KRT14 PTCH1 TYR
4 normal MP:0002873 9.43 DNTT FOXO4 MCRS1 MITF PTCH1 TYR
5 pigmentation MP:0001186 9.02 KRT14 MITF MLANA PTCH1 TYR

Drugs & Therapeutics for Pigmented Basal Cell Carcinoma

Search Clinical Trials , NIH Clinical Center for Pigmented Basal Cell Carcinoma

Genetic Tests for Pigmented Basal Cell Carcinoma

Anatomical Context for Pigmented Basal Cell Carcinoma

MalaCards organs/tissues related to Pigmented Basal Cell Carcinoma:

41
Skin, Bone, Eye, Bone Marrow

Publications for Pigmented Basal Cell Carcinoma

Articles related to Pigmented Basal Cell Carcinoma:

(show top 50) (show all 69)
# Title Authors Year
1
Evaluation of the appropriate surgical margin for pigmented basal cell carcinoma according to the risk factors for recurrence: a single-institute retrospective study in Japan. ( 29729096 )
2018
2
Microbiopsy Biomarker Profiling in a Superficial Melanoma Resembling a Pigmented Basal Cell Carcinoma. ( 28196220 )
2017
3
Methyl aminolevulinate photodynamic therapy combined with curettage debulking for pigmented basal cell carcinoma. ( 28500762 )
2017
4
Case of nodular melanoma on the upper eyelid dermoscopically mimicking pigmented basal cell carcinoma. ( 27649925 )
2016
5
Pigmented basal cell carcinoma mimicking a superficial spreading melanoma. ( 28076343 )
2016
6
Dermatoscopy-guided therapy of pigmented basal cell carcinoma with imiquimod. ( 28099598 )
2016
7
Nevoid hyperkeratosis of the nipple mimicking a pigmented basal cell carcinoma. ( 28004028 )
2016
8
Treatment of Pigmented Basal Cell Carcinoma with 3a88mm Surgical Margin in Asians. ( 27652267 )
2016
9
Pigmented Basal Cell Carcinoma: Increased Melanin or Increased Melanocytes? ( 27612950 )
2016
10
Non-pigmented basal cell carcinoma occurring within a widespread vitiliginous lesion. ( 27882590 )
2016
11
Pilomatrix Carcinoma Mimicking a Pigmented Basal Cell Carcinoma. ( 28031142 )
2016
12
Unusual Presentation of Pigmented Basal Cell Carcinoma of Face: Surgical Challenge. ( 27630973 )
2016
13
Pigmented basal cell carcinoma: A rare case report. ( 28244464 )
2016
14
Dermatoscopic features of pigmented and non-pigmented basal cell carcinoma. ( 25693214 )
2015
15
Trichilemmoma in continuity with pigmented basal cell carcinoma; with dermatoscopy and dermatopathology. ( 26114053 )
2015
16
Reflectance confocal microscopy is a useful non-invasive tool in the in vivo diagnosis of pigmented basal cell carcinoma in Asians. ( 26390992 )
2015
17
The sensitivity and specificity of optical coherence tomography for the assisted diagnosis of non-pigmented basal cell carcinoma - an observational study. ( 25904111 )
2015
18
Pigmented Basal cell carcinoma of nipple and areola in a male breast - a case report with review of literature. ( 24711752 )
2014
19
Narrow-margin excision is a safe, reliable treatment for well-defined, primary pigmented basal cell carcinoma: an analysis of 288 lesions in Japan. ( 25186070 )
2014
20
History of laser ablation in pigmented basal cell carcinoma conceals classic dermoscopic patterns. ( 25111344 )
2014
21
Efficacy of fluorescence diagnosis-guided Mohs micrographic surgery for pigmented vs non-pigmented basal cell carcinoma. ( 24448667 )
2014
22
History of Laser Ablation in Pigmented Basal Cell Carcinoma Conceals Classic Dermoscopic Patterns. ( 24937312 )
2014
23
Pigmented basal cell carcinoma of the nipple: a case report and review of the literature. ( 24343213 )
2013
24
Pigmented Basal cell carcinoma: a clinical variant, report of two cases. ( 24551712 )
2013
25
Pigmented basal cell carcinoma: uncommon presentation in blue-eyed patients. ( 23739743 )
2013
26
Pigmented Basal Cell Carcinoma in Marjolin's Ulcer. ( 24551702 )
2013
27
Pigmented basal cell carcinoma: Cytological diagnosis and differential diagnoses. ( 23326037 )
2012
28
A growing pigmented lesion in a child with a history of bone marrow transplant and irradiation. Pigmented basal cell carcinoma (BCC). ( 22911197 )
2012
29
Pigmented Basal cell carcinoma of the nipple-areola complex in an elderly woman. ( 22148050 )
2011
30
Clinical image: an unusual pigmented basal cell carcinoma arising from vulva. ( 21993706 )
2011
31
Dermoscopic features of a collision tumour composed of a pigmented basal cell carcinoma and a melanoma. ( 20202050 )
2010
32
Pigmented nodule below the eye. Pigmented basal cell carcinoma. ( 21121559 )
2010
33
Correlation between the dermatoscopic and histopathological features of pigmented basal cell carcinoma. ( 20337825 )
2010
34
skINsight lessons in reflectance confocal microscopy: rapid diagnosis of pigmented basal cell carcinoma. ( 19153366 )
2009
35
Pigmented basal cell carcinoma. ( 23133159 )
2009
36
Pigmented basal cell carcinoma of the scrotum: an unusual site. ( 19052423 )
2008
37
Pigmented basal cell carcinoma of the eyelid in Hispanics. ( 19668766 )
2008
38
Fine needle aspiration biopsy in pigmented basal cell carcinoma. ( 18702375 )
2008
39
Pigmented basal cell carcinoma successfully treated with 5% Imiquimod cream. ( 19882014 )
2008
40
Dendritic cells in pigmented basal cell carcinoma: a relevant finding by reflectance-mode confocal microscopy. ( 17638732 )
2007
41
Pigmented basal cell carcinoma--comparing the diagnostic methods of SIAscopy and dermoscopy. ( 17533490 )
2007
42
Dermoscopic pattern of pigmented basal cell carcinoma, blue-white variant. ( 16681668 )
2006
43
Dermoscopic-pathologic correlation in an unusual case of pigmented basal cell carcinoma. ( 17199663 )
2006
44
Reflectance confocal microscopy of pigmented basal cell carcinoma. ( 16546585 )
2006
45
Polyglandular autoimmune syndrome associated with pigmented basal cell carcinoma. ( 16471475 )
2005
46
Unusual clinical and dermoscopic features in two cases of pigmented basal cell carcinoma. ( 16310078 )
2005
47
Asymptomatic nodule on the lower eyelid. Pigmented basal cell carcinoma of the eyelid. ( 15313822 )
2004
48
Pigmented basal cell carcinoma simulating melanoma in a burn scar. ( 12769409 )
2003
49
Melanoma or pigmented basal cell carcinoma: a clinical-pathologic correlation with dermoscopy, in vivo confocal scanning laser microscopy, and routine histology. ( 12423549 )
2002
50
Interobserver agreement on dermoscopic features of pigmented basal cell carcinoma. ( 12135528 )
2002

Variations for Pigmented Basal Cell Carcinoma

Cosmic variations for Pigmented Basal Cell Carcinoma:

9 (show top 50) (show all 687)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 9
2 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 9
3 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 9
4 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 9
5 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 9
6 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 9
7 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 9
8 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 9
9 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 9
10 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 9
11 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 9
12 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 9
13 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 9
14 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 9
15 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 9
16 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 9
17 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 9
18 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 9
19 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 9
20 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 9
21 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 9
22 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 9
23 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 9
24 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 9
25 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 9
26 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 9
27 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 9
28 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 9
29 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 9
30 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 9
31 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 9
32 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 9
33 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 9
34 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 9
35 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 9
36 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 9
37 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 9
38 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 9
39 COSM10654 TP53 skin,NS,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 9
40 COSM6932 TP53 skin,NS,carcinoma,basal cell carcinoma c.733G>A p.G245S 17:7674230-7674230 9
41 COSM10648 TP53 skin,NS,carcinoma,basal cell carcinoma c.524G>A p.R175H 17:7675088-7675088 9
42 COSM45424 TP53 skin,NS,carcinoma,basal cell carcinoma c.781A>T p.S261C 17:7674182-7674182 9
43 COSM10812 TP53 skin,NS,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 9
44 COSM10659 TP53 skin,NS,carcinoma,basal cell carcinoma c.817C>T p.R273C 17:7673803-7673803 9
45 COSM10794 TP53 skin,NS,carcinoma,basal cell carcinoma c.796G>A p.G266R 17:7673824-7673824 9
46 COSM44552 TP53 skin,NS,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 9
47 COSM10704 TP53 skin,NS,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 9
48 COSM10726 TP53 skin,NS,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 9
49 COSM6549 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>T p.R248L 17:7674220-7674220 9
50 COSM45304 TP53 skin,NS,carcinoma,basal cell carcinoma c.375+1G>A p.? 17:7675993-7675993 9

Expression for Pigmented Basal Cell Carcinoma

Search GEO for disease gene expression data for Pigmented Basal Cell Carcinoma.

Pathways for Pigmented Basal Cell Carcinoma

GO Terms for Pigmented Basal Cell Carcinoma

Biological processes related to Pigmented Basal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 8.62 MITF TYR

Sources for Pigmented Basal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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