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Basal cell carcinoma

MedGen UID:
505327
Concept ID:
CN002427
Finding
Synonyms: Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma
 
HPO: HP:0002671

Definition

The presence of a basal cell carcinoma of the skin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBasal cell carcinoma

Conditions with this feature

Gorlin syndrome
MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor [PNET]), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.
EPIDERMODYSPLASIA VERRUCIFORMIS
MedGen UID:
41831
Concept ID:
C0014522
Neoplastic Process
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer (Ramoz et al., 2000). EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas.
Rothmund-Thomson syndrome
MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectasias, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.
Epidermal nevus syndrome
MedGen UID:
120533
Concept ID:
C0265318
Disease or Syndrome
Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).
Turcot syndrome
MedGen UID:
78553
Concept ID:
C0265325
Disease or Syndrome
Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates.
Follicular atrophoderma and basal cell epitheliomata
MedGen UID:
87539
Concept ID:
C0346104
Neoplastic Process
Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.
Familial multiple trichoepitheliomata
MedGen UID:
220890
Concept ID:
C1275122
Neoplastic Process
Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.
Muir-Torré syndrome
MedGen UID:
231157
Concept ID:
C1321489
Neoplastic Process
Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates.
Xeroderma pigmentosum, variant type
MedGen UID:
376352
Concept ID:
C1848410
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group E
MedGen UID:
341219
Concept ID:
C1848411
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Basal cell carcinoma, multiple
MedGen UID:
343083
Concept ID:
C1854245
Neoplastic Process
Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009). The primary environmental risk factor for BCC is sun exposure, but genetics also has a substantial role. Some of the sequence variants that confer susceptibility seem to operate through their association with fair-pigmentation traits common among Europeans, resulting in reduced protection from the damaging effects of ultraviolet (UV) radiation. Other sequence variants have no obvious role in pigmentation or UV susceptibility but instead seem to operate in the contexts of growth and differentiation of the basal layers of the skin (Stacey et al., 2008; Epstein, 2008; Gudbjartsson et al., 2008; Rafnar et al., 2009). See ASIP (600201), TYR (606933), and SHEP5 (227240) for examples of basal cell carcinoma associated with fair skin or sensitivity to sun. Basal cell carcinoma occurs as a feature of multiple syndromes, including basal cell nevus syndrome (BCNS; 109400), Bazex syndrome (301845), Rombo syndrome (180730), Brooke-Spiegler syndrome (605041), Muir-Torre syndrome (158320), and xeroderma pigmentosum (see 278700). Abnormalities in the Hedgehog signaling pathway are found in basal cell carcinomas; see SHH (600725) and SMOH (601500).
Schopf-Schulz-Passarge syndrome
MedGen UID:
347366
Concept ID:
C1857069
Disease or Syndrome
Rombo syndrome
MedGen UID:
356704
Concept ID:
C1867147
Disease or Syndrome
Xeroderma pigmentosum, complementation group b
MedGen UID:
373493
Concept ID:
C1970808
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group C
MedGen UID:
416702
Concept ID:
C2752147
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).

Recent clinical studies

Etiology

Sun MT, Wu A, Figueira E, Huilgol S, Selva D
Future Oncol 2015 Nov;11(22):3003-10. Epub 2015 Oct 5 doi: 10.2217/fon.15.190. PMID: 26437207
Basset-Seguin N, Hauschild A, Grob JJ, Kunstfeld R, Dréno B, Mortier L, Ascierto PA, Licitra L, Dutriaux C, Thomas L, Jouary T, Meyer N, Guillot B, Dummer R, Fife K, Ernst DS, Williams S, Fittipaldo A, Xynos I, Hansson J
Lancet Oncol 2015 Jun;16(6):729-36. Epub 2015 May 13 doi: 10.1016/S1470-2045(15)70198-1. PMID: 25981813
Migden MR, Guminski A, Gutzmer R, Dirix L, Lewis KD, Combemale P, Herd RM, Kudchadkar R, Trefzer U, Gogov S, Pallaud C, Yi T, Mone M, Kaatz M, Loquai C, Stratigos AJ, Schulze HJ, Plummer R, Chang AL, Cornélis F, Lear JT, Sellami D, Dummer R
Lancet Oncol 2015 Jun;16(6):716-28. Epub 2015 May 14 doi: 10.1016/S1470-2045(15)70100-2. PMID: 25981810
Sekulic A, Migden MR, Lewis K, Hainsworth JD, Solomon JA, Yoo S, Arron ST, Friedlander PA, Marmur E, Rudin CM, Chang AL, Dirix L, Hou J, Yue H, Hauschild A; ERIVANCE BCC investigators.
J Am Acad Dermatol 2015 Jun;72(6):1021-6.e8. doi: 10.1016/j.jaad.2015.03.021. PMID: 25981002
Longo C, Lallas A, Kyrgidis A, Rabinovitz H, Moscarella E, Ciardo S, Zalaudek I, Oliviero M, Losi A, Gonzalez S, Guitera P, Piana S, Argenziano G, Pellacani G
J Am Acad Dermatol 2014 Oct;71(4):716-724.e1. Epub 2014 Jun 11 doi: 10.1016/j.jaad.2014.04.067. PMID: 24928707

Diagnosis

Loh TY, Rubin AG, Brian Jiang SI
Dermatol Surg 2016 Apr;42(4):464-70. doi: 10.1097/DSS.0000000000000695. PMID: 27002472
Sun MT, Wu A, Figueira E, Huilgol S, Selva D
Future Oncol 2015 Nov;11(22):3003-10. Epub 2015 Oct 5 doi: 10.2217/fon.15.190. PMID: 26437207
Evangelista MT, North JP
J Cutan Pathol 2015 Nov;42(11):824-31. Epub 2015 Jul 3 doi: 10.1111/cup.12546. PMID: 26016446
Cohen PR
Dermatol Online J 2014 Aug 17;20(8) PMID: 25148279
Longo C, Lallas A, Kyrgidis A, Rabinovitz H, Moscarella E, Ciardo S, Zalaudek I, Oliviero M, Losi A, Gonzalez S, Guitera P, Piana S, Argenziano G, Pellacani G
J Am Acad Dermatol 2014 Oct;71(4):716-724.e1. Epub 2014 Jun 11 doi: 10.1016/j.jaad.2014.04.067. PMID: 24928707

Therapy

Basset-Seguin N, Hauschild A, Grob JJ, Kunstfeld R, Dréno B, Mortier L, Ascierto PA, Licitra L, Dutriaux C, Thomas L, Jouary T, Meyer N, Guillot B, Dummer R, Fife K, Ernst DS, Williams S, Fittipaldo A, Xynos I, Hansson J
Lancet Oncol 2015 Jun;16(6):729-36. Epub 2015 May 13 doi: 10.1016/S1470-2045(15)70198-1. PMID: 25981813
Migden MR, Guminski A, Gutzmer R, Dirix L, Lewis KD, Combemale P, Herd RM, Kudchadkar R, Trefzer U, Gogov S, Pallaud C, Yi T, Mone M, Kaatz M, Loquai C, Stratigos AJ, Schulze HJ, Plummer R, Chang AL, Cornélis F, Lear JT, Sellami D, Dummer R
Lancet Oncol 2015 Jun;16(6):716-28. Epub 2015 May 14 doi: 10.1016/S1470-2045(15)70100-2. PMID: 25981810
Sekulic A, Migden MR, Lewis K, Hainsworth JD, Solomon JA, Yoo S, Arron ST, Friedlander PA, Marmur E, Rudin CM, Chang AL, Dirix L, Hou J, Yue H, Hauschild A; ERIVANCE BCC investigators.
J Am Acad Dermatol 2015 Jun;72(6):1021-6.e8. doi: 10.1016/j.jaad.2015.03.021. PMID: 25981002
Prescrire Int 2015 Jan;24(156):11-4. PMID: 25729822
Ruiz Salas V, Alegre M, Garcés JR, Puig L
Expert Rev Anticancer Ther 2014 Jun;14(6):741-9. Epub 2014 Mar 10 doi: 10.1586/14737140.2014.895326. PMID: 24611655

Prognosis

Nguyen-Nielsen M, Wang L, Pedersen L, Olesen AB, Hou J, Mackey H, McCusker M, Basset-Seguin N, Fryzek J, Vyberg M
Eur J Dermatol 2015 Sep-Oct;25(5):463-8. doi: 10.1684/ejd.2015.2546. PMID: 26105129
Sekulic A, Migden MR, Lewis K, Hainsworth JD, Solomon JA, Yoo S, Arron ST, Friedlander PA, Marmur E, Rudin CM, Chang AL, Dirix L, Hou J, Yue H, Hauschild A; ERIVANCE BCC investigators.
J Am Acad Dermatol 2015 Jun;72(6):1021-6.e8. doi: 10.1016/j.jaad.2015.03.021. PMID: 25981002
Kauvar AN, Cronin T Jr, Roenigk R, Hruza G, Bennett R; American Society for Dermatologic Surgery.
Dermatol Surg 2015 May;41(5):550-71. doi: 10.1097/DSS.0000000000000296. PMID: 25868035
Prescrire Int 2015 Jan;24(156):11-4. PMID: 25729822
Demirci H, Worden F, Nelson CC, Elner VM, Kahana A
Ophthal Plast Reconstr Surg 2015 Nov-Dec;31(6):463-6. doi: 10.1097/IOP.0000000000000388. PMID: 25675162Free PMC Article

Clinical prediction guides

Gache Y, Brellier F, Rouanet S, Al-Qaraghuli S, Goncalves-Maia M, Burty-Valin E, Barnay S, Scarzello S, Ruat M, Sevenet N, Avril MF, Magnaldo T
PLoS One 2015 Dec 22;10(12):e0145369. doi: 10.1371/journal.pone.0145369. PMID: 26694869Free PMC Article
Fosko SW, Chu MB, Mattox AR, Richart JM, Burkemper NM, Slutsky JB
Dermatol Ther 2015 Nov-Dec;28(6):359-62. Epub 2015 Jun 25 doi: 10.1111/dth.12260. PMID: 26114264
Sofen H, Gross KG, Goldberg LH, Sharata H, Hamilton TK, Egbert B, Lyons B, Hou J, Caro I
J Am Acad Dermatol 2015 Jul;73(1):99-105.e1. Epub 2015 Apr 24 doi: 10.1016/j.jaad.2015.03.013. PMID: 25913533
Cohen PR
Dermatol Online J 2014 Aug 17;20(8) PMID: 25148279
Longo C, Lallas A, Kyrgidis A, Rabinovitz H, Moscarella E, Ciardo S, Zalaudek I, Oliviero M, Losi A, Gonzalez S, Guitera P, Piana S, Argenziano G, Pellacani G
J Am Acad Dermatol 2014 Oct;71(4):716-724.e1. Epub 2014 Jun 11 doi: 10.1016/j.jaad.2014.04.067. PMID: 24928707

Recent systematic reviews

Muranushi C, Olsen CM, Green AC, Pandeya N
J Am Acad Dermatol 2016 Jan;74(1):108-119.e1. Epub 2015 Oct 1 doi: 10.1016/j.jaad.2015.08.034. PMID: 26433247
Alter M, Hillen U, Leiter U, Sachse M, Gutzmer R
J Dtsch Dermatol Ges 2015 Sep;13(9):863-74; quiz 875. doi: 10.1111/ddg.12798. PMID: 26882375
Kauvar AN, Cronin T Jr, Roenigk R, Hruza G, Bennett R; American Society for Dermatologic Surgery.
Dermatol Surg 2015 May;41(5):550-71. doi: 10.1097/DSS.0000000000000296. PMID: 25868035
Prescrire Int 2015 Jan;24(156):11-4. PMID: 25729822
Wang H, Xu Y, Shi J, Gao X, Geng L
Photodermatol Photoimmunol Photomed 2015 Jan;31(1):44-53. Epub 2014 Nov 25 doi: 10.1111/phpp.12148. PMID: 25377432

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