53:
77:
503:
Patients may have numerous BCCs which can be treated surgically or in some patients, with topical medications. The severity of the basal-cell carcinoma determines the prognosis for most patients. Individually, BCCs rarely cause gross disfigurement, disability or death, but the scar burden and ongoing
495:
the condition. Having a multidisciplinary medical team is important for managing the symptoms, preventing new tumors, and providing support. Many people with NBCCS see a number of physicians and medical professionals on a regular basis including a primary care physician, dermatologist, cardiologist,
478:
is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected. Genetic testing is a sufficient way to confirm the diagnosis when there is suspicion but a lack of clinical diagnostic criteria. It is also beneficial for prenatal testing when
511:
Proper sun protection is extremely important for patients with suspected and confirmed diagnoses of NBCCS. Patients and their families should monitor for signs of NBCCS including developmental delays, abnormal skin lesions, and odontogenic keratocysts in between visits with their multidisciplinary
338:
The most common diagnosing physicians are oral surgeons and dermatologists. However, a NBCCS diagnosis can also be made by geneticists, dentists, orthodontists, primary care physicians, Mohs surgeons, and oncologists. Though not inclusive, this list includes most of the diagnosing healthcare
520:
NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in
Australia. One aspect of NBCCS is that basal-cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of
466:
People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving
538:
The Gorlin
Syndrome Alliance (GSA) is an organization designed to raise awareness and connect those with NBCCS or those who know someone with NBCCS. Within the entirety of the GSA community, there is a great amount of support, education, and drive for furthering research.
142:
condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000–164,000 population. Recent work in
563:
462:
The first presentation of NBCCS is often odontogenic keratocysts that begin to occur, on average, around 13 years of age. Other common initial presentations include multiple BCCs before the age of 20 and medulloblastoma occurring around the age of two.
529:
pits. One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.
553:
558:
305:
codes for the suppressor of fused and inhibits the Hh signaling pathway further downstream by binding to glioma-associated (GLI) transcription factors to prevent translocation to the nucleus. Mutations of
471:
for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.
1259:
177:
is important in regulating cell division and growth, thus mutations in this gene can impact tumor growth. Children who inherit the defective gene from either parent will also have the disorder.
195:: a benign tumor of the jawbone. Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 years average).
1751:
1968:
1887:
755:
Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, et al. (June 1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome".
1607:
1252:
496:
oral surgeon, therapist, plastic surgeon, neurologist, and gynecologist. Building a medical care team provides patients with the tools for managing their condition.
293:(Hh) signaling pathway. The Hedgehog signaling pathway, which promotes cell proliferation and differentiation, is involved in more than 50% of cancers. Mutations in
1311:
2054:
1352:
2049:
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1245:
1764:
1336:
2017:
1793:
1668:
1634:
1419:
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135:(1923–2006). The American dermatologist Robert W. Goltz (1923–2014) was his co-author, which is the basis for the term 'Gorlin-Goltz syndrome'.
2074:
1805:
1672:
1648:
2059:
1908:
1870:
1465:
1442:
600:
1561:
1533:
1517:
1146:
1643:
1980:
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1316:
1841:
1829:
2028:
1958:
1711:
1324:
330:
mutation. Another 30% obtain a spontaneous, non-inherited mutation of the affected gene resulting in the development of NBCCS.
1595:
124:(BCCs). Only about 10% of people with the condition do not develop BCCs; the vast majority of patients develop numerous BCCs.
113:. People with NBCCS are prone to developing various cancers, including a common and usually non-life-threatening form of non-
2064:
1779:
1623:
1384:
1963:
1926:
1892:
322:
mutations are associated with medulloblastoma, a diagnostic criteria for NBCCS. Up to 70% of people with NBCCS inherit a
548:
522:
2005:
1880:
1554:
1542:
1943:
1726:
1277:
290:
235:
500:
Enucleation of the odontogenic cysts can help, but new lesions, infections and jaw deformity are usually a result.
1817:
1391:
1372:
1304:
1686:
1734:
1496:
1437:
1157:
720:
Gorlin RJ, Goltz RW (May 1960). "Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome".
407:
285:), a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome.
2069:
1739:
1574:
52:
819:
Verkouteren BJ, Cosgun B, Reinders MG, Kessler PA, Vermeulen RJ, Klaassens M, et al. (February 2022).
1486:
1480:
1320:
368:
231:
192:
1947:
1340:
1268:
1068:
Cohen B, Weiss G, Yin H (September 2000). "Basal cell carcinoma (BCC) causing spinal cord compression".
377:
885:"Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones"
1368:
1299:
764:
488:
411:
289:
codes for a transmembrane receptor that recognizes the Sonic
Hedgehog ligand (SHH) and represses the
160:
121:
76:
1682:
1678:
1359:
93:) is a rare inherited medical condition involving defects within multiple body systems such as the
1656:
788:
685:
Burgdorf WH, Padilla RS, Hordinsky M (October 2014). "In memoriam: Robert W. Goltz (1923-2014)".
475:
422:
144:
139:
583:
Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. (March 1997).
821:"A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome)"
1697:
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1197:
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65:
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772:
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426:
132:
106:
70:
1578:
455:
252:
246:
223:
768:
1904:
1812:
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1566:
1538:
952:
935:
911:
884:
845:
820:
262:
212:
98:
1044:
564:
List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
2043:
1912:
1602:
1364:
1237:
441:
434:
227:
189:
Multiple basal-cell carcinomas of the skin, most commonly on the face, hands or neck.
170:
999:
975:
444:, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
1921:
1848:
1331:
1208:
792:
670:
Burgdorf W (2008). "Robert J. Gorlin (1923 – 2006).". In Löser C, Plewig G (eds.).
401:
381:
239:
216:
1232:
776:
585:"Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome"
1162:
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733:
117:
1227:
901:
698:
638:
1619:
1222:
1173:
430:
298:
268:
156:
102:
94:
1836:
1824:
1800:
1203:
601:
10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M
208:
1089:
961:
920:
883:
Spadari F, Pulicari F, Pellegrini M, Scribante A, Garagiola U (July 2022).
854:
741:
706:
650:
318:
consequently becomes activated and GLI can be translocated to the nucleus.
784:
608:
185:
Some or all of the following may be seen in someone with Gorlin syndrome:
1954:
1788:
1660:
415:
258:
114:
1138:
1081:
526:
451:
447:
836:
2000:
1706:
1664:
1223:
GeneReviews/NCBI/NIH/UW entry on Nevoid Basal Cell
Carcinoma Syndrome
584:
2012:
1988:
1614:
1414:
1379:
936:"Hedgehog signalling pathway: carcinogenesis and targeted therapy"
554:
List of radiographic findings associated with cutaneous conditions
281:
152:
559:
List of dental abnormalities associated with cutaneous conditions
458:(the latter is generally found in children below the age of two).
365:
more than 2 BCCs or 1 BCC in a person younger than 20 years;
1975:
1899:
1875:
1505:
1460:
1151:
492:
165:
110:
1241:
1103:
934:
Ebrahimi A, Larijani L, Moradi A, Ebrahimi MR (Winter 2013).
131:
refers to the
American oral pathologist and human geneticist
1023:
491:, that is, treatment to reduce any symptoms rather than to
173:, though some patients do not have either known mutation.
138:
First described in 1960 by Gorlin and Goltz, NBCCS is an
279:
Mutations in the human homologue of
Drosophila patched (
198:
Pits on the soles of the feet and palms of their hands.
1969:
Junctional epidermolysis bullosa with pyloric atresia
1228:
GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion
1128:
1936:
1863:
1778:
1725:
1696:
1633:
1495:
1479:
1452:
1429:
1406:
1291:
1276:
1183:
1132:
64:
28:
23:
814:
812:
810:
808:
806:
804:
802:
440:radiologic abnormalities, such as bridging of the
380:or early (<20 years) calcification of the
147:has shown NBCCS to be caused by mutations in the
1608:Congenital insensitivity to pain with anhidrosis
889:Maxillofacial Plastic and Reconstructive Surgery
645:. Treasure Island (FL): StatPearls Publishing.
878:
876:
874:
872:
870:
868:
866:
864:
687:Journal of the American Academy of Dermatology
1253:
632:
630:
628:
626:
624:
622:
620:
618:
8:
1353:Gonadotropin-releasing hormone insensitivity
314:is mutated, and SMO is no longer inhibited,
1769:Congenital amegakaryocytic thrombocytopenia
301:(SMO) and upregulate the Hedgehog pathway.
1854:Autoimmune lymphoproliferative syndrome 1A
1492:
1337:Follicle-stimulating hormone insensitivity
1288:
1260:
1246:
1238:
1129:
414:, frontal bossing, eye anomaly (cataract,
75:
51:
20:
2018:X-linked severe combined immunodeficiency
1794:TNF receptor associated periodic syndrome
951:
910:
900:
844:
674:. Heidelberg: Springer. pp. 362–366.
479:there is a know family history of NBCCS.
637:Spiker AM, Troxell T, Ramsey ML (2024).
487:Treatment is usually multidisciplinary,
1806:Selective immunoglobulin A deficiency 2
1397:Aspirin-exacerbated respiratory disease
575:
1981:EDAR hypohidrotic ectodermal dysplasia
1909:Familial exudative vitreoretinopathy 4
1466:Familial exudative vitreoretinopathy 1
504:development of BCCs may be significant
421:other skeletal abnormalities, such as
37:Multiple basal-cell carcinoma syndrome
1673:Hereditary hemorrhagic telangiectasia
1649:Persistent MĂĽllerian duct syndrome II
1420:Jansen's metaphyseal chondrodysplasia
342:Diagnosis of NBCCS is made by having
310:are also correlated with NBCCS. When
7:
2055:Epidermal nevi, neoplasms, and cysts
1994:Nevoid basal-cell carcinoma syndrome
1443:Familial hypocalciuric hypercalcemia
1233:US National Library of Medicine page
940:Iranian Journal of Cancer Prevention
589:American Journal of Medical Genetics
87:Nevoid basal-cell carcinoma syndrome
24:Nevoid basal-cell carcinoma syndrome
1757:Surfactant metabolism dysfunction 4
722:The New England Journal of Medicine
2050:Cell surface receptor deficiencies
2006:BMPR1A juvenile polyposis syndrome
1927:LDLR Familial hypercholesterolemia
825:The British Journal of Dermatology
14:
1317:Luteinizing hormone insensitivity
389:first-degree relative with NBCCS.
326:mutation and around 4% inherit a
257:ocular abnormalities: cataracts,
1385:Nephrogenic diabetes insipidus 1
374:3 or more palmar or plantar pits
297:could reverse its inhibition of
1325:Male-limited precocious puberty
1712:Leber's congenital amaurosis 1
1624:Gastrointestinal stromal tumor
1024:"Home - Gorlin Syndrome Group"
219:(diagnosed with AP radiograph)
1:
777:10.1126/science.272.5268.1668
418:, microphthalmia, nystagmus).
386:bifid, fused, or splayed ribs
226:and temporoparietal bossing,
2075:Syndromes affecting the skin
549:List of cutaneous conditions
2060:Syndromes with macrocephaly
1305:Congenital hypothyroidism 1
734:10.1056/NEJM196005052621803
201:Rib and vertebrae anomalies
2091:
1964:Glanzmann's thrombasthenia
1944:Immunoglobulin superfamily
1596:Rabson–Mendenhall syndrome
1278:G protein-coupled receptor
1104:"Gorlin Syndrome Alliance"
1070:Dermatology Online Journal
902:10.1186/s40902-022-00355-5
699:10.1016/j.jaad.2014.04.057
361:consist of the following:
204:Intracranial calcification
1818:Hyper-IgM syndrome type 3
1045:"Building Your Care Team"
672:Pantheon der Dermatologie
215:, early calcification of
59:
50:
33:Basal-cell nevus syndrome
1893:Cenani–Lenz syndactylism
1735:Type I cytokine receptor
1373:Hirschsprung's disease 2
1108:Gorlin Syndrome Alliance
1049:Gorlin Syndrome Alliance
1004:Gorlin Syndrome Alliance
980:Gorlin Syndrome Alliance
408:congenital malformations
207:Skeletal abnormalities:
60:Adult patient with NBCCS
1575:Thanatophoric dysplasia
1369:Waardenburg syndrome 4a
1000:"Patient Impact Report"
976:"About Gorlin Syndrome"
397:include the following:
369:odontogenic keratocysts
169:gene on chromosome arm
2029:cell surface receptors
1881:Donnai–Barrow syndrome
1555:Jackson–Weiss syndrome
1543:Antley–Bixler syndrome
1527:KAL2 Kallmann syndrome
1481:Enzyme-linked receptor
1321:Leydig cell hypoplasia
232:mandibular prognathism
193:Odontogenic keratocyst
2065:Syndromes with tumors
1341:XX gonadal dysgenesis
1269:Cell surface receptor
378:ectopic calcification
122:basal-cell carcinomas
45:Gorlin–Goltz syndrome
1687:Loeys–Dietz syndrome
489:supportive treatment
769:1996Sci...272.1668J
763:(5268): 1668–1671.
412:cleft lip or palate
236:cleft lip or palate
1657:TGF beta receptors
1184:External resources
1082:10.5070/D32dj657jt
507:Genetic counseling
476:Genetic counseling
423:Sprengel deformity
352:two minor criteria
344:two major criteria
181:Signs and symptoms
145:molecular genetics
140:autosomal dominant
2037:
2036:
1721:
1720:
1571:Hypochondroplasia
1547:Pfeiffer syndrome
1523:Pfeiffer syndrome
1475:
1474:
1218:
1217:
837:10.1111/bjd.20700
639:"Gorlin Syndrome"
469:Radiation therapy
84:
83:
18:Medical condition
2082:
1591:Donohue syndrome
1551:Crouzon syndrome
1511:Robinow syndrome
1493:
1289:
1262:
1255:
1248:
1239:
1130:
1118:
1117:
1115:
1114:
1100:
1094:
1093:
1065:
1059:
1058:
1056:
1055:
1041:
1035:
1034:
1032:
1031:
1020:
1014:
1013:
1011:
1010:
996:
990:
989:
987:
986:
972:
966:
965:
955:
931:
925:
924:
914:
904:
880:
859:
858:
848:
816:
797:
796:
752:
746:
745:
717:
711:
710:
682:
676:
675:
667:
661:
660:
658:
657:
634:
613:
612:
580:
427:pectus deformity
253:cardiac fibromas
247:ovarian fibromas
222:Distinct faces:
155:) gene found on
133:Robert J. Gorlin
107:endocrine system
80:
79:
71:Medical genetics
55:
21:
2090:
2089:
2085:
2084:
2083:
2081:
2080:
2079:
2040:
2039:
2038:
2033:
1937:Other/ungrouped
1932:
1913:Osteopetrosis 1
1859:
1774:
1717:
1692:
1629:
1579:Muenke syndrome
1485:
1483:
1471:
1448:
1425:
1402:
1280:
1272:
1266:
1219:
1214:
1213:
1179:
1178:
1141:
1127:
1122:
1121:
1112:
1110:
1102:
1101:
1097:
1067:
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1062:
1053:
1051:
1043:
1042:
1038:
1029:
1027:
1022:
1021:
1017:
1008:
1006:
998:
997:
993:
984:
982:
974:
973:
969:
933:
932:
928:
882:
881:
862:
818:
817:
800:
754:
753:
749:
728:(18): 908–912.
719:
718:
714:
684:
683:
679:
669:
668:
664:
655:
653:
636:
635:
616:
582:
581:
577:
572:
545:
536:
518:
485:
456:medulloblastoma
429:, polydactyly,
336:
277:
183:
129:Gorlin syndrome
74:
41:Gorlin syndrome
19:
12:
11:
5:
2088:
2086:
2078:
2077:
2072:
2070:Rare syndromes
2067:
2062:
2057:
2052:
2042:
2041:
2035:
2034:
2032:
2031:
2026:
2022:
2021:
2009:
1997:
1972:
1971:
1966:
1961:
1951:
1950:
1940:
1938:
1934:
1933:
1931:
1930:
1917:
1916:
1905:Worth syndrome
1896:
1884:
1867:
1865:
1864:Lipid receptor
1861:
1860:
1858:
1857:
1845:
1833:
1821:
1809:
1797:
1784:
1782:
1776:
1775:
1773:
1772:
1761:
1760:
1748:
1745:Laron syndrome
1731:
1729:
1723:
1722:
1719:
1718:
1716:
1715:
1702:
1700:
1694:
1693:
1691:
1690:
1676:
1653:
1652:
1639:
1637:
1631:
1630:
1628:
1627:
1620:KIT Piebaldism
1611:
1599:
1593:
1582:
1567:Achondroplasia
1558:
1539:Apert syndrome
1530:
1514:
1501:
1499:
1490:
1477:
1476:
1473:
1472:
1470:
1469:
1456:
1454:
1450:
1449:
1447:
1446:
1433:
1431:
1427:
1426:
1424:
1423:
1410:
1408:
1404:
1403:
1401:
1400:
1388:
1376:
1356:
1344:
1328:
1308:
1295:
1293:
1286:
1274:
1273:
1267:
1265:
1264:
1257:
1250:
1242:
1236:
1235:
1230:
1225:
1216:
1215:
1212:
1211:
1200:
1188:
1187:
1185:
1181:
1180:
1177:
1176:
1165:
1154:
1142:
1137:
1136:
1134:
1133:Classification
1126:
1125:External links
1123:
1120:
1119:
1095:
1060:
1036:
1015:
991:
967:
926:
860:
831:(2): 215–226.
798:
747:
712:
677:
662:
614:
595:(3): 299–308.
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544:
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532:
517:
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509:
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484:
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460:
459:
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419:
405:
395:minor criteria
391:
390:
387:
384:
375:
372:
366:
359:major criteria
335:
332:
276:
273:
272:
271:
266:
263:microphthalmia
255:
249:
243:
220:
213:kyphoscoliosis
205:
202:
199:
196:
190:
182:
179:
99:nervous system
82:
81:
68:
62:
61:
57:
56:
48:
47:
30:
26:
25:
17:
13:
10:
9:
6:
4:
3:
2:
2087:
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2019:
2015:
2014:
2010:
2007:
2003:
2002:
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642:
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402:macrocephaly
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382:falx cerebri
358:
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319:
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251:10% develop
240:macrocephaly
217:falx cerebri
184:
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1193:MedlinePlus
450:and cardio
339:providers.
269:meningiomas
118:skin cancer
29:Other names
2044:Categories
1484:(including
1169:DiseasesDB
1113:2024-04-11
1054:2024-04-11
1030:2024-04-11
1009:2024-04-11
985:2024-04-11
656:2024-04-11
643:StatPearls
570:References
431:syndactyly
410:, such as
371:of the jaw
299:smoothened
245:Bilateral
209:bifid ribs
157:chromosome
1837:TNFRSF13B
1825:TNFRSF13C
1801:TNFRSF13B
1204:eMedicine
1076:(1): 12.
895:(1): 25.
534:Resources
516:Incidence
483:Treatment
348:one major
334:Diagnosis
127:The name
66:Specialty
2025:See also
1955:Integrin
1789:TNFRSF1A
1727:JAK-STAT
1661:Endoglin
1209:derm/291
1090:11328622
962:25250108
921:35843976
855:34375441
742:13851319
707:25349877
651:28613671
543:See also
416:coloboma
291:Hedgehog
259:coloboma
115:melanoma
1948:AGM3, 6
1849:TNFRSF6
1813:TNFRSF5
1453:Class F
1430:Class C
1407:Class B
1292:Class A
1283:hormone
1163:D001478
953:4142901
912:9288940
846:9298899
793:9160210
785:8658145
765:Bibcode
757:Science
609:9096761
527:plantar
452:fibroma
448:ovarian
224:Frontal
153:Patched
120:called
2001:BMPR1A
1752:CSF2RA
1707:GUCY2D
1683:TGFBR2
1679:TGFBR1
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238:, and
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1989:PTCH1
1842:CVID2
1830:CVID4
1669:SMAD4
1665:Alk-1
1644:AMHR2
1603:NTRK1
1562:FGFR3
1534:FGFR2
1518:FGFR1
1415:PTH1R
1380:AVPR2
1360:EDNRB
1348:GnRHR
1312:LHCGR
789:S2CID
324:PTCH1
312:PTCH1
295:PTCH1
287:PTCH1
282:PTCH1
275:Cause
111:bones
91:NBCCS
1976:EDAR
1959:LAD1
1922:LDLR
1900:LRP5
1888:LRP4
1876:LRP2
1635:STPK
1586:INSR
1506:ROR2
1461:FZD4
1438:CASR
1332:FSHR
1300:TSHR
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1158:MeSH
1147:OMIM
1086:PMID
958:PMID
917:PMID
851:PMID
781:PMID
738:PMID
703:PMID
647:PMID
605:PMID
525:and
493:cure
393:The
357:The
350:and
328:SUFU
320:SUFU
316:SUFU
308:SUFU
303:SUFU
175:PTCH
166:SUFU
159:arm
149:PTCH
103:eyes
95:skin
1871:LRP
1765:MPL
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1497:RTK
1078:doi
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907:PMC
897:doi
841:PMC
833:doi
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