II. Epidemiology

  1. Prevalence: 1 per 60,000
  2. Autosomal Dominant inheritance
  3. Gene localized to Chromosome 9q22.1-q31

III. Signs: Major features

  1. Multiple Nevoid Basal Cell Cancers
  2. Odontogenic keratocysts (jaw cysts)
    1. First sign of syndrome (occurs in early childhood)
    2. Cysts lined with keratinized epithelium
    3. Originate in dental lamina
    4. Locally erode to teeth if not completely excised
  3. Calcified falx cerebri
  4. Pitting of plantar or palmar surface
  5. Congenital skeletal abnormalities
    1. Hypertelorism
    2. High Scapulae (Sprengel's Deformity)
    3. Frontal bossing (may also involve parietal area)
    4. Synostosis
    5. Bifid ribs

IV. Associated conditions

  1. Cleft Lip and Palate
  2. Neoplasms
    1. Medulloblastoma
    2. Meningioma
    3. Myocardial fibroma
    4. Lyomesenteric cyst
    5. Ovarian fibroma
    6. Rhabdomyoma
  3. Eye disorders
    1. Coloboma
    2. Cataracts
    3. Glaucoma

V. Radiology

  1. Skull XRay: Calcified falx cerebri
  2. Chest XRay: Rib asymmetry or bifid ribs
  3. Panoramic films (Panorex): Dental cysts
    1. Obtain films annually
  4. Pelvic Ultrasound: Ovarian Cysts or fibromas
  5. Brain MRI: Meningiomas or Medulloblastoma

VI. Prevention: Modifiable risk factor reduction

  1. See Sun Exposure (lists general preventive measures)
  2. See Sunscreen

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Ontology: Basal Cell Nevus Syndrome (C0004779)

Definition (NCI) An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.
Definition (NCI_NCI-GLOSS) A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma.
Definition (MSH) Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.
Concepts Neoplastic Process (T191)
MSH D001478
SnomedCT 254704004, 188145001, 69408002
English Basal Cell Nevus Syndrome, Gorlin Syndrome, Nevoid Basal Cell Carcinoma Syndrome, Nevus Syndrome, Basal Cell, Syndrome, Gorlin, Naevoid BCC syndrome, Nevoid BCC syndrome, nevoid basal cell carcinoma syndrome, GORLIN SYNDROME, GORLIN-GOLTZ SYNDROME, BASAL CELL NEVUS SYNDROME, BCNS, NEVOID BASAL CELL CARCINOMA SYNDROME, MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES, BCNS - Basal cell naevus syndr, BCNS - Basal cell nevus syndr, NBCCS-Naev basal cell carc syn, basal cell nevus syndrome (diagnosis), basal cell nevus syndrome, Basal Cell Nevus Syndrome [Disease/Finding], basal cell carcinoma syndrome, gorlin-goltz syndrome, gorlin's syndrome, gorlins syndrome, gorlin goltz syndrome, gorlin syndrome, gorlins's syndrome, Syndrome, Gorlin-Goltz, Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies, Gorlin-Goltz Syndrome, Gorlin Goltz Syndrome, Fifth Phacomatoses, Fifth Phacomatosis, NBCCS, Naevoid basal cell carcinoma syndrome (disorder), Basal cell carcinoma syndrome, Gorlin's syndrome, Gorlin-Goltz syndrome, Basal cell nevus syndrome, Nevoid basal cell carcinoma syndrome, Gorlin syndrome, Basal cell naevus syndrome, Naevoid basal cell carcinoma syndrome, BCNS - Basal cell naevus syndrome, BCNS - Basal cell nevus syndrome, NBCCS - Naevoid basal cell carcinoma syndrome, NBCCS - Nevoid basal cell carcinoma syndrome, Gorlin syndrome (disorder)
Italian Sindrome del nevo basocellullare, Sindrome nevobasocellulare, Sindrome di Gorlin, Sindrome carcinoma nevoide basocellulare, Sindrome basocellulare del nevo
Portuguese Síndrome de nevo de células basais, Síndrome do Carcinoma Nevoide Basocelular, Síndrome de Gorlin Goltz, Síndrome de Gorlin-Goltz, Síndrome de nevo basocelular, Síndrome de Gorlin, Síndrome do Nevo Basocelular
French NBC (Naevomatose BasoCellulaire), Syndrome du carcinome naevoïde basocellulaire, Cinquième phacomatose, Syndrome de naevus cellulaire basal, Naevomatose basocellulaire, Naevomatose baso-cellulaire, Syndrome de Gorlin-Goltz, Syndrome de Gorlin, Syndrome de carcinome basocellulaire naevoïde
Swedish Basalcellsnevussyndrom
Japanese キテイサイボウボハンショウコウグン, Gorlin症候群, 基底細胞母斑症候群, ゴーリン症候群, 母斑基底細胞癌症候群, 母斑様基底細胞癌症候群, 母斑症候群-基底細胞
Czech syndrom bazocelulárního névu, Gorlinův-Goltzův syndrom, Syndrom bazocelulárního névu
Finnish Basaalisoluneevus-oireyhtymä
Russian GORLINA SINDROM, BAZAL'NO-KLETOCHNOGO NEVUSA SINDROM, NEVUSA SINDROM BAZAL'NO-KLETOCHNOGO, NEVOIDNOI BAZAL'NO-KLETOCHNOI KARTSINOMY SINDROM, БАЗАЛЬНО-КЛЕТОЧНОГО НЕВУСА СИНДРОМ, ГОРЛИНА СИНДРОМ, НЕВОИДНОЙ БАЗАЛЬНО-КЛЕТОЧНОЙ КАРЦИНОМЫ СИНДРОМ, НЕВУСА СИНДРОМ БАЗАЛЬНО-КЛЕТОЧНОГО
Polish Zespół nabłoniaków znamionowych, Zespół znamion podstawnokomórkowych, Zespół Gorlina, Zespół znamionowego raka podstawnokomórkowego, Zespół znamionowych nabłoniaków podstawnokomórkowych, Zespół Gorlina-Goltza
Croatian SINDROM NEVUSA BAZALNIH STANICA, GORLINOV SINDROM
Hungarian Basalsejtes naevus syndroma
Norwegian Gorlin-Goltz syndrom, Gorlin syndrom, Basalcellenevussyndrom
Spanish Síndrome de Gorlin Goltz, Síndrome de Gorlin-Goltz, síndrome de Gorlin (trastorno), síndrome de Gorlin - Goltz, síndrome de Gorlin, síndrome de carcinoma de células basales nevoides, síndrome de carcinoma de células basales, síndrome del nevo de células basales, Síndrome del nevus basocelular, Síndrome de Gorlin, Síndrome del Carcinoma Nevo Basocelular, Síndrome del Nevo Basocelular
Dutch basaalcel naevussyndroom, Basale-celnaevussyndroom, Gorlin-Goltz-syndroom, Naevussyndroom, basale-cel-, Naevoïd basale-celcarcinoomsyndroom
German Basalzellnaevus-Syndrom, Gorlin-Goltz-Syndrom, Basalzellnävussyndrom, Nävoides Basalzellkarzinom-Syndrom, Nävus-Syndrom, Basalzell-