Dermatology Book

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Basal Cell Nevus Syndrome

Aka: Basal Cell Nevus Syndrome, Gorlin's Syndrome
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  1. See Also
    1. Nonmelanoma Skin Cancer
    2. Basal Cell Carcinoma
  2. Epidemiology
    1. Prevalence: 1 per 60,000
    2. Autosomal dominant inheritance
    3. Gene localized to chromosome 9q22.1-q31
  3. 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
  4. 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
  5. 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
  6. Prevention: Modifiable risk factor reduction
    1. See Sun Exposure (lists general preventive measures)
    2. See Sunscreen
  7. References
    1. Bitar (2002) Am Fam Physician 65(12):2501-4
    2. Stulberg (2004) Am Fam Physician 70:1481-8

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) 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 (JABL) A syndrome of nevoid basal cell carcinomas, odontogenic keratocysts of the jaws, skeletal anomalies, and intracranial calcifications with more than 100 different signs and symptoms occurring in variable clusters. Basal-cell carcinoma, although the primary characteristic of this syndrome, may not be present in all affected adults. The syndrome occurs in about 1 in 200 patients with basal-cell carcinoma. Mental retardation complicates about 5%. Basal-cell carcinoma associated with coarse sparse hair and milia is referred to as the Bazex syndrome.
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, NBCCS, 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, Naevoid basal cell carcinoma syndrome (disorder), Gorlin syndrome 2, jaw cysts-basal cell tumors-skeletal anomalies syndrome, odontogenic keratocytosis-skeletal anomalies syndrome, multiple basal-cell carcinoma syndrome multiple basal-cell nevus syndrome, basal-cell nevus syndrome (BCNS), multiple nevoid basal-cell epithelioma-jaw cysts-bifid rib syndrome, nevoid basal-cell epithelioma-jaw cysts-bifid rib syndrome, multiple nevoid basal-cell carcinoma syndrome (MNBCCS), multiple nevoid basal-cell carcinoma syndrome, nevoid basal-cell carcinoma (NBCC) syndrome (NBCCS, NBS), nevoid basal-cell carcinoma syndrome, basal-cell nevus syndrome, multiple hereditary cutaneomandibular polyoncosis, hereditary cutaneomandibular polyoncosis, fifth phacomatosis, 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, Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies, Syndrome, Gorlin-Goltz, Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies, Gorlin-Goltz Syndrome, Gorlin Goltz Syndrome, Fifth Phacomatoses, Fifth Phacomatosis, 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 de nevo basocelular, Síndrome de Gorlin, Síndrome do Carcinoma Nevóide Basocelular, Síndrome do Nevo Basocelular
French NBC (Naevomatose BasoCellulaire), Syndrome du carcinome naevoïde basocellulaire, 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 ｷﾃｲｻｲﾎﾞｳﾎﾞﾊﾝｼｮｳｺｳｸﾞﾝ, 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
Spanish Nevoid basal cell carcinoma syndrome, Naevoid basal cell carcinoma syndrome, 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, Sindrome de Gorlin, Sindrome del Carcinoma Nevo Basocelular, Sindrome del Nevo Basocelular
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
Croatian SINDROM NEVUSA BAZALNIH STANICA, GORLINOV SINDROM
Hungarian Basalsejtes naevus syndroma
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-
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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