Dermatology Book

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Basal Cell Nevus SyndromeAka: 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
    2. Stulberg (2004) Am Fam Physician 70:1481

Basal Cell Nevus Syndrome (C0004779)

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.
Definition (NCI)An inherited condition that causes unusual facial features and disorders of the skin, bone, nervous system, eyes, and endocrine glands. People with this syndrome have an increased chance of developing basal cell carcinoma. Also called Gorlin syndrome.
ConceptsNeoplastic Process (T191)
EnglishBasal cell carcinoma syndrome, Basal cell naevus syndrome, Basal Cell Nevus Syndrome, BCNS, BCNS - Basal cell naevus syndrome, BCNS - Basal cell nevus syndrome, GORLIN SYNDROME, Gorlin's syndrome, Gorlin-Goltz syndrome, Naevoid basal cell carcinoma syndrome, NBCCS, NBCCS - Naevoid basal cell carcinoma syndrome, NBCCS - Nevoid basal cell carcinoma syndrome, NEVOID BASAL CELL CARCINOMA SYNDROME
Spanishsindrome de carcinoma de celulas basales, sindrome de carcinoma de celulas basales nevoides, sindrome de Gorlin, sindrome de Gorlin - Goltz, sindrome del nevo de celulas basales
Parent ConceptsMultiple congenital anomalies (C0000772), Bone Diseases, Developmental (C0005941), Basal cell carcinoma (C0007117), Neoplastic Syndromes, Hereditary (C0027672), Odontogenic Cysts (C0028879), Autosomal dominant hereditary disorder (C0265385), Familial multiple tumor syndrome (C0473571), Hereditary disorder of the integument (C1285303), Primary malignant neoplasm of skin (C1314758), Duplicate concept (C1274013)
SourcesLCH, MSH, MTH, NCI, NDFRT, OMIM, PDQ, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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