nevoid basal cell carcinoma syndrome; basal cell nevus syndrome; Gorlin-Goltz syndrome
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Epidemiology
- prevalence estimated at 1 per 56,000
- no gender preference
- largely in whites, but occurs in Asians & blacks
- 1-2% of medulloblastomas;
- 0.5% of basal cell carcinomas
Pathology
- affects skin, skeleton, soft tissue, eyes, endocrine system & central nervous system
- all types of basal cell carcinomas
- pits are the result of premature shedding of the horny layer
- jaw cysts
- medulloblastoma
Genetics
- autosomal dominant inheritance
- mutations in the human homolog of Drosophila patched 1 gene (PTCH1) found
Clinical manifestations
- basal cell carcinomas begin to appear singly in childhood or early adolescence & continue to appear throughout life
- basal cell carcinomas appear mostly on sun-exposed areas but also appear on skin not traditionally sun-exposed
- may be hundreds of facial lesions
- tumors on the eyelids, axillae & neck tend to be pedunculated
- invasive tumors are uncommon, but do occur
- palmoplantar lesions
- present in 50% of patients
- pinpoint to several mm in diameter, 1 mm deep
- lateral surface of palms, soles & fingers
- telangiectasia & rarely basal cell carcinoma at the bottom of the pit
- bone lesions
- mandibular jaw odontogenic keratocysts
- defective dentition
- bifid or splayed ribs
- pectus excavatum
- short 4th metacarpals
- scoliosis
- kyphosis
- eye manifestations
- strabismus
- hypertelorism
- dystopia canthorum
- congenital blindness
- neoplasms
- central nervous system manifestations
- agenesis of the corpus callosum
- medulloblastoma, meningioma
- mental retardation is rare
- cacificaton of the lamellar falx
- congenital anomalies
- large body size
Management
- large lesions or lesions on the face
- Surgical excision
- Mohs surgery for cancer in certain regions
- central areas of the face
- behind, in & around the ears
- small lesions on the trunk or extremities
- electrocautery
- combined topical tretinoin & 5% 5-fluorouracil for 25 to 30 days
More general terms
- hereditary neoplastic syndrome; cancer susceptibility syndrome
- developmental disorder syndrome (multisystem disorder)
Additional terms
- dermal melanocytic nevus (basal cell nevus)
- focal dermal hypoplasia; Goltz syndrome
- PTC or patched gene
References
- ↑ Hahn et al. Cell 85:841-51, 1996
- ↑ Color Atlas and Synopsis of Clinical Dermatology, Common and Serious Diseases, 3rd ed, Fitzpatrick et al, McGraw Hill, NY, 1997, pg 218-221
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 513
- ↑ 4.0 4.1 DermNet NZ. Basal cell naevus syndrome (images) http://www.dermnetnz.org/systemic/bcns.html
- ↑ 5.0 5.1 Berg D, Elston DM (images) Medscape: Nevoid Basal Cell Carcinoma Syndrome http://emedicine.medscape.com/article/1101146-overview
Patient information
nevoid basal cell carcinoma syndrome patient information