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nevoid basal cell carcinoma syndrome; basal cell nevus syndrome; Gorlin-Goltz syndrome
Epidemiology:
1) prevalence estimated at 1 per 56,000
2) no gender preference
3) largely in whites, but occurs in Asians & blacks
4) 1-2% of medulloblastomas;
5) 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:
1) autosomal dominant inheritance
2) mutations in the human homolog of Drosophila patched 1 gene (PTCH1) found
Clinical manifestations:
1) basal cell carcinomas begin to appear singly in childhood or early adolescence & continue to appear throughout life
2) basal cell carcinomas appear mostly on sun-exposed areas but also appear on skin not traditionally sun-exposed
3) may be hundreds of facial lesions
4) tumors on the eyelids, axillae & neck tend to be pedunculated
5) invasive tumors are uncommon, but do occur
6) palmoplantar lesions
a) present in 50% of patients
b) pinpoint to several mm in diameter, 1 mm deep
c) lateral surface of palms, soles & fingers
d) telangiectasia & rarely basal cell carcinoma at the bottom of the pit
7) bone lesions
a) mandibular jaw odontogenic keratocysts
b) defective dentition
c) bifid or splayed ribs
d) pectus excavatum
e) short 4th metacarpals
f) scoliosis
g) kyphosis
8) eye manifestations
a) strabismus
b) hypertelorism
c) dystopia canthorum
d) congenital blindness
9) neoplasms
a) fibrosarcoma of the jaw
b) ovarian fibromas
c) teratomas
d) cystadenomas
10) central nervous system manifestations
a) agenesis of the corpus callosum
b) medulloblastoma, meningioma
c) mental retardation is rare
d) cacificaton of the lamellar falx
11) congenital anomalies
a) undescended testes
b) hydrocephalus
c) blindness
d) cataracts
e) glaucoma
f) craniofacial alterations
g) polydactyly
h) syndactyly
i) spina bifida
12) large body size
* images [4,5]
Management:
1) large lesions or lesions on the face
a) Surgical excision
b) Mohs surgery for cancer in certain regions
1] central areas of the face
2] behind, in & around the ears
3) small lesions on the trunk or extremities
a) electrocautery
b) combined topical tretinoin & 5% 5-fluorouracil for 25 to 30 days
Related
dermal melanocytic nevus (basal cell nevus)
focal dermal hypoplasia; Goltz syndrome
Meier-Gorlin syndrome
PTC or patched gene
General
developmental disorder syndrome (multisystem disorder)
hereditary neoplastic syndrome; cancer susceptibility syndrome
Properties
ASSOCIATED-NEOPLASM[S]: basal cell carcinoma
dermal nevus
medulloblastoma
carcinoma
:SITE ovary
fibroma
Database Correlations
OMIM correlations
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
- DermNet NZ. Basal cell naevus syndrome (images)
http://www.dermnetnz.org/systemic/bcns.html
- Berg D, Elston DM (images)
Medscape: Nevoid Basal Cell Carcinoma Syndrome
http://emedicine.medscape.com/article/1101146-overview