Nevoid basal-cell

carcinoma
syndrome

Nevoid basal-cell carcinoma syndrome

(NBCCS), is an inherited medical condition
involving defects within multiple body
systems such as the skin, nervous system,
eyes, endocrine system, and bones.[1]
People with this syndrome are particularly
prone to developing a common and
usually non-life-threatening form of non-
melanoma skin cancer. About 10% of
people with the condition do not develop
basal-cell carcinomas (BCCs).
 Nevoid basal-cell carcinoma syndrome

Other names Basal-cell nevus

syndrome, Multiple
basal-cell carcinoma
syndrome, Gorlin
syndrome, and
Gorlin–Goltz
syndrome

Micrograph showing keratocystic

odontogenic tumour, a common finding in
nevoid basal-cell carcinoma syndrome (H&E
stain)
The name Gorlin syndrome refers to the
American oral pathologist and human
geneticist Robert J. Gorlin (1923–2006).[2]
The American dermatologist Robert W.
Goltz (1923–2014)[3] was his co-author,
which is the basis for the term 'Gorlin-
Goltz syndrome'.

First described in 1960 by Gorlin and

Goltz,[4] NBCCS is an autosomal dominant
condition that can cause unusual facial
appearances and a predisposition for
basal-cell carcinoma, a type of skin cancer
which rarely spreads to other parts of the
body. The prevalence is reported to be 1
case per 56,000–164,000 population.
Recent work in molecular genetics has
shown NBCCS to be caused by mutations
in the PTCH (Patched) gene found on
chromosome arm 9q.[5] If a child inherits
the defective gene from either parent, he
or she will have the disorder.

Signs and symptoms

Some or all of the following may be seen
in someone with Gorlin syndrome:

1. Multiple basal-cell carcinomas of the

skin
2. Odontogenic keratocyst: Seen in 75%
of patients and is the most common
finding. There are usually multiple
lesions found in the mandible. They
occur at a young age (19 yrs
average).
3. Rib and vertebrae anomalies
4. Intracranial calcification
5. Skeletal abnormalities: bifid ribs,
kyphoscoliosis, early calcification of
falx cerebri (diagnosed with AP
radiograph)
. Distinct faces: frontal and
temporoparietal bossing,
 hypertelorism, and mandibular
prognathism
7. Bilateral ovarian fibromas
. 10% develop cardiac fibromas

Cause
Mutations in the human homologue of
Drosophila patched (PTCH1), a tumor
suppressor gene on chromosome 9, were
identified as the underlying genetic event
in this syndrome.

Diagnosis
Diagnosis of NBCCS is made by having 2
major criteria or 1 major and 2 minor
criteria. [1]

The major criteria consist of the following:

1. more than 2 BCCs or 1 BCC in a

person younger than 20 years;
2. odontogenic keratocysts of the jaw
3. 3 or more palmar or plantar pits
4. ectopic calcification or early
(<20 years) calcification of the falx
cerebri
5. bifid, fused, or splayed ribs
. first-degree relative with NBCCS.

The minor criteria include the following:

1. macrocephaly.
2. congenital malformations, such as
cleft lip or palate, frontal bossing, eye
anomaly (cataract, coloboma,
microphthalmia, nystagmus).
3. other skeletal abnormalities, such as
Sprengel deformity, pectus deformity,
polydactyly, syndactyly or
hypertelorism.
4. radiologic abnormalities, such as
bridging of the sella turcica, vertebral
anomalies, modeling defects or
flame-shaped lucencies of hands and
feet.
5. ovarian and cardio fibroma or
medulloblastoma (the latter is
 generally found in children below the
age of two).

People with NBCCS need education about

the syndrome, and may need counseling
and support, as coping with the multiple
BCCs and multiple surgeries is often
difficult. They should reduce UV light
exposure, to minimize the risk of BCCs.
They should also be advised that receiving
Radiation therapy for their skin cancers
may be contraindicated. They should look
for symptoms referable to other potentially
involved systems: the CNS, the
genitourinary system, the cardiovascular
system, and dentition.
Genetic counseling is advised for
prospective parents, since one parent with
NBCCS causes a 50% chance that their
child will also be affected.

Treatment
Treatment is usually supportive treatment,
that is, treatment to reduce any symptoms
rather than to cure the condition.

Enucleation of the odontogenic cysts

can help, but new lesions, infections and
jaw deformity are usually a result.
The severity of the basal-cell carcinoma
determines the prognosis for most
 patients. BCCs rarely cause gross
disfigurement, disability or death [2] .
Genetic counseling

Incidence
NBCCS has an incidence of 1 in 50,000 to
150,000 with higher incidence in Australia.
One aspect of NBCCS is that basal-cell
carcinomas will occur on areas of the
body which are not generally exposed to
sunlight, such as the palms and soles of
the feet and lesions may develop at the
base of palmar and plantar pits. One of the
prime features of NBCCS is development
of multiple BCCs at an early age, often in
the teen years. Each person who has this
syndrome is affected to a different degree,
some having many more characteristics of
the condition than others.

See also
List of cutaneous conditions
List of radiographic findings associated
with cutaneous conditions
List of dental abnormalities associated
with cutaneous conditions
List of cutaneous conditions associated
with increased risk of nonmelanoma
skin cancer

References
1. Kimonis V, Goldstein A, Pastakia B, Yang M,
Kase R, DiGiovanna J, Bale A, Bale S (1997).
"Clinical manifestations in 105 persons with
nevoid basal cell carcinoma syndrome" .
Am J Med Genet. 69 (3): 299–308.
doi:10.1002/(SICI)1096-
8628(19970331)69:3<299::AID-
AJMG16>3.0.CO;2-M . PMID 9096761 .
2. Burgdorf W. Robert J. Gorlin (1923 – 2006).
In: Löser C, Plewig G, Hrsg. Pantheon der
Dermatologie. Heidelberg, Springer 2008:
362–366
3. Burgdorf WH, Padilla RS, Hordinsky M. In
memoriam: Robert W. Goltz (1923-2014). J
Am Acad Dermatol 2014; 71: e163–e165
4. Gorlin R, Goltz R (1960). "Multiple nevoid
basal-cell epithelioma, jaw cysts and bifid
 rib. A syndrome". N Engl J Med. 262 (18):
908–12.
doi:10.1056/NEJM196005052621803 .
PMID 13851319 .
5. Johnson R, Rothman A, Xie J, Goodrich L,
Bare J, Bonifas J, Quinn A, Myers R, Cox D,
Epstein E, Scott M (1996). "Human
homolog of patched, a candidate gene for
the basal cell nevus syndrome". Science.
272 (5268): 1668–71.
Bibcode:1996Sci...272.1668J .
doi:10.1126/science.272.5268.1668 .
PMID 8658145 . S2CID 9160210 .

External links
Classification OMIM: 109400 • D

MeSH: D001478 •

DiseasesDB: 5370

External resources MedlinePlus:

001452 •

eMedicine: derm/291

GeneReviews/NCBI/NIH/UW entry on
Nevoid Basal Cell Carcinoma Syndrome
GeneReviews/NCBI/NIH/UW entry on
9q22.3 Microdeletion
US National Library of Medicine page
Retrieved from
"https://en.wikipedia.org/w/index.php?
title=Nevoid_basal-
cell_carcinoma_syndrome&oldid=1013735774"

Last edited 2 months ago by Citation bot

Content is available under CC BY-SA 3.0 unless

otherwise noted.