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Nevoid basal cell carcinoma syndrome
NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome
Nevoid basal cell carcinoma syndrome is a group of defects, passed down through families. The disorder involves the skin, nervous system, eyes, endocrine glands, urinary and reproductive systems, and bones.
Endocrine
Endocrine glands release (secrete) hormones into the bloodstream. The endocrine glands include:AdrenalHypothalamusIslets of Langerhans in the pancrea...
It causes an unusual facial appearance and a higher risk of skin cancers and noncancerous tumors.
Causes
Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH ("patched").
The gene is passed down through families as an autosomal dominant trait. This means you develop the syndrome if either parent passes the gene to you.
Autosomal dominant
Autosomal dominant is one of several ways that a trait or disorder can be passed down (inherited) through families. In an autosomal dominant disease,...
Symptoms
Main symptoms of this disorder are:
-
A type of skin cancer called
basal cell carcinoma
that develops around the time of puberty
Basal cell carcinoma
Basal cell cancer is the most common form of cancer in the United States. Most skin cancers are basal cell cancer. Basal cell cancer is almost alway...
ImageRead Article Now Book Mark Article - A noncancerous tumor of the jaw, called kerotocystic odontogenic tumor that also develops during puberty
Other symptoms include:
- Broad nose
-
Cleft palate
Cleft palate
Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth.
ImageRead Article Now Book Mark Article - Heavy, protruding brow
- Jaw that sticks out (in some cases)
- Wide-set eyes
- Pitting on palms and soles
The condition may affect the nervous system and lead to:
- Blindness
- Deafness
-
Intellectual disability
Intellectual disability
Intellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...
Read Article Now Book Mark Article -
Seizures
Seizures
A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. The term "seizure...
ImageRead Article Now Book Mark Article - Tumors of the brain
The condition also leads to bone defects, including:
-
Curvature of the back (
scoliosis)
Scoliosis)
Scoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...
ImageRead Article Now Book Mark Article -
Severe curvature of the back (
kyphosis
)
Kyphosis
Kyphosis is a curving of the spine that causes a bowing or rounding of the back. This leads to a hunchback or slouching posture.
ImageRead Article Now Book Mark Article - Abnormal ribs
Exams and Tests
There may be a family history of this disorder and a past history of basal cell skin cancers.
Tests may reveal:
-
Brain tumors
Brain tumors
A brain tumor is a group (mass) of abnormal cells that start in the brain. This article focuses on primary brain tumors in children.
ImageRead Article Now Book Mark Article - Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures
- Defects in the colored part (iris) or lens of the eye
-
Head swelling due to fluid on the brain (
hydrocephalus)
Hydrocephalus)
Hydrocephalus is a buildup of fluid inside the skull that leads to brain swelling. Hydrocephalus means "water on the brain. "
ImageRead Article Now Book Mark Article - Rib abnormalities
Tests that may be done include:
-
Echocardiogram
of the heart
Echocardiogram
An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...
ImageRead Article Now Book Mark Article - Genetic testing (in some patients)
-
MRI of the brain
MRI of the brain
A head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...
ImageRead Article Now Book Mark Article -
Skin biopsy
of tumors
Skin biopsy
A skin lesion biopsy is when a small amount of skin is removed so it can be examined. The skin is tested to look for skin conditions or diseases. A...
ImageRead Article Now Book Mark Article - X-rays of the bones, teeth, and skull
- Ultrasound to check for ovarian tumors
Treatment
It is important to get examined by a skin doctor (dermatologist) often, so that skin cancers may be treated while they are still small.
People with this disorder may also be seen and treated by other specialists, depending on which part of the body is affected. For example, a cancer specialist (oncologist) may treat tumors in the body, and an orthopedic surgeon may help treat bone problems.
Outlook (Prognosis)
Frequent follow-up with a variety of specialist doctors is important to having a good outcome.
Possible Complications
Persons with this condition may develop:
- Blindness
- Brain tumor
- Deafness
- Fractures
- Ovarian tumors
- Skin damage and severe scarring due to skin cancers
When to Contact a Medical Professional
Call for an appointment with your health care provider if:
- You or any family members have nevoid basal cell carcinoma syndrome, especially if you are planning to have a child.
- You have a child who has symptoms of this disorder.
Prevention
Couples with a family history of this syndrome might consider genetic counseling before becoming pregnant.
Staying out of the sun and using sunscreen can help prevent new basal cell skin cancers.
Avoid radiation such as x-rays. People with this condition are very sensitive to radiation. Exposure to radiation can lead to skin cancers.
References
Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. GeneReviews. 2015:10. PMID 20301330. www.ncbi.nlm.nih.gov/pubmed/20301330 . Published June 20, 2002. Updated October 1, 2015. Accessed April 29, 2016.
Reutemann P, Peck GL. Nevoid basal cell carcinoma syndrome. In: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson I, eds. Treatment of Skin Disease: Comprehensive Therapeutic Strategies . 4th ed. Philadelphia, PA: Elsevier; 2014:chap 162.
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Basal cell nevus syndrome - close-up of palm - illustration
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas, and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This picture is a close-up of the pits found in the palm of an individual with basal cell nevus syndrome.
Basal cell nevus syndrome - close-up of palm
illustration
-
Basal cell nevus syndrome - plantar pits - illustration
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas (skin cancers). This picture is a close-up of the pits found on the sole of the foot of an individual with basal cell nevus syndrome.
Basal cell nevus syndrome - plantar pits
illustration
-
Basal cell nevus syndrome - face and hand - illustration
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas (a type of skin cancer), and skeletal abnormalities. This individual has multiple flesh-colored, dome-shaped bumps on the face which are basal cell cancers, and palmar pits.
Basal cell nevus syndrome - face and hand
illustration
-
Basal cell nevus syndrome - illustration
Basal cell nevus syndrome is an inherited disorder which inclines the patient to development of multiple basal cell carcinomas, most prevalent for unknown reasons around the eyes and nose. Here they appear as slightly larger than pinpoint papules on the eye lid.
Basal cell nevus syndrome
illustration
-
Basal cell nevus syndrome - face - illustration
The basal cell nevus syndrome has associated with it odontogenic cysts of the jaws, pitted depressions of the hands and feet (tiny basal cells), and osseous anomalies of the skeleton. Care is given by removal of the carcinomata on a regular basis and genetic counseling, since this is an autosomal dominatly inherited disorder.
Basal cell nevus syndrome - face
illustration
-
Basal cell nevus syndrome - close-up of palm - illustration
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas, and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This picture is a close-up of the pits found in the palm of an individual with basal cell nevus syndrome.
Basal cell nevus syndrome - close-up of palm
illustration
-
Basal cell nevus syndrome - plantar pits - illustration
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas (skin cancers). This picture is a close-up of the pits found on the sole of the foot of an individual with basal cell nevus syndrome.
Basal cell nevus syndrome - plantar pits
illustration
-
Basal cell nevus syndrome - face and hand - illustration
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas (a type of skin cancer), and skeletal abnormalities. This individual has multiple flesh-colored, dome-shaped bumps on the face which are basal cell cancers, and palmar pits.
Basal cell nevus syndrome - face and hand
illustration
-
Basal cell nevus syndrome - illustration
Basal cell nevus syndrome is an inherited disorder which inclines the patient to development of multiple basal cell carcinomas, most prevalent for unknown reasons around the eyes and nose. Here they appear as slightly larger than pinpoint papules on the eye lid.
Basal cell nevus syndrome
illustration
-
Basal cell nevus syndrome - face - illustration
The basal cell nevus syndrome has associated with it odontogenic cysts of the jaws, pitted depressions of the hands and feet (tiny basal cells), and osseous anomalies of the skeleton. Care is given by removal of the carcinomata on a regular basis and genetic counseling, since this is an autosomal dominatly inherited disorder.
Basal cell nevus syndrome - face
illustration
Review Date: 4/29/2016
Reviewed By: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
