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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.

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.

 

Symptoms

 

Main symptoms of this disorder are:

  • A type of skin cancer called basal cell carcinoma that develops around the time of puberty
  • A noncancerous tumor of the jaw, called kerotocystic odontogenic tumor that also develops during puberty

Other symptoms include:

  • Broad nose
  • Cleft palate
  • 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
  • Seizures
  • Tumors of the brain

The condition also leads to bone defects, including:

  • Curvature of the back (scoliosis)
  • Severe curvature of the back (kyphosis)
  • 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
  • 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)
  • Rib abnormalities

Tests that may be done include:

  • Echocardiogram of the heart
  • Genetic testing (in some patients)
  • MRI of the brain
  • Skin biopsy of tumors
  • 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.

 
  • Basal cell nevus syndrome - close-up of palm

    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

    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

    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

    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

    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

      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

      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

      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

      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

      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

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for Nevoid basal cell carcinoma syndrome

           

             

            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.

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