Basal cell nevus syndrome


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Slide 1 : Basal cell nevus syndrome
Slide 2 : Basal cell nevus syndrome - plantar pits
Slide 3 : Overview Basal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a higher risk of skin cancers.
Slide 4 : Symptoms *Broad nose *Heavy, protruding brow *Jaw that sticks out (in some cases) *Wide-set eyes & Blindness *Brain tumors & Deafness *Defects in the colored part (iris) or lens of the eye *Head swelling due to fluid on the brain (hydrocephalus) *Mental retardation & Seizures *Curvature of the back (scoliosis) *Severe curvature of the back (kyphosis) *Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures *Rib abnormalities
Slide 5 : Basal cell nevus syndrome - face and hand
Slide 6 : Treatment Persons with this condition should be seen and treated by several specialists, depending on what part of the body is affected. For example, a cancer specialist (oncologist) may treat tumors, and an orthopedic surgeon may be needed to help treat bone problems.
Slide 7 : Basal cell nevus syndrome
Slide 8 : Basal cell nevus syndrome - face
Slide 9 : Causes Basal cell nevus syndrome is a rare genetic condition. The gene linked to the syndrome is passed down through families as an autosomal dominant trait. That means you will get the syndrome if either parent passes the gene down to you.
Slide 10 : Tests & diagnosis *Genetic testing (in some patients) *Skin biopsy of tumors *X-rays to check for bone cysts in the jaw, mineral deposits in the brain, and multiple bone abnormalities The person may have a family history of basal cell nevus syndrome and several basal cell skin cancers in the past.Tests that may be done include:
Slide 11 : Prognosis Frequent follow-up with a variety of doctors is vital to achieving a good outcome.
Slide 12 : Prevention Couples with a family history of this syndrome might consider genetic counseling before becoming pregnant. Avoiding the sun and using sunscreen are necessary to help prevent new basal cell skin cancers.Avoid ionizing radiation such as x-rays. People with this condition are very sensitive to radiation, and exposure can lead to skin cancers.
Slide 13 : Complications *Blindness *Brain tumor *Deafness *Ovarian tumors *Skin damage due to skin cancers *Spontaneous fractures
Slide 14 : When to contact a doctor Call for an appointment with your health care provider if you or any family members have basal cell nevus syndrome and you are planning to have a child. Call your provider if you have a child who has symptoms of this condition.

 


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