BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuNevoid basal cell carcinoma syndromeNBCC syndrome; Gorlin syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome (BCNS); Basal cell cancer - nevoid basal cell carcinoma syndromeNevoid 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.EndocrineEndocrine glands release (secrete) hormones into the bloodstream. The endocrine glands include:AdrenalHypothalamusIslets of Langerhans in the pancrea...ImageRead Article Now Book Mark Article It causes an unusual facial appearance and a higher risk for skin cancers and noncancerous tumors. Causes Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The main gene linked to the syndrome is known as PTCH ("patched"). A second gene, called SUFU, has also been associated with this condition.Abnormalities in these genes are most commonly passed down through families as an autosomal dominant trait. This means you develop the syndrome if either parent passes the gene to you. If either of your parents has this syndrome, you have a 50 percent chance of having it. It is also possible to develop this gene defect with no family history.Autosomal dominantAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article 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 carcinomaBasal cell cancer is the most common form of cancer in the United States. Most skin cancers are basal cell cancer. Other common types of skin cancer...ImageRead Article Now Book Mark Article A noncancerous tumor of the jaw, called kerotocystic odontogenic tumor that also develops during pubertyOther symptoms include:Broad nose Cleft palate Cleft palateCleft 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 solesThe condition may affect the nervous system and lead to:Eye problems Deafness Intellectual disability Intellectual disabilityIntellectual 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 SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Tumors of the brainThe 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) KyphosisKyphosis 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 tumorsA brain tumor is a group (mass) of abnormal cells that grow 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 the brain pushing against the skull. Hydrocephalus means "water on the brain. "...ImageRead Article Now Book Mark Article Rib abnormalitiesTests that may be done include:Echocardiogram of the heart EchocardiogramAn 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 brainA 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 biopsyA skin lesion biopsy is when a small amount of skin is removed so it can be examined under a microscope. The skin is tested to look for skin conditi...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 for having a good outcome. Possible Complications People with this condition may develop:Blindness Brain tumor Deafness Fractures Ovarian tumors Cardiac fibromas Skin damage and severe scarring due to skin cancers When to Contact a Medical Professional Contact your health care provider for an appointment 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.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article 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.Open ReferencesReferencesEpstein EH. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). In: Lebwohl MG, Heymann WR, Coulson IH, Murrell DF, eds. Treatment of Skin Disease: Comprehensive Therapeutic Strategies. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 170.Hirner JP, Martin KL. Tumors of the skin. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 690.Walsh MF, Cadoo K, Salo-Mullen EE, Dubard-Gault M, Stadler ZK, Offit K. Genetic factors: hereditary cancer predisposition syndromes. In: Niederhuber JE, Armitage JO, Kastan MB, Doroshow JH, Tepper JE, eds. Abeloff's Clinical Oncology. 6th ed. Philadelphia, PA: Elsevier; 2020:chap 13.AllVideoImagesTogBasal 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 palmillustrationBasal 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 pitsillustrationBasal 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 handillustrationBasal 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 syndromeillustrationBasal 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 dominantly inherited disorder.Basal cell nevus syndrome - faceillustrationBasal 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 palmillustrationBasal 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 pitsillustrationBasal 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 handillustrationBasal 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 syndromeillustrationBasal 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 dominantly inherited disorder.Basal cell nevus syndrome - faceillustrationRelated Information Endocrine glands(Special Topic)Cancer(Condition)Basal cell skin cancer(Condition)Hydrocephalus(Condition)Seizures(Symptoms)Intellectual disability(Condition)Brain tumor - children(Condition)Cyst(Symptoms)Scoliosis(Condition)Kyphosis(Condition)Brain tumors - primary - InDepth(In-Depth)Scoliosis - InDepth(In-Depth) Review Date: 5/31/2022 Reviewed By: Elika Hoss, MD, Assistant Professor of Dermatology, Mayo Clinic, Scottsdale, AZ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Nevoid basal cell carcinoma syndromeNBCC syndrome; Gorlin syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome (BCNS); Basal cell cancer - nevoid basal cell carcinoma syndromeNevoid 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.EndocrineEndocrine glands release (secrete) hormones into the bloodstream. The endocrine glands include:AdrenalHypothalamusIslets of Langerhans in the pancrea...ImageRead Article Now Book Mark Article It causes an unusual facial appearance and a higher risk for skin cancers and noncancerous tumors. Causes Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The main gene linked to the syndrome is known as PTCH ("patched"). A second gene, called SUFU, has also been associated with this condition.Abnormalities in these genes are most commonly passed down through families as an autosomal dominant trait. This means you develop the syndrome if either parent passes the gene to you. If either of your parents has this syndrome, you have a 50 percent chance of having it. It is also possible to develop this gene defect with no family history.Autosomal dominantAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article 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 carcinomaBasal cell cancer is the most common form of cancer in the United States. Most skin cancers are basal cell cancer. Other common types of skin cancer...ImageRead Article Now Book Mark Article A noncancerous tumor of the jaw, called kerotocystic odontogenic tumor that also develops during pubertyOther symptoms include:Broad nose Cleft palate Cleft palateCleft 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 solesThe condition may affect the nervous system and lead to:Eye problems Deafness Intellectual disability Intellectual disabilityIntellectual 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 SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Tumors of the brainThe 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) KyphosisKyphosis 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 tumorsA brain tumor is a group (mass) of abnormal cells that grow 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 the brain pushing against the skull. Hydrocephalus means "water on the brain. "...ImageRead Article Now Book Mark Article Rib abnormalitiesTests that may be done include:Echocardiogram of the heart EchocardiogramAn 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 brainA 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 biopsyA skin lesion biopsy is when a small amount of skin is removed so it can be examined under a microscope. The skin is tested to look for skin conditi...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 for having a good outcome. Possible Complications People with this condition may develop:Blindness Brain tumor Deafness Fractures Ovarian tumors Cardiac fibromas Skin damage and severe scarring due to skin cancers When to Contact a Medical Professional Contact your health care provider for an appointment 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.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article 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.Open ReferencesReferencesEpstein EH. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). In: Lebwohl MG, Heymann WR, Coulson IH, Murrell DF, eds. Treatment of Skin Disease: Comprehensive Therapeutic Strategies. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 170.Hirner JP, Martin KL. Tumors of the skin. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 690.Walsh MF, Cadoo K, Salo-Mullen EE, Dubard-Gault M, Stadler ZK, Offit K. Genetic factors: hereditary cancer predisposition syndromes. In: Niederhuber JE, Armitage JO, Kastan MB, Doroshow JH, Tepper JE, eds. Abeloff's Clinical Oncology. 6th ed. Philadelphia, PA: Elsevier; 2020:chap 13.