BCCNS (Gorlin Syndrome) Patient Survey

If you have BCCNS, please help us understand more about the disorder by filling out this survey. Your personal data (name, address, e-mail, etc.) will be kept confidential, although we reserve the right to contact you if you desire. Thank you very much for your participation.

Your Contact Information

Name
Address
 
City, State, Postal Code
Country
Phone Number
E-mail Address
Please contact me with more information about Basal Cell Carcinoma Nevus Syndrome and the BCCNS Life Support Network.

Gender:  Male  Female 

What year were you diagnosed with BCCNS? 

How old were you at that time? 

How old are you now? 

Is there a history of BCCNS in your family?  Yes  No

If yes, how many people show symptoms and how are they related to you?

Have you had any Basal Cell Carcinomas?  Yes  No

If yes, approximately how many, and on what part(s) of your body?

Symptoms

Indicate if you have had any of the following symptoms. If yes, then indicate the age when the symptom first occurred or when you first noticed it. You can find definitions or clarification about many of the symptoms here.

Major Signs

Yes No
Age:
Jaw Cysts: Keratocystic odontogenic tumors (KCOTs) or odontogenic keratocysts (OKCs) - cyst-like tumors that form in the jaws.
Yes No
Age:
Medulloblastoma: A malignant brain tumor that usually forms during early childhood.
Yes No
Age:
Palmar Pits: Small pits in the skin on the palms of the hands.
Yes No
Age:
Plantar pits: Small pits in the skin on the soles of the feet.
Yes No
Age:
Abnormal Ribs: Ribs that grow in abnormal ways - splitting (bifid), fusing, or splaying.
Yes No
Age:
Fused vertebrae: Abnormally joined bones in the spine.
Yes No
Age:
Calcification of the dura mater: Hardening of various folds in the membrane that surrounds the brain (e.g., the falx cerebri or the sellar diaphragm; this usually shows up on medical scans).
Yes No
Age:
Excessive Skin Tags: Tag-like growths that form on the skin.
Yes No
Age:
Ovarian fibroma: A tumor that forms in or on the ovary.

Facial Symptoms

Yes No
Age:
Cleft Lip/Palate: A fissure in the lip, hard palate, or soft palate of the mouth. Present at birth.
Yes No
Age:
Frontal Bossing: Prominent forehead, often accompanied by “glaring” eyebrows (synophrys).
Yes No
Age:
Hydrocephalus: An increase in the amount or pressure of fluid in the cranial cavity.
Yes No
Age:
Hypertelorism: Wide-set eyes.
Yes No
Age:
Prognathism: A prominent upper or lower jaw, resulting in an over- or underbite.

Eye Symptoms

Yes No
Age:
Cataracts: A clouding of the lens of the eye or of its surrounding transparent membrane, resulting in dim vision and eventual blindness.
Yes No
Age:
Chalazion: A stye-like cyst in the eyelid, caused by inflamed glands. Sometimes leads to blepharitis (chronic eye irritation).
Yes No
Age:
Coloboma: A hole in one of the structures of the eye (iris, eyelid, retina, etc.).
Yes No
Age:
Corneal Opacity: A dimming of the cornea (the clear, hard covering of the pupil).
Yes No
Age:
Glaucoma: A disease of the eye marked by increased pressure within the eyeball.
Yes No
Age:
Nystagmus: Involuntary “wandering” of one eye.
Yes No
Age:
Strabismus: Improper alignment of the eyes (not pointing at the same spot).

Skeletal Symptoms

Yes No
Age:
Kyphosis: Improper forward curve of the spine, usually showing as a “slump” or hunched back.
Yes No
Age:
Pectus: A sunken, or protruding, rib cage.
Yes No
Age:
Polydactyly: An extra finger or toe.
Yes No
Age:
Scoliosis: An improper side-to-side curve in the spine.
Yes No
Age:
Short Metacarpals: The bone between the wrist and first knuckle of the hand. The fourth metacarpal is sometimes shorter for patients with BCCNS.
Yes No
Age:
Spina bifida: Incomplete closure of the bones of the spine, leaving the spinal cord exposed.
Yes No
Age:
Spontaneous fractures: Bone fractures without any apparent cause.
Yes No
Age:
Sprengel deformity: Uneven, misaligned shoulderblades.
Yes No
Age:
Syndactyly: Fused fingers or toes.
Yes No
Age:
Other Skeletal anomalies: Miscellaneous abnormalities of the skeleton, such as a lumbarized sacrum, bilateral hyperplasia of the coronoid process, etc.

Tumors

Yes No
Age:
Brain tumors: Brain tumors other than medulloblastoma (already listed above).
Yes No
Age:
Cardiac tumors: Tumors that form in or around the heart.
Yes No
Age:
Colorectal polyps: Benign or malignant bulging growths from the lining of the colon (large intestine).
Yes No
Age:
Hamartoma: Cysts that form on or in the bone, showing up as “flame-like” lesions on X-ray graphics.
Yes No
Age:
Mesenteric cysts: Cysts that form in the lining of the intestine, often filled with chyle (a mixture of lymph and fat).
Yes No
Age:
Pulmonary Metastasis: The spread of cancer cells (that originated elsewhere in the body) to the lungs.
Yes No
Age:
Sarcoma: A rare cancer that forms in connective tissue (bone or cartilage) or soft tissue (muscle, tendons, or fat).
Yes No
Age:
Stomach polyps: Benign or malignant bulging growths from the lining of the stomach.
Yes No
Age:
Other tumors: Any other tumors, benign or malignant, that you may have developed. Please include where the tumor was located:

Other Symptoms

Yes No
Age:
Anosmia: Inability to smell or sense odors.
Yes No
Age:
Blindness: Loss of vision.
Yes No
Age:
Calcifying skin: Calcium deposits that make patches of the skin seem hardened or tough.
Yes No
Age:
Deafness: Loss of hearing.
Yes No
Age:
Hypothyroidism: Deficient thyroid hormone, evidenced by fatigue, poor muscle tone, goiter, brittle hair and nails, low heart rate, constipation, and depression.
Yes No
Age:
Hyperparathyroidism: Excess parathyroid hormone, evidenced by osteoporosis, fatigue, depression, decreased appetite, nausea, and kidney stones.
Yes No
Age:
Kidney anomalies: Misshapen, misaligned, or missing kidneys.
Yes No
Age:
Seizures (Paroxysm): Abnormal activity in the brain that often results in convulsions, fainting, tachycardia (increased heart rate), or sudden fear or confusion. May be related to epilepsy.

Please list any other symptoms that you have, which have been pathologically proven to be related to BCCNS.

Please list any other health problems you may have, and when they were diagnosed.

We appreciate any additional comments that you would care to make.

 
 

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DISCLAIMER: The content on this site is for informational purposes only. It is no substitute for professional medical advice, diagnosis, or treatment.
Reliance on any information provided on the site is at your own risk. Always seek the advice of a qualified health care provider with any questions you may have about your condition.