Wednesday, 11 July 2018

Gorlin syndrome, nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome

It «is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. (...). Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. (...). Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. (...). Most people with Gorlin syndrome also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors (...). Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumors. A small proportion of affected individuals develop a brain tumor called medulloblastoma during childhood. A type of benign tumor called a fibroma can occur in the heart or in a woman's ovaries (...). Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull [1].» «Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years [2].»
Mutations in the PTCH1 (protein patched homolog 1) gene cause Gorlin syndrome [1,3]. This protein «is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor. The PTCH1 gene product is a transmembrane protein that suppresses the release of another protein called smoothened, and when sonic hedgehog binds PTCH1, smoothened is released and signals cell proliferation [3].» «The characteristic features of Gorlin syndrome can also be associated with a chromosomal change called a 9q22.3 microdeletion, in which a small piece of chromosome 9 is deleted in each cell. This deletion includes the segment of chromosome 9 that contains the PTCH1 gene [1].
«Gorlin syndrome is inherited in an autosomal dominant pattern [1].»
«Life expectancy (...) is not significantly different from average [2].»
These patients have a relative contraindication for radiotherapy [4].
Bibliographic reference:
[1] Gorlin syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/gorlin-syndrome#genes. Published 2018. Accessed July 11, 2018.
[2] Evans DG, Farndon PA. Gorlin syndrome - Conditions - GTR - NCBI. Ncbi.nlm.nih.gov. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0004779/. Accessed July 11, 2018.
[3] PTCH1. En.wikipedia.org. https://en.wikipedia.org/wiki/PTCH1. Published 2017. Accessed July 11, 2018.
[4] Singer L, Yom SS. Chapter 1 - Skin Cancer. In: Hansen EK, Roach III M. Handbook Of Evidence-Based Radiation Oncology. 3rd ed. Cham, Switzerland: Springer; 2018:10. Available at: https://doi.org/10.1007/978-3-319-62642-0.

2 comments:

  1. God bless Dr. USELU for his marvelous work in my life, I was diagnosed of HERPES SIMPLEX VIRUS since 2018 and I was taking my medications, I wasn't satisfied i needed to get the HERPES out of my system, I searched about some possible cure for HERPES i saw a comment about Dr. USELU , how he cured HERPES with his herbal medicine, I contacted him and he guided me. I asked for solutions, he started the remedy for my health, he sent me the medicine within 3 days. I took the medicine as prescribed by him and 2 weeks later i was cured from HERPES contact him via email (dr.uselucaregiver@gmail.com) once again thanks to you Dr. USELU cure the flowing virus, contact his email or add him on whatsapp (+2349019328641) cancer cure
    diabetes cure
    ringing ear
    herpes cure
    warts cure
    HPV cure
    HIV cure
    get your ex back
    pregnancy herbal medicine
    Hepatitis    

    ReplyDelete
  2. Do You Need A Powerful Africa Native Doctor? I Mean A Spiritual Herbalist
    With Great Spirit Connected To Ancestors. Call or WhatsApp +2349058774809 Dr Obodubu Monday Is A High Voodoo Priest Master. He is a Spell Caster, Native
    Doctor, Spiritual Herbalist, Powerful Sickle cell Healer, Spiritual
    Astrologer, Psychic Reader, Multi Guru, Witch Doctor, Priest Of Africa
    Money Ritual.
    Have You Been To Native Doctor to Native Doctor Without Any Solution To
    Your Problems Or Rather Add To it? Have You Been To Place To Place In View
    Of A Powerful Native Doctor That Can Solve All Your Predicament, You Must
    Understand That There Is A Native Doctor That Supersede All Native Doctor
    Among All Native Doctor, If You Are In Search Of A Powerful Native Doctor
    With Great Spiritual Powers, Then You Must Be In Search Of A Native Doctor
    That Derives Power From The Marine World. That Is The Spirituality Of The
    Greatest Africa Native Doctor Obodubu.
    Dr Obodubu Is Recognized All Over The World Of Marine Kingdom, As One
    Of The Top Fortunate And Most Powerful Native Doctor Of Charms Casts From
    The Beginning Of His Ancestors ship Until Now Dr who lives Strong
    Among All Other Native Doctors, There Have Never Been Any Form Of
    Impossibility Beyond The Control Of Dr Obodubu. It Doesn't Matter The
    Distance Of The Person With The Problems Or Situation, All You Have To Do
    Is Believe
    In The Native Obodubu charms Casts That Works, He Always
    Warns Never To Get His Charms Casts If You Do Not Believe Or Unable To
    Follow His Instruction.
    It Is The Assignment Of The Native Doctor Obodubu To Offer
    Services To Those In Need Of Spiritual Assistance Not Minding The Gravity
    Of Your Situations Or Distance As Long As Water, Sea, Ocean, Lake, River
    Sand etc. Are Near You, Then Your Problems Of Life Would Be Controlled
    Under Your Foot.
    If You Need Any Spiritual Help On Any of These:
    Get Your Lover Back
    Fruit Of The Womb
    Fibroid
    Business Boom
    Financial Breakthrough
    Get Rich Without Ritual WhatsApp +2349058774809
    Do As I Say
    Bad Dream
    Promise And Fail
    Epilepsy
    Spiritual Attack
    Land/Court Case
    Mental Disorder
    Political Appointment
    Visa Approval
    Cancer
    Examination Success
    Spend And Get Back
    Good Luck
    Natural Health
    Hypertension
    Diabesity (Diabetic+Obesity
    Stroke
    Sickle Cell
    Impotency
    Win Court Case
    Promotion At Work
    Commanding Tone
    Protection Ring
    Marriage Success
    Love Ring
    Favour Ring
    Recover Lost Glory
    Spiritual Power For Men Of God
    Travel Success Ring
    Job Success
    Lotto/Pool Win And Many More.
    Make Haste To Call or WhatsApp Dr Obodubu Monday +2349058774809. Or Mail Him to
    babadoctorobodubuspiritualhome@gmail.com For Spiritual Problem Today And
    You Will Surely
    Get Solution To All Your Predicament.
    Email: babadoctorobodubuspiritualhome@gmail.com

    ReplyDelete