Gorlin Syndrome II

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
0 Views
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Gorlin Syndrome II, also known as Nevoid Basal Cell Carcinoma Syndrome, is a rare genetic condition. People with this syndrome tend to develop multiple basal cell skin cancers, jaw cysts, and other distinctive features.

Types:

  1. Gorlin Syndrome I: This is another variant of the syndrome but with different genetic mutations.
  2. Gorlin Syndrome II: The focus of this guide. It has its unique genetic mutation causing the symptoms.

Causes (Risk Factors):

 It’s mainly due to a genetic mutation, but here are factors that can be considered ’causes’ in a broader sense.

  1. Inherited mutation: Most cases are due to inheriting a faulty gene from a parent.
  2. Random mutation: Sometimes, the mutation happens by chance.
  3. UV radiation: Increases the risk of basal cell carcinoma.
  4. Radiation exposure: Past exposure to radiation can be a factor.
  5. Fair skin: Lighter skin types are more prone to skin cancers.
  6. Age: Older individuals may be at a higher risk.
  7. Gender: Males may be slightly more susceptible.
  8. Family history: Having family members with the condition.
  9. Past skin cancers: Having had skin cancer previously.
  10. Arsenic exposure: Increases skin cancer risk.
  11. Immune-suppressing drugs: Can increase skin cancer risk.
  12. Chronic inflammation: Long-term skin inflammation can be a risk.
  13. Rare genetic disorders: Apart from Gorlin Syndrome II.
  14. Certain skin conditions: Like scars or burns.
  15. Organ transplants: Recipients have a higher risk due to immune-suppressing drugs.
  16. Hormonal changes: Can influence skin growth.
  17. Smoking: Associated with several health risks.
  18. Exposure to certain chemicals: Like parabens or certain industrial chemicals.
  19. Weak immune system: Can’t fight off skin abnormalities effectively.
  20. Chronic exposure to sunlight: Regularly being under the sun for extended periods.

Symptoms:

  1. Multiple basal cell carcinomas: Small, pink or brown, pearly bumps.
  2. Jaw cysts: Lumps in the jaw.
  3. Broad nose: A distinctive facial feature.
  4. Heavy eyebrows: Another facial feature.
  5. Calcification: Hardening of brain tissues.
  6. Rib abnormalities: Like missing or fused ribs.
  7. Spina bifida: A birth defect where the spine doesn’t form properly.
  8. Palmar or plantar pits: Small depressions in the palms or soles.
  9. Eye anomalies: Different eye-related issues.
  10. Medulloblastoma: A type of brain tumor (rare).
  11. Heart defects: Various types of heart abnormalities.
  12. Ovarian fibromas: Non-cancerous tumors on the ovaries.
  13. Cleft lip/palate: A split in the lip or roof of the mouth.
  14. Short stature: Being shorter than average.
  15. Scoliosis: Curvature of the spine.
  16. Hearing loss: Due to internal ear abnormalities.
  17. Delayed tooth eruption: Teeth come in late.
  18. Absent or extra teeth: Less than or more than the usual number of teeth.
  19. Wide-set eyes: Eyes that are spaced wider than average.
  20. Enlarged head: Called macrocephaly.

Diagnostic Tests:

  1. Skin examination: To look for basal cell carcinomas.
  2. Genetic testing: For the specific mutation.
  3. X-ray: To spot jaw cysts or bone anomalies.
  4. MRI: For brain abnormalities.
  5. CT scan: To see detailed images of the body.
  6. Biopsy: Taking a small sample of suspicious skin.
  7. Ophthalmologic exam: Eye tests.
  8. Hearing tests: To check for hearing loss.
  9. Dental X-rays: For tooth and jaw issues.
  10. Echocardiogram: To see heart defects.
  11. Ultrasound: For ovarian fibromas.
  12. Blood tests: To check for related issues.
  13. Physical examination: Checking the overall health and features.
  14. Dermoscopy: Specialized skin examination.
  15. Neurological tests: If brain tumors are suspected.
  16. Electrocardiogram (ECG): For heart anomalies.
  17. Bone density test: If bone abnormalities are suspected.
  18. Developmental assessments: In children, to check for developmental delays.
  19. Skin punch test: Another method to take skin samples.
  20. Family history analysis: To understand the genetic risk.

Treatments:

  1. Surgical removal: Of basal cell carcinomas.
  2. Mohs surgery: Specialized removal of skin cancers.
  3. Radiation therapy: For treating skin cancers.
  4. Curettage and electrodessication: Another method to treat skin tumors.
  5. Laser surgery: Using lasers to remove growths.
  6. Topical treatments: Creams for skin cancers.
  7. Oral medications: Pills targeting skin cancer.
  8. Genetic counseling: To understand and manage the genetic risk.
  9. Regular skin exams: Monitoring skin growths.
  10. Jaw cyst removal: Surgery to take out jaw cysts.
  11. Physical therapy: For spine or bone issues.
  12. Hearing aids: If hearing loss is present.
  13. Vision aids: Glasses or contacts.
  14. Braces: For dental issues.
  15. Pain management: Using various techniques and medicines.
  16. Occupational therapy: To manage daily tasks.
  17. Educational support: For children with developmental delays.
  18. Heart surgeries: To correct heart defects.
  19. Hormone therapies: If needed.
  20. Bone surgeries: To correct rib or spine issues.
  21. Specialized footwear: For foot pits or deformities.
  22. Sun protection measures: To prevent skin damage.
  23. Skin grafts: Replacing damaged skin.
  24. Ovarian fibroma surgeries: Removing tumors from ovaries.
  25. Diet and nutrition counseling: To support overall health.
  26. Skin moisturizers: To manage dry skin.
  27. Avoiding certain triggers: Like excessive sun.
  28. Brain tumor treatments: If they arise.
  29. Emotional and psychological support: Coping with the condition.
  30. Support groups: Connecting with others with the syndrome.

Drugs:

  1. Vismodegib: For advanced basal cell carcinoma.
  2. Sonidegib: Another drug for basal cell carcinoma.
  3. Imiquimod: A topical cream for skin cancers.
  4. Fluorouracil (5-FU): Another skin cancer cream.
  5. Retinoids: For skin issues.
  6. Non-steroidal anti-inflammatory drugs (NSAIDs): For pain.
  7. Corticosteroids: To manage inflammation.
  8. Hearing aids: Devices to amplify sound.
  9. Calcineurin inhibitors: For skin conditions.
  10. Chemotherapy drugs: If required for cancers.
  11. Antibiotics: For infections.
  12. Pain relievers: Over-the-counter and prescribed.
  13. Vitamin D: For bone health.
  14. Bone-modifying medications: If bone density is an issue.
  15. Anti-seizure medications: If neurological issues arise.
  16. Beta-blockers: For heart issues.
  17. Sunscreen: For skin protection.
  18. Moisturizers: For skin care.
  19. Antidepressants: For mental well-being.
  20. Anxiolytics: For anxiety related to the condition.

Gorlin Syndrome II is a complex genetic condition. This guide simplifies it for easy understanding and highlights key points about its causes, symptoms, diagnostics, treatments, and drugs.

 

Disclaimer: Each person’s journey is unique, always seek the advice of a medical professional before trying any treatments to ensure to find the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this page or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.

  1. https://medlineplus.gov/skinconditions.html
  2. https://www.aad.org/about/burden-of-skin-disease
  3. https://www.usa.gov/federal-agencies/national-institute-of-arthritis-musculoskeletal-and-skin-diseases
  4. https://www.cdc.gov/niosh/topics/skin/default.html
  5. https://www.skincancer.org/
  6. https://illnesshacker.com/
  7. https://endinglines.com/
  8. https://www.jaad.org/
  9. https://www.psoriasis.org/about-psoriasis/
  10. https://books.google.com/books?
  11. https://www.niams.nih.gov/health-topics/skin-diseases
  12. https://cms.centerwatch.com/directories/1067-fda-approved-drugs/topic/292-skin-infections-disorders
  13. https://www.fda.gov/files/drugs/published/Acute-Bacterial-Skin-and-Skin-Structure-Infections—Developing-Drugs-for-Treatment.pdf
  14. https://dermnetnz.org/topics
  15. https://www.aaaai.org/conditions-treatments/allergies/skin-allergy
  16. https://www.sciencedirect.com/topics/medicine-and-dentistry/occupational-skin-disease
  17. https://aafa.org/allergies/allergy-symptoms/skin-allergies/
  18. https://www.nibib.nih.gov/
  19. https://rxharun.com/rxharun/rxharun/article-types/skin-care-beauty/skin-diseases-types-symptoms-treatment/
  20. https://www.nei.nih.gov/
  21. https://en.wikipedia.org/wiki/List_of_skin_conditions
  22. https://en.wikipedia.org/?title=List_of_skin_diseases&redirect=no
  23. https://en.wikipedia.org/wiki/Skin_condition
  24. https://oxfordtreatment.com/
  25. https://www.nidcd.nih.gov/health/
  26. https://consumer.ftc.gov/articles/w
  27. https://www.nccih.nih.gov/health
  28. https://catalog.ninds.nih.gov/
  29. https://www.aarda.org/diseaselist/
  30. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets
  31. https://www.nibib.nih.gov/
  32. https://www.nia.nih.gov/health/topics
  33. https://www.nichd.nih.gov/
  34. https://www.nimh.nih.gov/health/topics
  35. https://www.nichd.nih.gov/
  36. https://www.niehs.nih.gov
  37. https://www.nimhd.nih.gov/
  38. https://www.nhlbi.nih.gov/health-topics
  39. https://obssr.od.nih.gov/
  40. https://www.nichd.nih.gov/health/topics
  41. https://rarediseases.info.nih.gov/diseases
  42. https://beta.rarediseases.info.nih.gov/diseases
  43. https://orwh.od.nih.gov/

References

 

You Might Also Like This :

  1. Gorlin Syndrome Gorlin syndrome, also known as Nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder that affects various parts of the body. This article aims to provide simplified explanations of the types, causes, symptoms, diagnostic tests, treatments, and drugs related to Gorlin syndrome. Our goal is to make this complex topic accessible and understandable […]...
  2. Gorlin–Goltz Syndrome Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder that affects various parts of the body. In this article, we will provide simple explanations for key aspects of this syndrome to help you understand it better. We’ll cover the types, causes, symptoms, diagnostic tests, and treatment options, along […]...
  3. Nevoid Basal Cell Carcinoma Syndrome Nevoid Basal Cell Carcinoma Syndrome, often referred to as Gorlin-Goltz Syndrome, is a rare genetic disorder that affects various parts of the body. This article aims to simplify the complex medical jargon and provide plain English explanations for key aspects of the syndrome, including its types, causes, symptoms, diagnostic tests, treatments, and associated drugs. Types […]...
  4. Basal Cell Nevus Syndrome Basal Cell Nevus Syndrome, also known as Gorlin Syndrome, is a rare genetic disorder that affects various parts of the body, primarily the skin, bones, and eyes. In this article, we will provide plain English explanations for its types, causes, symptoms, diagnostic tests, treatments, drugs, and more. Types of Basal Cell Nevus Syndrome Nevoid Basal […]...
  5. What Is Bazex Syndrome? Bazex syndrome, also known as Bazex-Dupré-Christol syndrome, is a rare genetic disorder that affects the skin and other body systems. This condition can cause various symptoms and complications, making it essential to understand its types, causes, symptoms, diagnostic tests, treatment options, and available medications. In this article, we’ll break down Bazex syndrome in plain, simple […]...
  6. Multiple Lentigines Syndrome Multiple Lentigines Syndrome, often known as LEOPARD Syndrome, is a rare genetic disorder causing skin, facial, and heart abnormalities. “Lentigines” refers to multiple small, dark spots on the skin that aren’t raised. Types: LEOPARD Syndrome 1: Resulting from mutations in the PTPN11 gene. LEOPARD Syndrome 2: Resulting from mutations in the RAF1 gene. Causes: Multiple […]...
  7. Bloom-Torre-Machacek Syndrome Bloom-Torre-Machacek Syndrome is a rare genetic disorder that can cause various health problems. In this simplified guide, we’ll break down everything you need to know about this condition in plain English. We’ll cover its types, causes, symptoms, diagnostic tests, treatments, and drugs. This information aims to improve readability, visibility, and accessibility for both patients and […]...
  8. Happle Syndrome Happle syndrome is a rare genetic disorder that can affect the skin, hair, and nails. In this article, we will break down the different types of Happle syndrome, explore its causes, delve into its symptoms, explain diagnostic tests, discuss treatment options, and highlight some medications that can help manage the condition. Types of Happle Syndrome […]...
  9. Niikawa-Kuroki Syndrome Niikawa-Kuroki Syndrome, also known as Cornelia de Lange Syndrome (CdLS), is a rare genetic disorder that affects various aspects of a person’s development. This article aims to provide a clear and simple explanation of what Niikawa-Kuroki Syndrome is, its types, causes, symptoms, diagnostic tests, and available treatments, along with essential drug options. What is Niikawa-Kuroki […]...
  10. Schimmelpenning-Feuerstein-Mims Syndrome Schimmelpenning-Feuerstein-Mims Syndrome (SFMS) is a rare genetic condition that affects multiple parts of the body, leading to various physical and developmental challenges. Schimmelpenning-Feuerstein-Mims Syndrome, often called SFMS for short, is a rare genetic disorder that affects a person’s skin, brain, eyes, and other body parts. This condition can vary in its severity and symptoms from […]...
  11. CHARGE Syndrome Colobomas of the eye-heart defects, also known as CHARGE syndrome, is a rare genetic disorder that affects various parts of the body. This condition can have a significant impact on a person’s health and quality of life. In this article, we will provide simple, easy-to-understand explanations for the key aspects of CHARGE syndrome, including its […]...
  12. Muir-Torre Syndrome Muir-Torre Syndrome, in simple terms, is a rare genetic condition that can lead to various skin tumors and internal cancers. This article aims to break down the complexities surrounding this syndrome, providing straightforward explanations of its types, causes, symptoms, diagnostic tests, treatments, and relevant drugs. Types of Muir-Torre Syndrome: Muir-Torre Syndrome has two primary types: […]...
  13. Bart Syndrome Bart Syndrome is a rare medical condition that affects the kidneys and can lead to various health problems. In this article, we will provide a simple and easy-to-understand explanation of Bart Syndrome, including its types, causes, symptoms, diagnostic tests, treatments, and medications. Types of Bart Syndrome There are two main types of Bart Syndrome: Bartter […]...
  14. EEC Syndrome EEC syndrome, short for Ectrodactyly Ectodermal Dysplasia Clefting syndrome, is a rare genetic disorder that affects various parts of the body. This article aims to provide simple and accessible information about EEC syndrome, including its types, causes, symptoms, diagnostic tests, treatments, and medications. Types of EEC Syndrome EEC syndrome is categorized into three main types: […]...
  15. What Is Bloom Syndrome Bloom syndrome is a rare genetic disorder that can affect various aspects of a person’s health and development. In this article, we’ll break down the complex information about Bloom syndrome into simple, plain English language to make it easier to understand. We’ll cover the types of Bloom syndrome, its causes, symptoms, diagnostic tests, treatments, and […]...

To Get Daily Health Newsletter

We don’t spam! Read our privacy policy for more info.

Terms and Conditions of Use
Privacy Policy
Cookie Policy
Editorial Policy
Advertising Policy
EU User Consent Policy
Correction Policy
Citation Policy
Ethics and Logical Policies
About Us
Contact Us
Newsletter
Career
Sitemap
Advertise with us
Editorial Board Members
Review Board Member
Team RxHarun
Web Developers Team
Guest Posts and Sponsored Posts
Request for Board Member
Women Writers
Download Mobile Apps
Follow us on Social Media
© 2012 - 2025; All rights reserved by authors. Powered by Mediarx International LTD, a subsidiary company of Rx Foundation.
RxHarun
Logo