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    Glossary Gorlin Syndrome

    genetic disorder causing multiple skin cancers and jaw cysts

    Gorlin Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), is a genetic disorder characterized by the development of multiple basal cell carcinomas (a type of skin cancer), jaw cysts, and skeletal abnormalities. It is caused by mutations in the PTCH1 gene, which plays a role in cell growth and development. This syndrome can also lead to other health issues, such as developmental delays and an increased risk of other types of tumors.

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    Research 30 of 234

    1. Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene Journal of Dermatology · 2011 · 1 citations
    2. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    3. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome The Application of Clinical Genetics · 2022 · 2 citations
    4. Inherited disorders of the skin in human and mouse: from development to differentiation. The International Journal of Developmental Biology · 2004 · 25 citations
    5. Experience with sonidegib in patients with advanced basal cell carcinoma: case reports Drugs in Context · 2022 · 9 citations
    6. 139 Anti-BCC efficacy of a topical hedgehog inhibitor without adverse effects in BCNS patients in a phase 2 randomized controlled trial 2018 · 1 citations
    7. 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction Journal of Investigative Dermatology · 2023
    8. BRITISH ASSOCIATION OF DERMATOLOGY. British Journal of Dermatology · 1966
    9. Experiences with Smo antagonist vismodegib for the treatment of locally advanced basal cell carcinoma 2017
    10. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
    11. PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS) Anticancer Research · 2018 · 21 citations
    12. Cardiac flow parameters with conventional and pulsed tissue Doppler echocardiography imaging in patients with polycystic ovary syndrome Gynecological Endocrinology · 2010 · 9 citations
    13. Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature Curēus · 2022 · 1 citations
    14. Post-finasteride syndrome: An emerging clinical problem Neurobiology of Stress · 2019 · 26 citations
    15. The role of the ketogenic diet in managing polycystic ovary syndrome: A comprehensive review Medical Science · 2025
    16. Investigation of the Plausibility of 5-Alpha-Reductase Inhibitor Syndrome Skin appendage disorders · 2016 · 33 citations
    17. Male fertility and skin diseases Reviews in Endocrine and Metabolic Disorders · 2016 · 12 citations
    18. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    19. Dermoscopy — 4th Conference of the Section of Dermoscopy and Other Skin Imaging Techniques (DiTOS) of the Polish Dermatological Society — Abstracts Forum Dermatologicum · 2026
    20. Metabolism and skin diseases Reviews in Endocrine and Metabolic Disorders · 2016 · 8 citations
    21. Polycystic Ovary Syndrome and the Metabolic Syndrome Long-Term Risks Humana Press eBooks · 2008
    22. Endocrine-skin interactions Journal of The American Academy of Dermatology · 1988 · 46 citations
    23. Association Between Premature Hair Greying and Metabolic Risk Factors: A Cross-sectional Study Acta dermato-venereologica · 2018 · 5 citations
    24. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    25. Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature Jaypee's international journal of clinical pediatric dentistry · 2018 · 11 citations
    26. Evidence-based approach to cutaneous hyperandrogenism in women Journal of The American Academy of Dermatology · 2015 · 42 citations
    27. Dermatologic Conditions of the Early Post-Transplant Period in Hematopoietic Stem Cell Transplant Recipients American Journal of Clinical Dermatology · 2018 · 5 citations
    28. The post-finasteride syndrome: possible etiological mechanisms and symptoms International journal of impotence research · 2023 · 3 citations
    29. POST-FINASTERIDE SYNDROME AND POST-SSRI SEXUAL DYSFUNCTION: TWO CLINICAL CONDITIONS APPARENTLY DISTANT, BUT VERY CLOSE Frontiers in Neuroendocrinology · 2023
    30. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations