{"id":11419,"date":"2025-07-26T19:58:09","date_gmt":"2025-07-26T17:58:09","guid":{"rendered":"https:\/\/valintermed.com\/?p=11419"},"modified":"2025-07-26T19:58:09","modified_gmt":"2025-07-26T17:58:09","slug":"sindrom-gorlina-choudri-mossa","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/","title":{"rendered":"Gorlin-Chaudhry-Moss syndrome"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Gorlin-Chaudhry-Moss syndrome (GCM syndrome) is a genetic disorder that belongs to a group of disorders associated with DNA repair system failures, observed in patients both in the case of hereditary predisposition and spontaneous mutations. The main mechanism of action of the syndrome is associated with excessive activity of pathogenetic processes, which leads to the formation of various tumors, primarily basal cell carcinomas of the skin, as well as possible defects in the development of facial structures, pathologies in the skeletal system and other organs. GCM syndrome is often diagnosed at a young age and may be associated with an increased risk of developing certain carcinomas.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/gorlina-choudri-mossa-syndrome\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The first mention of Gorlin syndrome occurred in 1894, when American dermatologist Robert Gorlin described signs characteristic of basal cell carcinoma and some facial skeletal abnormalities in young patients. In the 1960s, the study was continued, and a link was established between these characteristics and inherited genetic factors. Over time, the syndrome began to attract increasing interest in medical circles, which contributed to the identification of new clinical and molecular aspects of the disease. Important contributions to the study of the disease were made by scientists such as Choudhry and Moss, who revealed the link between the syndrome and mutations in the PTCH gene, which provided extensive opportunities for further research and understanding of the molecular pathogenesis of the disease.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>According to epidemiological studies, Gorlin-Chaudhry-Moss syndrome occurs with a frequency of approximately 1 in 57,000 births. The disease is observed in both males and females, although males may have more pronounced phenotypic symptoms. The disease is rare, but higher prevalence rates may be recorded in some populations. An &quot;underdiagnosis&quot; effect also exists, making the true figures likely higher than those reported. To some extent, the syndrome may be underdiscovered in some countries due to insufficient awareness of specialists.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Gorlin-Chaudhry-Moss syndrome has a clear genetic predisposition associated with mutations in the PTCH1 gene on chromosome 9q22.3. This gene encodes a protein that plays a key role in the Hedgehog pathway signaling responsible for cell proliferation and differentiation. Pathogenic mutations in this gene lead to dysregulation of the cell cycle and an increased risk of neoplastic transformation. In addition to PTCH1, some patients may also have mutations in the SUFU and PTCH2 genes, which may contribute to the clinical picture of the syndrome. Genetic testing is a tool to confirm the diagnosis and trace the family.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The risk of developing Gorlin-Chaudhry-Moss syndrome increases with a family history of the disease. This is due to the autosomal dominant mechanism of inheritance. I would also like to note the following factors that predispose it:<\/p>\n<ul>\n<li>Heredity: presence of parents with this mutation;<\/li>\n<li>Parental age: increased risk in mothers over 35 years of age;<\/li>\n<li>Etiological factors: exposure to certain chemicals and radiation.<\/li>\n<li>Solar irradiation: extremes of exposure to ultraviolet radiation background, which play a role in modulating cellular metabolism.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Diagnosis of Gorlin-Chaudhry-Moss syndrome is based on a combination of clinical manifestations and molecular genetic technologies. The main symptoms include multiple basal cell carcinomas, cysts, dental defects, and facial abnormalities. Laboratory tests may include blood tests to detect mutations in genes associated with the disease. Radiological tests, such as X-rays and MRIs, are used to detect abnormalities in bone structure, especially in the skull and jaw. Differential diagnosis should be made with other inherited syndromes, such as Li-Fraumeni syndrome or Costen syndrome.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment of Gorlin-Chaudhry-Moss syndrome is multi-stage and includes several areas. General therapy involves regular monitoring of the patient&#039;s condition and early detection of tumors. Surgery is used to remove basal cell carcinomas and other formations. Pharmacological treatment may include the use of Hedgehog inhibitors, such as Vismed (Sonidogib), which can significantly reduce the development and progression of tumors. Other treatments may include photodynamic therapy and cryotherapy for the treatment of small skin lesions.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>Sonidogib (vismed);<\/li>\n<li>Ketoconazole (an antifungal drug with antitumor properties);<\/li>\n<li>Creams with 5-fluorouracil;<\/li>\n<li>Hedgehog channel inhibitors;<\/li>\n<li>Medicines for pain syndrome therapy.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Monitoring of patients with HCM syndrome includes regular examinations by a dermatologist, oncologist and dentist for early detection of tumors and dental anomalies. Health monitoring is carried out through annual examinations and imaging. The prognosis for patients with the syndrome is generally favorable, provided that diagnosis and treatment are timely. However, it should be noted that there is a high risk of developing secondary tumors, special attention should be paid to possible complications associated with damage to various body systems.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Gorlin-Chaudry-Moss syndrome can manifest at various ages, but most often symptoms begin in childhood or adolescence. In young children, multiple cysts are typical, while in adolescents and adults, a high incidence of basal cell carcinomas may be observed. In older people, attention is paid to prevention and early diagnosis, since the risk of tumor growth and progression increases.<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of Gorlin-Chaudhry-Moss syndrome?<\/strong> Symptoms include multiple basal cell carcinomas of the skin, cysts in the skin and facial structure, dental defects and skeletal abnormalities.<\/li>\n<li><strong>How is the disease diagnosed?<\/strong> Diagnosis is made through clinical examinations, laboratory tests to detect mutations, and radiological examination.<\/li>\n<li><strong>What treatment is recommended for patients with the syndrome?<\/strong> Treatment includes surgical removal of the lesions, use of Hedgehog inhibitors and regular monitoring of the skin condition.<\/li>\n<li><strong>What is the prognosis for patients with HCM syndrome?<\/strong> The prognosis is generally good with regular examination and early treatment, but there is a risk of developing secondary tumors.<\/li>\n<li><strong>Are genetic tests available to check for the syndrome?<\/strong> Yes, genetic tests are available to detect mutations in the PTCH1 gene and other related genes.<\/li>\n<\/ul>\n<p>Advice from Dr. Oleg Korzhikov on this disease: \u201cIt is important to remember about regular medical examinations with specialists, since early detection of anomalies can significantly improve the prognosis. It is important for me that patients understand that following the rules of sun protection and monitoring the condition of the skin can reduce the risk of new formations. Proper oral hygiene also plays a significant role in preventing dental anomalies. Try to visit the dentist at least twice a year.\u201d<\/p>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Gorlin-Chaudhry-Moss syndrome (GCM syndrome) is a genetic disorder that belongs to a group of disorders associated with defects in the DNA repair system, observed<\/p>","protected":false},"author":1,"featured_media":18556,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-11419","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11419","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=11419"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11419\/revisions"}],"predecessor-version":[{"id":15796,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11419\/revisions\/15796"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/18556"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=11419"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=11419"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=11419"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}