Pub Date : 2025-02-01DOI: 10.1016/j.hmedic.2024.100144
Ahmad Jradi , Mohamad Al Qassab , Bachar El Haj Sleiman , Karam Karam , Ihab I. El Hajj , Elias Fiani
Neurofibromatosis Type 1 (NF1), or von Recklinghausen disease, is an autosomal dominant disorder caused by a mutation in the NF1 gene on chromosome 17, leading to neuro-cutaneous manifestations and, in rare cases, visceral involvement. We herein present a rare case of a 16-year-old female with NF1, who presented with persistent gastrointestinal symptoms. Physical examination and imaging revealed a large plexiform neurofibroma in the liver, compressing adjacent organs and causing symptomatic distress. Diagnostic imaging and multidisciplinary evaluation culminated in surgical intervention. Thereafter, we discussed the clinical manifestations, the rare hepatic involvement, diagnostics, and treatments for NF1.
{"title":"An uncanny cause of abdominal pain: A case report of plexiform neurofibromatosis of the liver in a young patient with neurofibromatosis type 1","authors":"Ahmad Jradi , Mohamad Al Qassab , Bachar El Haj Sleiman , Karam Karam , Ihab I. El Hajj , Elias Fiani","doi":"10.1016/j.hmedic.2024.100144","DOIUrl":"10.1016/j.hmedic.2024.100144","url":null,"abstract":"<div><div>Neurofibromatosis Type 1 (NF1), or von Recklinghausen disease, is an autosomal dominant disorder caused by a mutation in the NF1 gene on chromosome 17, leading to neuro-cutaneous manifestations and, in rare cases, visceral involvement. We herein present a rare case of a 16-year-old female with NF1, who presented with persistent gastrointestinal symptoms. Physical examination and imaging revealed a large plexiform neurofibroma in the liver, compressing adjacent organs and causing symptomatic distress. Diagnostic imaging and multidisciplinary evaluation culminated in surgical intervention. Thereafter, we discussed the clinical manifestations, the rare hepatic involvement, diagnostics, and treatments for NF1.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"9 ","pages":"Article 100144"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.hmedic.2024.100145
Ruhus Safa Noor , Md Ismail Gazi , Md Ariful Islam , Md Jobayar Abdien , Tanjina Nasrin , AKM Shamsuddin
Trichotillomania, a condition characterized by compulsive hair-pulling, is recognized as an obsessive-compulsive disorder in the DSM-5. Patients suffering from trichotillomania may develop trichobezoar if not treated early. These hair masses typically form in the stomach, but primary bezoars rarely develop in the small bowel without gastric involvement. This case report presents a 13-year-old girl with a two-month history of abdominal pain, vomiting, and a palpable abdominal mass. History-taking revealed an unusual pattern of scalp hair loss for two years and long familial disharmony. Diagnostic imaging showed a foreign body in the jejunum, which was diagnosed as trichobezoar during laparotomy and was removed surgically. This case emphasizes the need for thorough preoperative evaluation in patients with unexplained gastrointestinal symptoms and the critical importance of early recognition and treatment of trichotillomania to prevent severe complications, such as trichobezoar formation.
{"title":"A neglected case of trichotillomania presenting with jejunal trichobezoar and intestinal obstruction in Bangladesh: A case report","authors":"Ruhus Safa Noor , Md Ismail Gazi , Md Ariful Islam , Md Jobayar Abdien , Tanjina Nasrin , AKM Shamsuddin","doi":"10.1016/j.hmedic.2024.100145","DOIUrl":"10.1016/j.hmedic.2024.100145","url":null,"abstract":"<div><div>Trichotillomania, a condition characterized by compulsive hair-pulling, is recognized as an obsessive-compulsive disorder in the DSM-5. Patients suffering from trichotillomania may develop trichobezoar if not treated early. These hair masses typically form in the stomach, but primary bezoars rarely develop in the small bowel without gastric involvement. This case report presents a 13-year-old girl with a two-month history of abdominal pain, vomiting, and a palpable abdominal mass. History-taking revealed an unusual pattern of scalp hair loss for two years and long familial disharmony. Diagnostic imaging showed a foreign body in the jejunum, which was diagnosed as trichobezoar during laparotomy and was removed surgically. This case emphasizes the need for thorough preoperative evaluation in patients with unexplained gastrointestinal symptoms and the critical importance of early recognition and treatment of trichotillomania to prevent severe complications, such as trichobezoar formation.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"9 ","pages":"Article 100145"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.hmedic.2025.100157
Sikandar Ajmal Abbasi , Muhammad Usama bin Shabbir , Muhammad Soban Bin Salman Meer , Awab-ur-Rehman
"Penile Hair Tourniquet Syndrome" is a rare but potentially severe condition characterized by the constriction of penile tissue by firmly wrapped thread or hair, leading to vascular compromise and tissue damage. This report presents a case of PHTS in a young male child, emphasizing the clinical presentation, diagnostic challenges & management strategies. Early recognition & intervention are critical to avoid complications like necrosis or urethral injury. This case report highlights the importance of considering PHTS in diagnosing penile swelling in children. It highlights the need for increased awareness among caregivers and healthcare providers to ensure early diagnosis and treatment.
{"title":"Hair-thread tourniquet syndrome","authors":"Sikandar Ajmal Abbasi , Muhammad Usama bin Shabbir , Muhammad Soban Bin Salman Meer , Awab-ur-Rehman","doi":"10.1016/j.hmedic.2025.100157","DOIUrl":"10.1016/j.hmedic.2025.100157","url":null,"abstract":"<div><div>\"Penile Hair Tourniquet Syndrome\" is a rare but potentially severe condition characterized by the constriction of penile tissue by firmly wrapped thread or hair, leading to vascular compromise and tissue damage. This report presents a case of PHTS in a young male child, emphasizing the clinical presentation, diagnostic challenges & management strategies. Early recognition & intervention are critical to avoid complications like necrosis or urethral injury. This case report highlights the importance of considering PHTS in diagnosing penile swelling in children. It highlights the need for increased awareness among caregivers and healthcare providers to ensure early diagnosis and treatment.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"9 ","pages":"Article 100157"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-31DOI: 10.1016/j.hmedic.2025.100165
Muhammad Ramish Irfan , Zobia Ishtiaq Abbasi , Asim Mehmood , Usman Baig , Saeeda Yasmin
We report a case drawing attention to a potentially misleading presentation of cutaneous metastasis of breast cancer after modified radical mastectomy as a result of residual disease. The patient presented with as a pruritic rash extending across the chest and back. It was papulovesicular with surrounding well-defined erythema along the suture sites of the reconstructed breast. Initially treated as shingles, the case points to a boxed approach to patients without adequate consideration of pertinent information gathered from their history and examination, analyzed in appropriate context. Clinicians would benefit from refraining from adhering to the typical and being ready to make personalized assessments of their patients. Additionally, consulting colleagues from an educational perspective without breaching patient privacy in matters that pose an atypical challenge may lead to accurate assessments and better overall care. We also emphasize the importance of establishing state-of-the art care standards and better quality-control mechanisms in regions without universal practice guidelines applicable to all institutions.
{"title":"Metastatic breast cancer involving the skin treated as shingles: A case report and call to action","authors":"Muhammad Ramish Irfan , Zobia Ishtiaq Abbasi , Asim Mehmood , Usman Baig , Saeeda Yasmin","doi":"10.1016/j.hmedic.2025.100165","DOIUrl":"10.1016/j.hmedic.2025.100165","url":null,"abstract":"<div><div>We report a case drawing attention to a potentially misleading presentation of cutaneous metastasis of breast cancer after modified radical mastectomy as a result of residual disease. The patient presented with as a pruritic rash extending across the chest and back. It was papulovesicular with surrounding well-defined erythema along the suture sites of the reconstructed breast. Initially treated as shingles, the case points to a boxed approach to patients without adequate consideration of pertinent information gathered from their history and examination, analyzed in appropriate context. Clinicians would benefit from refraining from adhering to the typical and being ready to make personalized assessments of their patients. Additionally, consulting colleagues from an educational perspective without breaching patient privacy in matters that pose an atypical challenge may lead to accurate assessments and better overall care. We also emphasize the importance of establishing state-of-the art care standards and better quality-control mechanisms in regions without universal practice guidelines applicable to all institutions.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"10 ","pages":"Article 100165"},"PeriodicalIF":0.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143377613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-31DOI: 10.1016/j.hmedic.2025.100172
Anindya Chowdhury , Kavya Varshney
Hepatitis B virus infection is a global health challenge with high morbidity and mortality. Hepatitis B virus-associated glomerulonephritis is immune complex glomerulonephritis mediated by deposition of HBsAg and HBV antibody in the glomeruli. Hepatitis B virus infection related kidney disease has wide spectrum of presentation, most commonly presented as membranous nephropathy, membranoproliferative glomerulitis (MPGN), and polyarteritis nodosa. It can also present as mesangial proliferative glomerulonephritis, IgA nephropathy and focal segmental glomerulosclerosis but crescentic glomerulonephritis without cryoglobulinemia is extremely rare. HBV-GN most commonly found in endemic areas among infants and early childhood age. Treatment with antiviral therapy, entecavir, a nucleoside analog and corticosteroids along with widespread use of Hepatitis B vaccination has significantly reduced the incidence of HBV- associated glomerulonephritis.
{"title":"Hepatits-B associated crescentic glomerulonephritis: A rare case report","authors":"Anindya Chowdhury , Kavya Varshney","doi":"10.1016/j.hmedic.2025.100172","DOIUrl":"10.1016/j.hmedic.2025.100172","url":null,"abstract":"<div><div>Hepatitis B virus infection is a global health challenge with high morbidity and mortality. Hepatitis B virus-associated glomerulonephritis is immune complex glomerulonephritis mediated by deposition of HBsAg and HBV antibody in the glomeruli. Hepatitis B virus infection related kidney disease has wide spectrum of presentation, most commonly presented as membranous nephropathy, membranoproliferative glomerulitis (MPGN), and polyarteritis nodosa. It can also present as mesangial proliferative glomerulonephritis, IgA nephropathy and focal segmental glomerulosclerosis but crescentic glomerulonephritis without cryoglobulinemia is extremely rare. HBV-GN most commonly found in endemic areas among infants and early childhood age. Treatment with antiviral therapy, entecavir, a nucleoside analog and corticosteroids along with widespread use of Hepatitis B vaccination has significantly reduced the incidence of HBV- associated glomerulonephritis.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"10 ","pages":"Article 100172"},"PeriodicalIF":0.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143094747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-30DOI: 10.1016/j.hmedic.2025.100173
Majed Ali , Maria Azzi , Mohammad Labban , Karam Karam , Ihab I. El Hajj , Elias Fiani
Celiac disease (CD) is a chronic autoimmune disorder of the small intestine triggered by the ingestion of gluten, a protein found in wheat, barley, and rye. This case illustrates the importance of considering atypical presentations of celiac disease, particularly in patients presenting with hypertensive crises and unexplained symptoms such as anemia and abdominal discomfort. The early recognition of such presentations can prevent delayed diagnosis and further complications.
{"title":"Hypertensive crisis unveils hidden celiac disease: A rare case report","authors":"Majed Ali , Maria Azzi , Mohammad Labban , Karam Karam , Ihab I. El Hajj , Elias Fiani","doi":"10.1016/j.hmedic.2025.100173","DOIUrl":"10.1016/j.hmedic.2025.100173","url":null,"abstract":"<div><div>Celiac disease (CD) is a chronic autoimmune disorder of the small intestine triggered by the ingestion of gluten, a protein found in wheat, barley, and rye. This case illustrates the importance of considering atypical presentations of celiac disease, particularly in patients presenting with hypertensive crises and unexplained symptoms such as anemia and abdominal discomfort. The early recognition of such presentations can prevent delayed diagnosis and further complications.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"10 ","pages":"Article 100173"},"PeriodicalIF":0.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143095189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-29DOI: 10.1016/j.hmedic.2025.100171
Ali Niksirat , Ali Kiaee , Mohadeseh Jafari Sedehi , Fatemeh Abbasi
Background
Inflammatory Bowel Disease (IBD) is associated with an increased risk of malignancies, particularly in patients receiving long-term immunosuppressive therapy. This case report presents a 79-year-old male with a long-standing history of IBD who developed squamous cell carcinoma (SCC) following prolonged use of Azathioprine.
Case presentation
A 79-year-old male with a 20-year history of IBD presented to Shahid Rajaei Hospital in Tonekabon, complaining of abdominal pain and hematochezia. He had been on Azathioprine since the diagnosis of IBD. Five years prior, he developed scalp lesions, which was biopsied and confirmed as SCC. Despite undergoing three surgical interventions to excise the lesions and receiving adjuvant chemotherapy and radiotherapy, the patient exhibited persistent disease without improvement. Recent clinical evaluations revealed recurrent infection and purulent discharge at the surgical site, raising concerns regarding the underlying malignancy.
Discussion
The patient’s history indicates that the development of SCC may be attributed to the long-term immunosuppressive effects of Azathioprine, which can predispose individuals to skin cancers. This case underscores the importance of vigilant monitoring for malignancies in patients on long-term immunosuppressive therapy, particularly those with pre-existing conditions like IBD.
Conclusion
This case highlights the potential complications of long-term Azathioprine use in IBD patients, including the risk of developing SCC. Clinicians should consider alternative management strategies and regular surveillance for skin lesions in similar patient populations to mitigate the risks associated with immunosuppressive therapies.
{"title":"Squamous cell carcinoma in a patient with inflammatory bowel disease: A case report of complications with long-term Azathioprine use","authors":"Ali Niksirat , Ali Kiaee , Mohadeseh Jafari Sedehi , Fatemeh Abbasi","doi":"10.1016/j.hmedic.2025.100171","DOIUrl":"10.1016/j.hmedic.2025.100171","url":null,"abstract":"<div><h3>Background</h3><div>Inflammatory Bowel Disease (IBD) is associated with an increased risk of malignancies, particularly in patients receiving long-term immunosuppressive therapy. This case report presents a 79-year-old male with a long-standing history of IBD who developed squamous cell carcinoma (SCC) following prolonged use of Azathioprine.</div></div><div><h3>Case presentation</h3><div>A 79-year-old male with a 20-year history of IBD presented to Shahid Rajaei Hospital in Tonekabon, complaining of abdominal pain and hematochezia. He had been on Azathioprine since the diagnosis of IBD. Five years prior, he developed scalp lesions, which was biopsied and confirmed as SCC. Despite undergoing three surgical interventions to excise the lesions and receiving adjuvant chemotherapy and radiotherapy, the patient exhibited persistent disease without improvement. Recent clinical evaluations revealed recurrent infection and purulent discharge at the surgical site, raising concerns regarding the underlying malignancy.</div></div><div><h3>Discussion</h3><div>The patient’s history indicates that the development of SCC may be attributed to the long-term immunosuppressive effects of Azathioprine, which can predispose individuals to skin cancers. This case underscores the importance of vigilant monitoring for malignancies in patients on long-term immunosuppressive therapy, particularly those with pre-existing conditions like IBD.</div></div><div><h3>Conclusion</h3><div>This case highlights the potential complications of long-term Azathioprine use in IBD patients, including the risk of developing SCC. Clinicians should consider alternative management strategies and regular surveillance for skin lesions in similar patient populations to mitigate the risks associated with immunosuppressive therapies.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"10 ","pages":"Article 100171"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01DOI: 10.1016/j.hmedic.2024.100139
Faryal Afridi , Tooba Fida , Muhammad Usama Bin Shabbir , Husban Ahmad Halim , Ishwa Ghouri , Muhammad Fawad Ashraf
{"title":"Corrigendum to “Evans syndrome: An uncommon hematological conundrum in a young adult: A case report” [Medical Reports, Volume 8, December 2024, 100121]","authors":"Faryal Afridi , Tooba Fida , Muhammad Usama Bin Shabbir , Husban Ahmad Halim , Ishwa Ghouri , Muhammad Fawad Ashraf","doi":"10.1016/j.hmedic.2024.100139","DOIUrl":"10.1016/j.hmedic.2024.100139","url":null,"abstract":"","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"8 ","pages":"Article 100139"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01DOI: 10.1016/j.hmedic.2024.100141
Tomas Leng , Bowen Song , Benjamin L. Hamel , Matthew Di Giusto , Marc Patterson
Propofol related infusion syndrome is a rare and potentially lethal complication of propofol infusion. The syndrome is clinically characterized by multiorgan failure and brain injury has also been reported. We report the case of symmetric thalami, innominate substance and dentate nuclei involvement with left middle cerebral artery stroke in a five-month-old infant who presented with multiorgan failure concerning for propofol related infusion syndrome.
{"title":"Thalamic and dentate nuclei involvement in an infant with propofol related infusion syndrome: A case report","authors":"Tomas Leng , Bowen Song , Benjamin L. Hamel , Matthew Di Giusto , Marc Patterson","doi":"10.1016/j.hmedic.2024.100141","DOIUrl":"10.1016/j.hmedic.2024.100141","url":null,"abstract":"<div><div>Propofol related infusion syndrome is a rare and potentially lethal complication of propofol infusion. The syndrome is clinically characterized by multiorgan failure and brain injury has also been reported. We report the case of symmetric thalami, innominate substance and dentate nuclei involvement with left middle cerebral artery stroke in a five-month-old infant who presented with multiorgan failure concerning for propofol related infusion syndrome.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"8 ","pages":"Article 100141"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142744830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-17DOI: 10.1016/j.hmedic.2024.100137
Snehanjan Sarangi , Basudev Mahato , Samir Mandal , Shreya S. Saha
Gorlin-Goltz syndrome (GGS), also known as the basal cell nevus syndrome (BCNS), or nevoid basal cell carcinoma syndrome (NBCCS), is a multisystem autosomal dominant disorder, characterized by the presence of numerous odontogenic keratocysts (OKC), along with variable cutaneous, dental, skeletal, muscular, neurological, sexual and ophthalmologic anomalies. Mostly mutation of the patched 1 (PTCH1) gene is responsible, while in a few instances germline mutation of suppressor of fused homolog (SUFU) gene is evident. Timely diagnosis and proper management of the various systemic abnormalities associated with NBCCS, is of utmost significance, owing to its susceptibility towards malignant transformation to basal cell carcinoma (BCC). Herein, we describe GGS in a 22 years old male patient, with relevant diagnostic aspects.
{"title":"Gorlin-Goltz syndrome – Report of a case with review of literature","authors":"Snehanjan Sarangi , Basudev Mahato , Samir Mandal , Shreya S. Saha","doi":"10.1016/j.hmedic.2024.100137","DOIUrl":"10.1016/j.hmedic.2024.100137","url":null,"abstract":"<div><div>Gorlin-Goltz syndrome (GGS), also known as the basal cell nevus syndrome (BCNS), or nevoid basal cell carcinoma syndrome (NBCCS), is a multisystem autosomal dominant disorder, characterized by the presence of numerous odontogenic keratocysts (OKC), along with variable cutaneous, dental, skeletal, muscular, neurological, sexual and ophthalmologic anomalies. Mostly mutation of the patched 1 (PTCH1) gene is responsible, while in a few instances germline mutation of suppressor of fused homolog (SUFU) gene is evident. Timely diagnosis and proper management of the various systemic abnormalities associated with NBCCS, is of utmost significance, owing to its susceptibility towards malignant transformation to basal cell carcinoma (BCC). Herein, we describe GGS in a 22 years old male patient, with relevant diagnostic aspects.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"8 ","pages":"Article 100137"},"PeriodicalIF":0.0,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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