Rare disease

24 Apr 2023 : Case report
An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome
Christoforos S. Kosmidis, Christina Michael, Chrysi Maria Mystakidou, Vasiliki Theodorou, Evanthia Papadopoulou, Konstantina Papadopoulou, Charilaos Koulouris, Nikolaos Varsamis, Georgios Koimtzis
, Panagiota Roullia, Marios Ntager, Christina Sevva
, Nikolaos Iason Katsios, Ioannis Charalampous, Katerina Zarampouka, Sofia Baka
DOI: 10.12659/AJCR.939117
Am J Case Rep 2023; 24:e939117
3,178 3,475 0

24 Apr 2023 : Case report
An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome
Christoforos S. Kosmidis, Christina Michael, Chrysi Maria Mystakidou, Vasiliki Theodorou, Evanthia Papadopoulou, Konstantina Papadopoulou, Charilaos Koulouris, Nikolaos Varsamis, Georgios Koimtzis
, Panagiota Roullia, Marios Ntager, Christina Sevva
, Nikolaos Iason Katsios, Ioannis Charalampous, Katerina Zarampouka, Sofia Baka
DOI: 10.12659/AJCR.939117
Am J Case Rep 2023; 24:e939117
3178 3475 0

24 Apr 2023 : Case report
Jessner’s Lymphocytic Infiltration of the Skin in a 73-Year-Old Woman: A Case Report
Carmen Elena Sánchez, María del Carmen Cabezas, Silvana Narváez, Henry Jaramillo, Camila Miño
DOI: 10.12659/AJCR.938969
Am J Case Rep 2023; 24:e938969
3,259 4,502 0

24 Apr 2023 : Case report
Jessner’s Lymphocytic Infiltration of the Skin in a 73-Year-Old Woman: A Case Report
Carmen Elena Sánchez, María del Carmen Cabezas, Silvana Narváez, Henry Jaramillo, Camila Miño
DOI: 10.12659/AJCR.938969
Am J Case Rep 2023; 24:e938969
3259 4502 0

23 Apr 2023 : Case report
Kidney Transplantation from a Deceased Donor with COVID-19 Ad26.COV2-S Vaccine-Induced Thrombotic Thrombocytopenia
Ivan Neretljak, Franjo Jurenec, Hrvoje Smojver, Zeljka Jurekovic
DOI: 10.12659/AJCR.938730
Am J Case Rep 2023; 24:e938730
3,282 2,440 0

23 Apr 2023 : Case report
Kidney Transplantation from a Deceased Donor with COVID-19 Ad26.COV2-S Vaccine-Induced Thrombotic Thrombocytopenia
Ivan Neretljak, Franjo Jurenec, Hrvoje Smojver, Zeljka Jurekovic
DOI: 10.12659/AJCR.938730
Am J Case Rep 2023; 24:e938730
3282 2440 0

22 Apr 2023 : Case report
Classical Presentation of Disseminated Blastomycosis in a 44-Year-Old Healthy Man 3 Months After Diagnosis of COVID-19
Diana Fan, Ali Ahmad
, Jared Frisby, Kavita Darji, Ashley Ojeaga, Ramona Behshad, M. Yadira Hurley, Mallory Abate, Paul Kunnath
DOI: 10.12659/AJCR.938659
Am J Case Rep 2023; 24:e938659
4,068 4,168 0

22 Apr 2023 : Case report
Classical Presentation of Disseminated Blastomycosis in a 44-Year-Old Healthy Man 3 Months After Diagnosis of COVID-19
Diana Fan, Ali Ahmad
, Jared Frisby, Kavita Darji, Ashley Ojeaga, Ramona Behshad, M. Yadira Hurley, Mallory Abate, Paul Kunnath
DOI: 10.12659/AJCR.938659
Am J Case Rep 2023; 24:e938659
4068 4168 0

20 Apr 2023 : Case report
Dermoid Cyst of the Parotid Gland: Case Report of a Rare Entity and Review of the Literature
Zahra Z. Alhusain, Karolina Witczak, Ahmed Shabaik
DOI: 10.12659/AJCR.939411
Am J Case Rep 2023; 24:e939411
4,587 2,758 0

20 Apr 2023 : Case report
Dermoid Cyst of the Parotid Gland: Case Report of a Rare Entity and Review of the Literature
Zahra Z. Alhusain, Karolina Witczak, Ahmed Shabaik
DOI: 10.12659/AJCR.939411
Am J Case Rep 2023; 24:e939411
4587 2758 0

27 Apr 2023 : Case report
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care
Aisyah Kamal, Johanes Dedi Kanchau, Nur Syahirah Shahuri, Mohamed-Syarif Mohamed-Yassin, Noorhida Baharudin, Suraya Abdul Razak, Siti Fatimah Badlishah-Sham, Hasidah Abdul-Hamid, Aznida Firzah Abdul Aziz, Alyaa Al-Khateeb, Yung An Chua, Noor Alicezah Mohd Kasim, Siti Hamimah Sheikh Abdul Kadir, Hapizah Nawawi, Nadeem Qureshi, Anis Safura Ramli
DOI: 10.12659/AJCR.939489
Am J Case Rep 2023; 24:e939489
3,957 4,775 0

27 Apr 2023 : Case report
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care
Aisyah Kamal, Johanes Dedi Kanchau, Nur Syahirah Shahuri, Mohamed-Syarif Mohamed-Yassin, Noorhida Baharudin, Suraya Abdul Razak, Siti Fatimah Badlishah-Sham, Hasidah Abdul-Hamid, Aznida Firzah Abdul Aziz, Alyaa Al-Khateeb, Yung An Chua, Noor Alicezah Mohd Kasim, Siti Hamimah Sheikh Abdul Kadir, Hapizah Nawawi, Nadeem Qureshi, Anis Safura Ramli
DOI: 10.12659/AJCR.939489
Am J Case Rep 2023; 24:e939489
3957 4775 0

17 Apr 2023 : Case report
Acute Deterioration of Patient with Sudden Onset of Shock Caused by Group G Streptococcus Infection after Revision Total Knee Arthroplasty: A Case Report
Kensuke Wada, Tomoyuki Matsumoto, Kemmei Ikuta, Masanori Tsubosaka, Naoki Nakano, Toshihisa Maeda
, Yuichi Kuroda, Shinya Hayashi, Ryosuke Kuroda
DOI: 10.12659/AJCR.938905
Am J Case Rep 2023; 24:e938905
4,246 2,429 0

17 Apr 2023 : Case report
Acute Deterioration of Patient with Sudden Onset of Shock Caused by Group G Streptococcus Infection after Revision Total Knee Arthroplasty: A Case Report
Kensuke Wada, Tomoyuki Matsumoto, Kemmei Ikuta, Masanori Tsubosaka, Naoki Nakano, Toshihisa Maeda
, Yuichi Kuroda, Shinya Hayashi, Ryosuke Kuroda
DOI: 10.12659/AJCR.938905
Am J Case Rep 2023; 24:e938905
4246 2429 0

15 Apr 2023 : Case report
Adjuvant Radiotherapy for Dissected Parotid Lymph Nodes Containing Merkel Cell Carcinoma from an Unknown Primary Skin Site: 2 Case Reports
Tzu-Yun Lai, Fang-Hui Liu, Peng-An Lai, Chi-Yuan Peter Yeh
DOI: 10.12659/AJCR.939183
Am J Case Rep 2023; 24:e939183
2,628 2,433 0

15 Apr 2023 : Case report
Adjuvant Radiotherapy for Dissected Parotid Lymph Nodes Containing Merkel Cell Carcinoma from an Unknown Primary Skin Site: 2 Case Reports
Tzu-Yun Lai, Fang-Hui Liu, Peng-An Lai, Chi-Yuan Peter Yeh
DOI: 10.12659/AJCR.939183
Am J Case Rep 2023; 24:e939183
2628 2433 0

13 Apr 2023 : Case report
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi
, Hidehito Kondo, Erina Nakahara
, Keiko Shimojima Yamamoto
, Hitoshi Kanno
, Yoshinori Katayama
DOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
2,902 3,212 0

13 Apr 2023 : Case report
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi
, Hidehito Kondo, Erina Nakahara
, Keiko Shimojima Yamamoto
, Hitoshi Kanno
, Yoshinori Katayama
DOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
2902 3212 0

17 Apr 2023 : Case report
Chondro-Cutaneous Autograft for Reconstruction of the Nasal Ala After a Human Bite
Bartolo Corradino, Sara Di Lorenzo, Andrea Pio Cascino
DOI: 10.12659/AJCR.939242
Am J Case Rep 2023; 24:e939242
2,587 2,496 0

17 Apr 2023 : Case report
Chondro-Cutaneous Autograft for Reconstruction of the Nasal Ala After a Human Bite
Bartolo Corradino, Sara Di Lorenzo, Andrea Pio Cascino
DOI: 10.12659/AJCR.939242
Am J Case Rep 2023; 24:e939242
2587 2496 0

19 Apr 2023 : Case report
A Case of a Refractory Bleeding Giant Vaginal Wall Cavernous Hemangioma Successfully Managed with Sclerotherapy
Mari Fukuoka, Toshiyuki Okumura, Ayato Hayashi, Natsumi Takeda, Akari Koizumi, Takafumi Ujihira, Shintaro Makino
DOI: 10.12659/AJCR.939474
Am J Case Rep 2023; 24:e939474
6,303 6,556 0

19 Apr 2023 : Case report
A Case of a Refractory Bleeding Giant Vaginal Wall Cavernous Hemangioma Successfully Managed with Sclerotherapy
Mari Fukuoka, Toshiyuki Okumura, Ayato Hayashi, Natsumi Takeda, Akari Koizumi, Takafumi Ujihira, Shintaro Makino
DOI: 10.12659/AJCR.939474
Am J Case Rep 2023; 24:e939474
6303 6556 0

06 Apr 2023 : Case report
Laparoscopic Treatment of Primary Colon Melanoma: A Case Study
Biser Petrov, Plamen Milanov Petrov, Stoian Anguelov Alexov, Gyuner Hadzhiev, Teodora Vukova
DOI: 10.12659/AJCR.938914
Am J Case Rep 2023; 24:e938914
1,718 1,510 0

06 Apr 2023 : Case report
Laparoscopic Treatment of Primary Colon Melanoma: A Case Study
Biser Petrov, Plamen Milanov Petrov, Stoian Anguelov Alexov, Gyuner Hadzhiev, Teodora Vukova
DOI: 10.12659/AJCR.938914
Am J Case Rep 2023; 24:e938914
1718 1510 0

03 Apr 2023 : Case report
Acute Occlusion of the Abdominal Aorta Associated with Left Ventricular Thrombus: A Case Report
Xuan Zhang, Hao Zou, Yuan Rong
DOI: 10.12659/AJCR.939095
Am J Case Rep 2023; 24:e939095
2,528 1,981 0

03 Apr 2023 : Case report
Acute Occlusion of the Abdominal Aorta Associated with Left Ventricular Thrombus: A Case Report
Xuan Zhang, Hao Zou, Yuan Rong
DOI: 10.12659/AJCR.939095
Am J Case Rep 2023; 24:e939095
2528 1981 0

01 Apr 2023 : Case report
A Rare Nasopharyngeal Adenoid Cystic Carcinoma: Case Report and Literature Review
Nawaf M. Alsubaie
, Ahmed Alhussien
, Abdulrahman Alghulikah, Saleh Alabood, Mohammed Alsukayt, Ibrahim Alarifi
DOI: 10.12659/AJCR.938858
Am J Case Rep 2023; 24:e938858
5,134 4,365 0

01 Apr 2023 : Case report
A Rare Nasopharyngeal Adenoid Cystic Carcinoma: Case Report and Literature Review
Nawaf M. Alsubaie
, Ahmed Alhussien
, Abdulrahman Alghulikah, Saleh Alabood, Mohammed Alsukayt, Ibrahim Alarifi
DOI: 10.12659/AJCR.938858
Am J Case Rep 2023; 24:e938858
5134 4365 0

27 Mar 2023 : Case report
An Isolated Laminar Osteoma Arising in the Maxillary Sinus
Takaharu Taketomi, Kouhei Imayama, Ken Nakamura, Jingo Kusukawa
DOI: 10.12659/AJCR.938904
Am J Case Rep 2023; 24:e938904
3,228 2,920 0

27 Mar 2023 : Case report
An Isolated Laminar Osteoma Arising in the Maxillary Sinus
Takaharu Taketomi, Kouhei Imayama, Ken Nakamura, Jingo Kusukawa
DOI: 10.12659/AJCR.938904
Am J Case Rep 2023; 24:e938904
3228 2920 0

24 Mar 2023 : Case report
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature
Corban P. Goodman, Hyunsoo Park, Georgi D. Mladenov
, Steven L. Raymond, Andrew Sundin
, Andrei Radulescu, Faraz A. Khan
DOI: 10.12659/AJCR.938248
Am J Case Rep 2023; 24:e938248
4,821 2,805 0

24 Mar 2023 : Case report
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature
Corban P. Goodman, Hyunsoo Park, Georgi D. Mladenov
, Steven L. Raymond, Andrew Sundin
, Andrei Radulescu, Faraz A. Khan
DOI: 10.12659/AJCR.938248
Am J Case Rep 2023; 24:e938248
4821 2805 0

22 Mar 2023 : Case report
An 18-Year-Old Female Athlete Presenting with Knee Pain Following a Basketball Game and Diagnosed with Bilateral Patellar Stress Fractures
Nireet K. Dhillon
, Garrett R. Jackson, Daniel J. Kaplan
, Nikhil N. Verma
DOI: 10.12659/AJCR.938420
Am J Case Rep 2023; 24:e938420
6,396 5,109 0

22 Mar 2023 : Case report
An 18-Year-Old Female Athlete Presenting with Knee Pain Following a Basketball Game and Diagnosed with Bilateral Patellar Stress Fractures
Nireet K. Dhillon
, Garrett R. Jackson, Daniel J. Kaplan
, Nikhil N. Verma
DOI: 10.12659/AJCR.938420
Am J Case Rep 2023; 24:e938420
6396 5109 0

21 Mar 2023 : Case report
Perioperative Management of Recurrent Hemophagocytic Syndrome in a Pregnant Woman: A Case Report
Ayako Sumii, Hirotsugu Miyoshi
, Takahiro Kato
, Sachiko Otsuki, Yousuke T. Horikawa, Shiho Satomi, Noboru Saeki, Yusuke Yoshida, Yasuo M. Tsutsumi
DOI: 10.12659/AJCR.939369
Am J Case Rep 2023; 24:e939369
2,424 1,647 0

21 Mar 2023 : Case report
Perioperative Management of Recurrent Hemophagocytic Syndrome in a Pregnant Woman: A Case Report
Ayako Sumii, Hirotsugu Miyoshi
, Takahiro Kato
, Sachiko Otsuki, Yousuke T. Horikawa, Shiho Satomi, Noboru Saeki, Yusuke Yoshida, Yasuo M. Tsutsumi
DOI: 10.12659/AJCR.939369
Am J Case Rep 2023; 24:e939369
2424 1647 0

20 Mar 2023 : Case report
Glomus Tumor Within the Tensor Fascia Lata: A Case Report
Ammar Abdulqader Alfattni, Wael Hyderabad, Khalid Saleem Alharthi, Ali Hadi Alyami
DOI: 10.12659/AJCR.938726
Am J Case Rep 2023; 24:e938726
2,234 1,945 0

20 Mar 2023 : Case report
Glomus Tumor Within the Tensor Fascia Lata: A Case Report
Ammar Abdulqader Alfattni, Wael Hyderabad, Khalid Saleem Alharthi, Ali Hadi Alyami
DOI: 10.12659/AJCR.938726
Am J Case Rep 2023; 24:e938726
2234 1945 0

19 Mar 2023 : Case report
Abdominal Pain Due to Eosinophilic Gastroenteritis Diagnosed in 25-Year-Old and 27-Year-Old Sisters with a Family History of Asthma
Deshinta Putri Mulya, Nuklear Adiwena, Neneng Ratnasari, Muhammad Juffrie
DOI: 10.12659/AJCR.938232
Am J Case Rep 2023; 24:e938232
2,889 4,778 0

19 Mar 2023 : Case report
Abdominal Pain Due to Eosinophilic Gastroenteritis Diagnosed in 25-Year-Old and 27-Year-Old Sisters with a Family History of Asthma
Deshinta Putri Mulya, Nuklear Adiwena, Neneng Ratnasari, Muhammad Juffrie
DOI: 10.12659/AJCR.938232
Am J Case Rep 2023; 24:e938232
2889 4778 0

17 Mar 2023 : Case report
A 16-Year-Old Ukrainian Boy Shot at Close-Range to the Back of the Neck with a Handgun Who Required Surgical Removal of a 9×18-mm Bullet Shell from the Left Posterior Maxilla and Recovered Following Physical Therapy
Viktor Konoplitskyi, Dmytro Dmytriiev, Mykola Sidoryk, Oleksandr Dobrovanov, Marian Vidiscak
DOI: 10.12659/AJCR.939413
Am J Case Rep 2023; 24:e939413
3,940 3,601 0

17 Mar 2023 : Case report
A 16-Year-Old Ukrainian Boy Shot at Close-Range to the Back of the Neck with a Handgun Who Required Surgical Removal of a 9×18-mm Bullet Shell from the Left Posterior Maxilla and Recovered Following Physical Therapy
Viktor Konoplitskyi, Dmytro Dmytriiev, Mykola Sidoryk, Oleksandr Dobrovanov, Marian Vidiscak
DOI: 10.12659/AJCR.939413
Am J Case Rep 2023; 24:e939413
3940 3601 0

15 Mar 2023 : Case report
Neurotuberculosis in a Patient with Ulcerative Colitis Using Long-Term Adalimumab: A Rare Case
Carolina Bortolozzo Graciolli Facanali, Marcio Roberto Facanali Junior, Adriana Vaz Safatle-Ribeiro, Carlos Walter Sobrado
DOI: 10.12659/AJCR.938353
Am J Case Rep 2023; 24:e938353
2,257 1,704 0

15 Mar 2023 : Case report
Neurotuberculosis in a Patient with Ulcerative Colitis Using Long-Term Adalimumab: A Rare Case
Carolina Bortolozzo Graciolli Facanali, Marcio Roberto Facanali Junior, Adriana Vaz Safatle-Ribeiro, Carlos Walter Sobrado
DOI: 10.12659/AJCR.938353
Am J Case Rep 2023; 24:e938353
2257 1704 0

14 Mar 2023 : Case report
Rare Case of BCOR::CCNB3 Sarcoma of Bone
Yumi Arai, Yasuo Yazawa, Tomoaki Torigoe, Jungo Imanishi, Toru Motoi, Masanori Yasuda, Ryuhei Tanaka, Takashi Fukushima, Atsuko Watanabe
, Atsuhiko Ohta, Yuki Shimizu, Yuho Kadono
, Kazuo Saita
DOI: 10.12659/AJCR.938158
Am J Case Rep 2023; 24:e938158
4,374 3,058 0

14 Mar 2023 : Case report
Rare Case of BCOR::CCNB3 Sarcoma of Bone
Yumi Arai, Yasuo Yazawa, Tomoaki Torigoe, Jungo Imanishi, Toru Motoi, Masanori Yasuda, Ryuhei Tanaka, Takashi Fukushima, Atsuko Watanabe
, Atsuhiko Ohta, Yuki Shimizu, Yuho Kadono
, Kazuo Saita
DOI: 10.12659/AJCR.938158
Am J Case Rep 2023; 24:e938158
4374 3058 0

13 Mar 2023 : Case report
Successful Surgical Management of Gastric Antral Vascular Ectasia in a Patient with End-Stage Renal Disease: A Case Report and Literature Review
Bader H. Alsaeed, Ayesha A. AlAbdulqader, Ali A. Al-Qadhi
, Hawra A. Alaswad, Mohammed S. Foula, Saeed J. Alshomimi
DOI: 10.12659/AJCR.938543
Am J Case Rep 2023; 24:e938543
3,876 3,494 0

13 Mar 2023 : Case report
Successful Surgical Management of Gastric Antral Vascular Ectasia in a Patient with End-Stage Renal Disease: A Case Report and Literature Review
Bader H. Alsaeed, Ayesha A. AlAbdulqader, Ali A. Al-Qadhi
, Hawra A. Alaswad, Mohammed S. Foula, Saeed J. Alshomimi
DOI: 10.12659/AJCR.938543
Am J Case Rep 2023; 24:e938543
3876 3494 0

23 Feb 2023 : Case report
Nodulisporium Fungal Brain Abscess In Early Post-Renal Transplant: A Rare, Unexpected, Mysterious Pathogen
Shreya Jayaram, Shankar Prasad
DOI: 10.12659/AJCR.939241
Am J Case Rep 2023; 24:e939241
2,612 1,820 0

23 Feb 2023 : Case report
Nodulisporium Fungal Brain Abscess In Early Post-Renal Transplant: A Rare, Unexpected, Mysterious Pathogen
Shreya Jayaram, Shankar Prasad
DOI: 10.12659/AJCR.939241
Am J Case Rep 2023; 24:e939241
2612 1820 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.952921
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953836
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953059
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