Rare disease

01 May 2023 : Case report
Chest Tightness with Cycling Turned Out To Be Pneumomediastinum
Fahad Zafar, Ommar Afzal
DOI: 10.12659/AJCR.939170
Am J Case Rep 2023; 24:e939170
2,578 1,924 0

01 May 2023 : Case report
Chest Tightness with Cycling Turned Out To Be Pneumomediastinum
Fahad Zafar, Ommar Afzal
DOI: 10.12659/AJCR.939170
Am J Case Rep 2023; 24:e939170
2578 1924 0

30 Apr 2023 : Case report
Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
DOI: 10.12659/AJCR.938896
Am J Case Rep 2023; 24:e938896
6,166 2,336 0

30 Apr 2023 : Case report
Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
DOI: 10.12659/AJCR.938896
Am J Case Rep 2023; 24:e938896
6166 2336 0

26 Apr 2023 : Case report
Rare Case of Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome with Monoclonal Gammopathy of Undetermined Significance
Alpana Garg
, Alexander A. Garza, Sachin Goyal, Petar Lenert
DOI: 10.12659/AJCR.939650
Am J Case Rep 2023; 24:e939650
3,281 2,775 0

26 Apr 2023 : Case report
Rare Case of Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome with Monoclonal Gammopathy of Undetermined Significance
Alpana Garg
, Alexander A. Garza, Sachin Goyal, Petar Lenert
DOI: 10.12659/AJCR.939650
Am J Case Rep 2023; 24:e939650
3281 2775 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
3,085 2,878 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
3085 2878 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
3,160 3,680 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
3160 3680 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
3,171 2,244 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
3171 2244 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
3,948 3,872 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
3948 3872 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
4,483 2,276 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
4483 2276 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
3,790 4,199 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
3790 4199 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
4,160 2,253 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
4160 2253 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
2,556 2,156 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
2556 2156 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
2,803 2,451 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
2803 2451 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
2,473 2,328 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
2473 2328 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
6,215 6,113 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
6215 6113 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
1,640 1,368 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
1640 1368 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
2,467 1,853 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
2467 1853 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
5,056 3,499 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
5056 3499 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
3,132 2,589 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
3132 2589 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
4,730 2,620 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
4730 2620 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
6,307 4,735 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
6307 4735 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
2,309 1,492 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
2309 1492 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
2,152 1,774 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
2152 1774 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
2,788 3,584 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
2788 3584 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
3,816 3,204 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
3816 3204 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
2,180 1,549 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
2180 1549 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953173
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953192
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Am J Case Rep In Press; DOI: 10.12659/AJCR.952818
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953608
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