Journal of Yeungnam Medical Science

Case reports

Hematology
Hemophagocytic lymphohistiocytosis with recurrent Kikuchi-Fujimoto disease: Sang Min Lee, Young Tae Lim, Kyung Mi Jang, Mi Jin Gu, Jong Ho Lee, Jae Min Lee; Yeungnam Univ J Med. 2021;38(3):245-250. Published online November 11, 2020; DOI: https://doi.org/10.12701/yujm.2020.00654

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Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a self-limiting lymphadenitis. It is a benign disease mainly characterized by high fever, lymph node swelling, and leukopenia. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease with clinical symptoms similar to those of KFD, but it requires a significantly more aggressive treatment. A 19-year-old Korean male patient was hospitalized for fever and cervical lymphadenopathy. Variable-sized lymph node enlargements with slightly necrotic lesions were detected on computed tomography. Biopsy specimen from a cervical lymph node showed necrotizing lymphadenitis with HLH. Bone marrow aspiration showed hemophagocytic histiocytosis. The clinical symptoms and the results of the laboratory test and bone marrow aspiration met the diagnostic criteria for HLH. The patient was diagnosed with macrophage activation syndrome—HLH, a secondary HLH associated with KFD. He was treated with dexamethasone (10 mg/m2/day) without immunosuppressive therapy or etoposide-based chemotherapy. The fever disappeared within a day, and other symptoms such as lymphadenopathy, ascites, and pleural effusion improved. Dexamethasone was reduced from day 2 of hospitalization and was tapered over 8 weeks. The patient was discharged on day 6 with continuation of dexamethasone. The patient had no recurrence at the 18-month follow-up.

Citations

Citations to this article as recorded by

Late recurrence of Kikuchi–Fujimoto disease nine years after initial diagnosis: a case-based review
Arian Akhondi, Valerie Anne-Sophie Faber, Adam Hawkins, David Ray Chen
Clinical Rheumatology.2026;[Epub] CrossRef
Case Report: Two Cases of Kikuchi Disease in West Texas With Non-Self-Limited Disease
Pitchaporn Yingchoncharoen, Nattanicha Chaisrimaneepan, Miriam Paz, Alexandra Hoffman, Kuldeep Lohano, Safaa Labib, John Pixley
Journal of Investigative Medicine High Impact Case Reports.2025;[Epub] CrossRef
Histiocytic necrotizing lymphadenitis with hemophagocytic lymphohistiocytosis in adults: A single‐center analysis of 5 cases
Qingqing Chen, Jing Zhang, Huijun Huang, Tonglu Qiu, Ze Jin, Yu Shi, Huayuan Zhu, Lei Fan, Jianyong Li, Wenyu Shi, Yi Miao
Immunity, Inflammation and Disease.2024;[Epub] CrossRef
A young Saudi female with combined hemophagocytic lympho-histiocytosis and Kikuchi’s disease: A case report
Kamal Al-Zahrani, Batol Gasmelseed, Hesham Waaer Shadi, Rehab Y AL-Ansari
SAGE Open Medical Case Reports.2023;[Epub] CrossRef
Cefalea y fiebre: no todo es lo que parece
María Pilar Iranzo-Alcolea, Carmen Ariño-Palao, Grisell Starita-Fajardo, Andrés González-García, Cecilia Suárez-Carantoña
Revista Española de Casos Clínicos en Medicina Interna.2023; 8(2): 105. CrossRef
Kikuchi–Fujimoto disease: literature review and report of four cases
V. G. Potapenko, V. V. Baykov, А. Yu. Markova, N. B. Mikhailova, A. S. Ter‑Grigoryan, Yu. А. Krivolapov
Oncohematology.2022; 17(4): 48. CrossRef

Pediatrics, Perinatology, and Child Health
A new type of oculocutaneous albinism with a novel OCA2 mutation: Sang Yoon Lee, Eun Joo Lee, Jun Chul Byun, Kyung Mi Jang, Sae Yoon Kim, Su-Kyeong Hwang; Yeungnam Univ J Med. 2021;38(2):160-164. Published online August 3, 2020; DOI: https://doi.org/10.12701/yujm.2020.00339

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Abstract PDF

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.

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Citations to this article as recorded by

Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights
Mostafa Neissi, Sahar Kareem Al-Mozani, Ayoob Radhi Al-Zaalan, Samaneh Sanavi Shiri, Motahareh Sheikh-Hosseini, Adnan Issa Al-Badran, Elaheh Nekouei
Asian Biomedicine.2025; 19(3): 154. CrossRef
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
Beilei Jiang, Hua Zhang, Yuling Kan, Xueping Gao, Zhaoli Du, Quan Liu
Molecular Genetics & Genomic Medicine.2024;[Epub] CrossRef
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
Muhammad Ikram Ullah
Genes.2022; 13(6): 1072. CrossRef

Original article

Dentistry
Evaluation of craniofacial morphology in short-statured children: growth hormone deficiency versus idiopathic short stature: Ki Bong Kim, Eun-Kyong Kim, Kyung Mi Jang, Min Seon Kim, Eun Young Park; Yeungnam Univ J Med. 2021;38(1):47-52. Published online July 7, 2020; DOI: https://doi.org/10.12701/yujm.2020.00325

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Abstract PDF

Background
Short stature is defined as a height below the 3rd percentile or more than two standard deviations below the mean for a given age, sex, and population. There have been inconsistent results regarding craniofacial morphology in short-statured children. This study aimed to analyze the differences between short-statured children with growth hormone deficiency, idiopathic short-statured children, and normal children.
Methods
Thirty-one short-statured children with growth hormone deficiency, 32 idiopathic short-statured children, and 32 healthy children were enrolled in this study. The measurements of their craniofacial structures from lateral cephalograms were evaluated.
Results
There were statistically significant differences among the three groups seven variables (anterior cranial base length, posterior cranial base length, total cranial base length, upper posterior facial height, posterior total facial height, mandibular ramus length, and overall mandibular length) in the linear measurement and five variables (saddle angle, gonial angle, mandibular plane angle, position of mandible, and maxilla versus mandible) in the angular measurement.
Conclusion
Compared to the control group, many linear and angular measurements of the craniofacial structures were significantly different in the two short-statured groups (p<0.05). Treatment plans by orthodontists should include these craniofacial structure characteristics.

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Correlation of Craniofacial Features and Transfusion Frequency in Children Aged 5–15 Years with Thalassemia: A Systematic Review
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Growth Hormone & IGF Research.2022; 62: 101444. CrossRef
Sella turcica dimensions and maxillary growth in patients with unilateral cleft lip and palate
Gregory S. Antonarakis, Luis Huanca Ghislanzoni, David M. Fisher
Journal of Stomatology, Oral and Maxillofacial Surgery.2022; 123(6): e916. CrossRef
Clinical Implications of Growth Hormone Deficiency for Oral Health in Children: A Systematic Review
Natalia Torlińska-Walkowiak, Katarzyna Anna Majewska, Andrzej Kędzia, Justyna Opydo-Szymaczek
Journal of Clinical Medicine.2021; 10(16): 3733. CrossRef
A Clinical Study on the Treatment of Children’s Short Stature with Auxiliary Comprehensive Management Combined with Growth Patch
Haiying Feng, Weizhu Zhao, Huijun Yu, Guanfu Wang, Qunhong Wang, Songwen Tan
Evidence-Based Complementary and Alternative Medicine.2021; 2021: 1. CrossRef

Review article

Pediatrics, Perinatology, and Child Health
Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment: Kyung Mi Jang; Yeungnam Univ J Med. 2020;37(1):13-21. Published online January 9, 2020; DOI: https://doi.org/10.12701/yujm.2019.00409

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Abstract PDF

Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.

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Development of a Calculator for HNF1A- and HNF4A-MODY in Asian Indians
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Caracterización clínica de pacientes con diabetes tipo MODY: Reporte de casos
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Y Wang, X Ye, X Chen, H Zang, Q Shen, L Chen
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International Journal of Molecular Sciences.2024; 25(12): 6318. CrossRef
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