1.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
2.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
3.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
4.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
5.Central Anticholinergic Syndrome Induced by Atropine Eye Drops: A Case Report
Jung Sun HEO ; Je Jin LEE ; Sang Uk CHOI ; Nam Ju MOON ; Joon Hyung YEO
Journal of the Korean Ophthalmological Society 2024;65(11):745-748
Purpose:
We present a case of central anticholinergic syndrome following the administration of atropine eye drops.Case summary: A 60-year-old male presented with decreased visual acuity in his left eye and was diagnosed with intraocular lens dislocation. Preoperatively, Isopto atropine® eye drops (1 drop at 15-minutes intervals) were used for pupil dilation. Within an hour of the first instillation, the patient exhibited drowsiness, disorientation, agitation, and urinary retention. Laboratory tests and computed tomography of the brain were unremarkable. Considering the recent administration of atropine eye drops, a diagnosis of central anticholinergic syndrome was made. The surgery was postponed and the patient recovered fully after 3 hours of observation. He remained asymptomatic during an additional day of hospitalization.
Conclusions
A small dose of atropine eye drops even at a therapeutic dose can induce central anticholinergic syndrome. Therefore, ophthalmologists should be aware of this rare and severe complication.
6.Central Anticholinergic Syndrome Induced by Atropine Eye Drops: A Case Report
Jung Sun HEO ; Je Jin LEE ; Sang Uk CHOI ; Nam Ju MOON ; Joon Hyung YEO
Journal of the Korean Ophthalmological Society 2024;65(11):745-748
Purpose:
We present a case of central anticholinergic syndrome following the administration of atropine eye drops.Case summary: A 60-year-old male presented with decreased visual acuity in his left eye and was diagnosed with intraocular lens dislocation. Preoperatively, Isopto atropine® eye drops (1 drop at 15-minutes intervals) were used for pupil dilation. Within an hour of the first instillation, the patient exhibited drowsiness, disorientation, agitation, and urinary retention. Laboratory tests and computed tomography of the brain were unremarkable. Considering the recent administration of atropine eye drops, a diagnosis of central anticholinergic syndrome was made. The surgery was postponed and the patient recovered fully after 3 hours of observation. He remained asymptomatic during an additional day of hospitalization.
Conclusions
A small dose of atropine eye drops even at a therapeutic dose can induce central anticholinergic syndrome. Therefore, ophthalmologists should be aware of this rare and severe complication.
7.Central Anticholinergic Syndrome Induced by Atropine Eye Drops: A Case Report
Jung Sun HEO ; Je Jin LEE ; Sang Uk CHOI ; Nam Ju MOON ; Joon Hyung YEO
Journal of the Korean Ophthalmological Society 2024;65(11):745-748
Purpose:
We present a case of central anticholinergic syndrome following the administration of atropine eye drops.Case summary: A 60-year-old male presented with decreased visual acuity in his left eye and was diagnosed with intraocular lens dislocation. Preoperatively, Isopto atropine® eye drops (1 drop at 15-minutes intervals) were used for pupil dilation. Within an hour of the first instillation, the patient exhibited drowsiness, disorientation, agitation, and urinary retention. Laboratory tests and computed tomography of the brain were unremarkable. Considering the recent administration of atropine eye drops, a diagnosis of central anticholinergic syndrome was made. The surgery was postponed and the patient recovered fully after 3 hours of observation. He remained asymptomatic during an additional day of hospitalization.
Conclusions
A small dose of atropine eye drops even at a therapeutic dose can induce central anticholinergic syndrome. Therefore, ophthalmologists should be aware of this rare and severe complication.
8.Three Cases of Recalcitrant Pediatric Tinea Capitis Successfully Treated with Griseofulvin
Eui-Sung JUNG ; Sang-Kyung LEE ; Il-Jae LEE ; Kyung-Hwa NAM ; Seok-Kweon YUN ; Han-Uk KIM ; Jin PARK
Annals of Dermatology 2023;35(Suppl2):S247-S251
Tinea capitis is an infection of the scalp hair follicles and surrounding skin that primarily occurs in prepubertal children. Microsporum canis remains the most common pathogen causing tinea capitis in Asian countries, including South Korea, although the causative organism of this condition varies across geographical regions and time periods. Systemic antifungal agents are the mainstay treatments for tinea capitis; however, the therapeutic responses to antifungal drugs may vary depending on the causative species, and treatment failure may occur owing to drug resistance. Although dermatophytosis resistant to clinical treatment have been increasingly encountered, recalcitrant tinea capitis cases have rarely been reported. Herein, we report three cases of tinea capitis caused by M. canis in children. All three patients showed unsatisfactory clinical responses to prolonged courses of oral terbinafine or itraconazole without achieving mycological cure; however, they were successfully treated with oral griseofulvin. Although griseofulvin is not currently available or licensed for use in many countries, including South Korea, it is one of the most effective agents against Microsporum species and remains the most widely used first-line treatment for tinea capitis in children, based on dermatology textbooks and reliable treatment guidelines.
9.Clinical, Pathological, and Dermoscopic Features of Pityriasis Rotunda
Kyung-Hwa NAM ; Il-Jae LEE ; Sang-Kyung LEE ; Jin PARK ; Han-Uk KIM ; Seok-Kweon YUN
Korean Journal of Dermatology 2022;60(5):291-297
Background:
Pityriasis rotunda (PR) is a rare dermatosis characterized by the presence of multiple, strikingly circular or oval-shaped, sharply demarcated, and scaly hyperpigmented patches. Its etiology remains poorly understood. To date, there have been no comprehensive analyses of PR in Koreans.
Objective:
To investigate the clinical, pathological, and dermoscopic features of PR.
Methods:
Sixteen patients with PR were evaluated.
Results:
A female preponderance was observed (male:female ratio 1:7), and the mean age of the patients was 33.2±16.1 years (range, 15∼68 years), with the peak incidence observed in patients in their 20s. Notably, all the lesions developed on the trunk. The most common clinical diagnosis is PR. Histologically, PR appears similar to ichthyosis vulgaris. Hyperkeratosis was mainly ortho-keratotic, with plugs observed within hair follicles, elongated rete ridges, diminished stratum granulosum, enhanced pigmentation of the basal layer, pigmentary incontinence, and sparse superficial perivascular lymphoid cell inflammatory infiltrate. Periodic acid-Schiff staining was negative for fungi. Hyperpigmented patches with occasional scales were separated from each other by paler striae on dermoscopy.
Conclusion
PR commonly presents as multiple round lesions of variable sizes on the trunk of patients in their 20s. They showed characteristic findings, including hyperkeratosis with relative focal hypogranulosis, histopathologically, and some lesions showed dark and light brown polygonal patches with paler striae arranged dermoscopically, in a mosaic pattern. This was a retrospective single-center study with a small sample size; however, we believe that this paper will contribute to the clarification and understanding of PR.
10.Sarcomatoid Squamous Cell Carcinoma of the Lower Lip: A Case Report
Kyung-Hwa NAM ; Il-Jae LEE ; Sang-Kyung LEE ; Jin PARK ; Han-Uk KIM ; Seok-Kweon YUN
Korean Journal of Dermatology 2021;59(8):640-643
Sarcomatoid squamous cell carcinoma (SSCC) is a rare malignancy with distinct carcinomatous and sarcomatous features. SSCCs involving the lung, esophagus bladder, and skin have been reported as rare case reports. It may also occur infrequently in the oral region. Moreover, the lower lip is still one of the rare sites, and such a case has not been reported in Korean literature. An 82-year-old man presented an exophytic protruding, huge, warty crusted lesion on the entire lower lip. The lesion started as a small, tender, erosive papule and suddenly enlarged in recent months.His medical history was unremarkable. A biopsy revealed atypical squamous and sarcomatous components with transition zones between the two cell types. These two cell types also showed characteristic immunohistochemical features. Based on these findings, the lesion was diagnosed as SSCC. The study, including positron emission tomography-computed tomography, showed no metastasis. We recommended surgical excision, but the patient refused therapy.

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