1.A Case of Type 1 Segmental Darier’s Disease with Bilateral Presentation
Youngbeom KIM ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Jungsoo LEE ; Kihyuk SHIN ; Hoon-Soo KIM ; Hyun-Chang KO ; Moon-Bum KIM ; Byungsoo KIM
Korean Journal of Dermatology 2025;63(1):1-4
Darier’s disease is characterized by greasy and scaly papules that primarily affect seborrheic and intertriginous areas which is caused by a mutation in the ATP2A2 gene. Histopathologically, the disease is characterized by acantholysis and dyskeratosis. Among the diverse presentations, the segmental type follows a linear distribution along the lines of Blaschko. Herein, we present a case of a 54-year-old male with generalized erythematous papules that had been linearly distributed across his body for two decades. Lesions on his trunk and extremities were confined to the right side, whereas those on the scalp and face exhibited multiple segmental presentations. Histopathological examination revealed acantholysis and dyskeratosis in the epidermis, confirming the diagnosis of type 1 segmental Darier’s disease. This case underscores the rarity of type 1 segmental Darier’s disease, particularly with multiple segmental involvement and highlights the complexity and variability of this dermatological condition.
2.A Case of Type 1 Segmental Darier’s Disease with Bilateral Presentation
Youngbeom KIM ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Jungsoo LEE ; Kihyuk SHIN ; Hoon-Soo KIM ; Hyun-Chang KO ; Moon-Bum KIM ; Byungsoo KIM
Korean Journal of Dermatology 2025;63(1):1-4
Darier’s disease is characterized by greasy and scaly papules that primarily affect seborrheic and intertriginous areas which is caused by a mutation in the ATP2A2 gene. Histopathologically, the disease is characterized by acantholysis and dyskeratosis. Among the diverse presentations, the segmental type follows a linear distribution along the lines of Blaschko. Herein, we present a case of a 54-year-old male with generalized erythematous papules that had been linearly distributed across his body for two decades. Lesions on his trunk and extremities were confined to the right side, whereas those on the scalp and face exhibited multiple segmental presentations. Histopathological examination revealed acantholysis and dyskeratosis in the epidermis, confirming the diagnosis of type 1 segmental Darier’s disease. This case underscores the rarity of type 1 segmental Darier’s disease, particularly with multiple segmental involvement and highlights the complexity and variability of this dermatological condition.
3.A Case of Type 1 Segmental Darier’s Disease with Bilateral Presentation
Youngbeom KIM ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Jungsoo LEE ; Kihyuk SHIN ; Hoon-Soo KIM ; Hyun-Chang KO ; Moon-Bum KIM ; Byungsoo KIM
Korean Journal of Dermatology 2025;63(1):1-4
Darier’s disease is characterized by greasy and scaly papules that primarily affect seborrheic and intertriginous areas which is caused by a mutation in the ATP2A2 gene. Histopathologically, the disease is characterized by acantholysis and dyskeratosis. Among the diverse presentations, the segmental type follows a linear distribution along the lines of Blaschko. Herein, we present a case of a 54-year-old male with generalized erythematous papules that had been linearly distributed across his body for two decades. Lesions on his trunk and extremities were confined to the right side, whereas those on the scalp and face exhibited multiple segmental presentations. Histopathological examination revealed acantholysis and dyskeratosis in the epidermis, confirming the diagnosis of type 1 segmental Darier’s disease. This case underscores the rarity of type 1 segmental Darier’s disease, particularly with multiple segmental involvement and highlights the complexity and variability of this dermatological condition.
4.A Case of Type 1 Segmental Darier’s Disease with Bilateral Presentation
Youngbeom KIM ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Jungsoo LEE ; Kihyuk SHIN ; Hoon-Soo KIM ; Hyun-Chang KO ; Moon-Bum KIM ; Byungsoo KIM
Korean Journal of Dermatology 2025;63(1):1-4
Darier’s disease is characterized by greasy and scaly papules that primarily affect seborrheic and intertriginous areas which is caused by a mutation in the ATP2A2 gene. Histopathologically, the disease is characterized by acantholysis and dyskeratosis. Among the diverse presentations, the segmental type follows a linear distribution along the lines of Blaschko. Herein, we present a case of a 54-year-old male with generalized erythematous papules that had been linearly distributed across his body for two decades. Lesions on his trunk and extremities were confined to the right side, whereas those on the scalp and face exhibited multiple segmental presentations. Histopathological examination revealed acantholysis and dyskeratosis in the epidermis, confirming the diagnosis of type 1 segmental Darier’s disease. This case underscores the rarity of type 1 segmental Darier’s disease, particularly with multiple segmental involvement and highlights the complexity and variability of this dermatological condition.
5.Identification of signature gene set as highly accurate determination of metabolic dysfunction-associated steatotic liver disease progression
Sumin OH ; Yang-Hyun BAEK ; Sungju JUNG ; Sumin YOON ; Byeonggeun KANG ; Su-hyang HAN ; Gaeul PARK ; Je Yeong KO ; Sang-Young HAN ; Jin-Sook JEONG ; Jin-Han CHO ; Young-Hoon ROH ; Sung-Wook LEE ; Gi-Bok CHOI ; Yong Sun LEE ; Won KIM ; Rho Hyun SEONG ; Jong Hoon PARK ; Yeon-Su LEE ; Kyung Hyun YOO
Clinical and Molecular Hepatology 2024;30(2):247-262
Background/Aims:
Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression.
Methods:
Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD.
Results:
After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort.
Conclusions
We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.
6.A Case of Atypical Divided Nevus of the Penis
Jinsu LEE ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Yeona KIM ; Jungsoo LEE ; Kihyuk SHIN ; Hoonsoo KIM ; Hyunchang KO ; Byungsoo KIM ; Moon-Bum KIM ; Sang-Hyeon WON
Korean Journal of Dermatology 2024;62(10):569-571
7.A Case of Idiopathic Calcinosis Cutis on the Nipple Tip
Yumi WON ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Yeona KIM ; Jungsoo LEE ; Kihyuk SHIN ; Hoonsoo KIM ; Hyunchang KO ; Byungsoo KIM ; Moon-Bum KIM ; Sang-Hyeon WON
Korean Journal of Dermatology 2024;62(10):565-566
8.Pancreatic Panniculitis Occurring in a Patient with Von Hippel-Lindau Syndrome
Soobin CHA ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Yeona KIM ; Sang-Hyeon WON ; Jungsoo LEE ; Hoonsoo KIM ; Hyunchang KO ; Byungsoo KIM ; Moon-Bum KIM ; Kihyuk SHIN
Korean Journal of Dermatology 2024;62(10):567-568
9.Atypical Manifestation of Petechial Angiomata with Acral Involvement
Yumi WON ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Jungsoo LEE ; Kihyuk SHIN ; Hoonsoo KIM ; Hyunchang KO ; Byungsoo KIM ; Moon-Bum KIM
Korean Journal of Dermatology 2024;62(10):550-553
Petechial angiomata are benign vascular skin tumors, that typically present as flat, irregularly shaped spots ranging from bright red to purple in color, measuring approximately 0.2 to 3 mm in diameter. They are primarily found on the trunk and proximal extremities. We report atypical petechial angiomata with acral involvement in a 75-year-old woman. She had a history of bladder cancer that was treated surgically and had been on raloxifene therapy for osteoporosis for approximately 4 years. Histopathologic finding revealed dilated vascular channels and an enlarged capillary lake within the papillary dermis surrounded by tortuous capillaries. Immunohistochemical analysis showed positivity of CD31 in the entire cell lining, but negativity for D2-40. To our knowledge, acral involvement in petechial angiomata has not been reported previously. Although both the nosology and pathophysiology of this feature remain unclear, endothelial dilation related to long-term raloxifene medication may contribute to the development of atypical vascular lesions.
10.A Case of Acquired Dermal Melanocytosis of the Face and Extremities
Jaehoon HA ; Gi-Wook LEE ; Jun-Oh SHIN ; Dongyoung ROH ; Yeona KIM ; Sang-Hyeon WON ; Jungsoo LEE ; Kihyuk SHIN ; Hoonsoo KIM ; Hyun-Chang KO ; Byungsoo KIM ; Moon-Bum KIM
Korean Journal of Dermatology 2024;62(9):516-519
Acquired dermal melanocytosis, characterized by the presence of melanocytes in the dermis, varies in the timing and location of occurrence. While congenital cases, such as Mongolian spots, nevus of Ota, nevus of Ito, and blue nevus, are common, acquired cases also occur. Acquired bilateral nevus of Ota-like macules is relatively common in Asians;however, extrafacial cases, particularly those involving both the face and extremities, are extremely rare. We report the case of a 66-year-old man with symmetric pigmented patches on the scalp, face, shoulders, and dorsa of the hands for 9 months, following the onset of spots on the forehead and nose that progressively spread. Notably, nasal ala pigmentation was confirmed. Histopathological examination revealed scattered melanin-containing dendritic cells in the upper dermis. Based on the clinicopathological findings, he was diagnosed with acquired dermal melanocytosis of the face and extremities, representing a rare case.

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