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A case of recurrent fever and skin rash in Blau syndrome
( Jongeun Lee ),( Yeonjoo Jung ),( Dong Min Shin ),( Donghwi Jang ),( Se Jin Oh ),( Ji-hye Park ),( Jong Hee Lee ),( Joo-heung Lee ),( Dongyoun Lee ) 대한피부과학회 2021 대한피부과학회 학술발표대회집 Vol.72 No.2
Blau syndrome was first described in 1985 as a familial granulomatous inflammatory disease with autosomal dominant inheritance pattern. It is caused by mutation in NOD2 gene, a member of the NOD-like receptor (NLR) family of pattern recognition receptors, which is involved in inflammation and innate immune defense against invading pathogens. A 14-month-old boy presented with erythematous papules on whole body with recurrent fever since 1 month after birth. Along with recurrent fever and rash, there was moderately reduced result of neutrophil respiratory burst test and decrease in memory T-cell and B-cell in lymphocyte subset study. The skin biopsy specimen of his abdomen demonstrated multifocal non-caseating granulomas with some giant cells. After mutation analysis, it revealed NOD2 c.1000c>t p(Arg334Trp) heterozygous, de novo mutation. Blau syndrome classically presents in early childhood and presents the triad of granulomatous polyarthritis, dermatitis and uveitis Skin rash is the first symptom to appear usually in the first year of life. Erythematous maculo-micropapular fine scaly rash on the trunk and extremities in infant is often misdiagnosed as atopic dermatitis or ichthyosis vulgaris. Herein, we present a case of Blau syndrome which presented recurrent fever and erythematous papular skin rash in young child.
A case of follicular mucinosis in a child at unusual location
( Jongeun Lee ),( Hyun Jeong Byun ),( Chan Seong Park ),( Youngkyoung Lim ),( Ji-hye Park ),( Jong Hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang ) 대한피부과학회 2019 대한피부과학회 학술발표대회집 Vol.71 No.1
Follicular mucinosis (FM) is usually presented as welldemarcated erythematous or skin-colored patches with follicular papules at head or neck. It is a rare entity in children. A healthy 4-year-old boy presented with a 1-month history of an erythematous patch at left dorsum of nose. The patch was rather uneven because of follicular papules and firm on palpation. The pathologic findings showed deposition of blue amorphous material in sebaceous gland with lymphocytic infiltration, suggesting inflammation of sebaceous gland without histopathologic features of mycosis fungoides such as epidermotropism of lymphocytes or lymphoid atypia. The lesion was completely healed after 6 weeks of topical steroid (0.25% prednicarbate). Although it has been described to follow benign courses in children, close follow up is warranted as it is difficult to distinguish idiopathic FM and lymphoma-associated FM. In English literature published so far, head accounted for around 80% in the solitary FM cases. Forehead and chin were the most frequently involved location while FM involving nose was reported only twice, each in multiple and solitary cases. Herein, we report a case of FM in a child at nose treated with topical steroid.
A case of cowden syndrome with multi-systemic tumors and thyroid cancer
( Jongeun Lee ),( Hyun Jeong Byun ),( Chan Seong Park ),( Youngkyoung Lim ),( Ji-hye Park ),( Jong Hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang ) 대한피부과학회 2019 대한피부과학회 학술발표대회집 Vol.71 No.1
Cowden syndrome is caused by mutation in phosphatase and tensin homolog (PTEN) gene, belonging to PTEN hamartoma tumor syndrome. A 21-year-old female presented with small papules on palms and neck. In addition, there were solitary papules under the nose and the upper lip and skin tags on both axilla. Her past medical history included intramuscular arteriovenous malformation versus hemangioma on right lower leg, cyst in the right ovary, multiple follicles in the left ovary, fibroadenoma in the left breast, and phyllodes tumor and intraductal papilloma in the right breast. Moreover, additional mass in thyroid turned out to be a papillary thyroid carcinoma. The mutation analysis for PTEN hamartoma syndrome confirmed pathogenic variant in the PTEN gene. A 3mm-punch biopsy on the left palm revealed regular orthokeratosis and hyperkeratosis consistent with palmoplantar keratosis. During the follow up visits, the patient developed hematochezia due to numerous hyperplastic and lymphoid polyps in stomach through rectum. Cowden syndrome possesses increased risk of developing malignancies including breast, thyroid, and colorectal cancers. Therefore it is important for dermatologists to recognize symptoms of the possible multi-systemic tumors in these patients. Herein, we present a case of Cowden syndrome with multi-systemic tumors and thyroid cancer.
A case of yellow nail syndrome with myocardial infarction and hypothyroidism
( Youngkyoung Lim ),( Jongeun Lee ),( Hyun Jeong Byun ),( Chan Seong Park ),( Jae Ho Lee ),( Ji-hye Park ),( Jong Hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.1
Yellow Nail Syndrome (YNS) is a rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. It is chracterized by yellow nail discoloration, pulmonary manifestations, and lower limb lymphedema. Nail manifestation includes slow growth, thickening, hardening, transversal ridging, onycholysis, onychorrhexis, and paronychia. Pulmonary manifestation shows bronchitis, bronchiectasis, pneumonia, and pleural effusions. Chronic sinusitis is frequently associated with the triad of YNS. A 61-year-old male visited our clinic with nail dystrophy which started 18 months ago. Nail changes were observed including nail thickening, yellow color change, and transverse ridging. Result of potassium hydroxide (KOH) preparation, and fungus culture were negative. Periodic acid-Schiff (PAS) staining of nail clipping specimen revealed no fungal hyphae. There had been history of bronchiectasia with bronchiolitis, pneumonia, and chronic sinusitis. The patient had also experienced myocardial infarction (MI) and hypothyroidism. Herein, we present a very rare case of YNS with both MI and hypothyroidism.
A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene
( Chan Seong Park ),( Jongeun Lee ),( Hyun Jeong Byun ),( Youngkyoung Lim ),( Ji-hye Park ),( Jong Hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang ),( Jee Hun Lee ),( So-young Yoo ) 대한피부과학회 2019 Annals of Dermatology Vol.31 No.Suppl
Reconstitution human skin with spatial transcriptomics
( Donghwi Jang ),( Dong Min Shin ),( Jongeun Lee ),( Hyun Jeong Byun ),( Taeseob Lee ),( Hyun Je Kim ),( Se Jin Oh ),( Ji-hye Park ),( Jong-hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang 대한피부과학회 2020 대한피부과학회 학술발표대회집 Vol.72 No.1
Background: Single cell RNAseq (scRNAseq) has been broadening our understandings of transcriptome profiles of normal and pathologic human skin. However, loss of spatial information related to tissue dissociation has been a hurdle of the interpretation of scRNAseq data. Objectives: To decipher the transcriptomic profiles of human skin preserving spatial information. Methods: The tissue samples of volar side of infant thumb skin were obtained from polydactyly surgery and placed on spatially barcoded capture probes coated Visium® slide. After performing reverse transcription with oligo-dT primer on the slide cDNA library was prepared and sequenced. Sequencing data was aligned using GRCh38 human genome reference. Results: Total of 1,862 recognized spots with median 2,980 genes per spots were analyzed. Unsupervised 17 clusters were mapped on the slide preserving their spatial information. Epidermis, dermis, eccrine, adipose and nerve tissue were clearly separated by their differences of spatial and transcriptomic profiles. Epidermis was divided into 4 parts; cornified epidermis, cornifying epidermis, noncornified epidermis and TP53AIP1 epidermis, respectively, and eccrine tissue into 3 parts; DCD+, GABRP+, and KRT7+ eccrine tissue. Pacinian corpuscle and myelinated nerve showed different gene expression in nerve tissue cluster. Conclusion: Herein, we present the first spatial transcriptomic data of normal human skin.
지주막하 출혈 환자에서 Atrial Natriuretic Peptide의 변동
이하상,이제혁,김수한,강삼석,이종은 대한신경외과학회 1991 Journal of Korean neurosurgical society Vol.20 No.6
Hyponatremia following the subarachnoid hemorrhage has been attributed to the syndrome of inappropriate secretion antidiuretic hormone or salt wasting syndrome. Recently discovered atrial natriuretic peptide(ANP) is known to contol sodium and extracellular fluid homeostasis by increasing renal excretion of sodium. To investigate whether the hyponatremia following the subarachnoid hemorrhage(SAH) is due to changes in plasma ANP, plasma ANP, serum sodium concentration and central venous pressure were measured in 10 patients(CSF ANP as well in some patients) with subarachnoid hemorrhage. The results obtained were as follows. 1) Plasma ANP concentration increased during the acute stage of SAH, being recovered to control levels after 8 days of SAH. 2) ANP concentration was significantly higher in plasma than in CSF. 3) No significant correlation was noted between the plasma ANP and CVP or serum sodium concentration. These results suggest that ANP is not involved in the development of hyponatremia during the acute stage of SAH.