1.Clinical and genetic analysis of seven Chinese pedigrees affected with multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis.
Xudong FANG ; Huihong WANG ; Fang DONG ; Bijun LIAN ; Feng LI ; Hangyang JIN ; Yufu YU ; Nan ZHANG ; Xiaoping QI
Chinese Journal of Medical Genetics 2022;39(9):938-943
OBJECTIVE:
To explore the pathological characteristics and significance of RET proto-oncogene screening in multiple endocrine neoplasia type 2A (MEN2A) with cutaneous lichen amyloidosis (CLA).
METHODS:
Clinical data of 51 members from 7 unrelated pedigrees of MEN2A-CLA were collected. Systemic clinical investigations including biochemical testing, imaging examination, germline RET variant screening and histopathological examination were carried out.
RESULTS:
RET gene variants were detected in 28 patients with MEN2A (C634G/F/R/S/W and C611Y) including 12 males and 16 females, with the mean age of diagnosis being (41.1 ± 18.3) years old, which were consistent with their clinical manifestations. The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), hyperparathyroidism (HPTH) and CLA among 28 MEN2A patients were 89.3%, 28.6%, 7.1% and 28.6%, respectively. Comparison of the incidence of MTC/PHEO/HPTH and CLA between C611Y and C634G/F/R/S/W, only PHEO and CLA in C611Y were lower than those in C634G/F/R/S/W (P < 0.05; P < 0.05). Among 8 patients with CLA, the male to female ratio was 2 : 6. The clinical features included pruritus in the interscapular region and presence of dry, thickened, scaly, brown pigment, clustered or desquamate-like plaques. The mean onset age of CLA [(18.4 ± 4.6) years] versus the mean age at diagnosis of CLA or MEN2A were significantly different (P < 0.001; P < 0.001).
CONCLUSION
MEN2A-CLA may be the early clinical manifestation of MEN2A and most frequently occurred along with RET-C634 variant. To facilitate the recognition of MEN2A-CLA, to combine family investigation and screening of RET variant are helpful for early diagnosis and standardized treatment, which can improve the long-term outcome of MEN2A-specific tumors.
Adolescent
;
Adrenal Gland Neoplasms
;
Adult
;
Amyloidosis, Familial
;
Carcinoma, Neuroendocrine
;
China
;
Female
;
Humans
;
Lichens
;
Male
;
Middle Aged
;
Multiple Endocrine Neoplasia Type 2a/genetics*
;
Pheochromocytoma
;
Proto-Oncogene Proteins c-ret/genetics*
;
Skin Diseases, Genetic
;
Thyroid Neoplasms/genetics*
;
Young Adult
2.A Case of Lichen Planus with Nail Loss due to Misrecognition of Onychomycosis
Soojung KIM ; Jae Kyung LEE ; Chong Won CHOI
Korean Journal of Dermatology 2019;57(9):560-561
No abstract available.
Lichen Planus
;
Lichens
;
Onychomycosis
;
Toes
3.Lichen Planus Developed During the Treatment with Nivolumab in a Patient with Lung Cancer: A Case Report and Literature Review
Eunjung PARK ; Taehan KOO ; Mingyul JO ; Jisook YOO ; Jiho PARK
Korean Journal of Dermatology 2019;57(9):551-555
Nivolumab is a fully-humanized IgG4 monoclonal antibody that competitively binds to the programmed cell death receptor-1 protein (an immune check-point molecule) present on activated T cells. Nivolumab is approved for the treatment of advanced melanoma, lung cancer, and renal cell carcinoma. It attenuates the inactivation of cytotoxic CD8+ T cells and, produces an antitumor effect; however it may be associated with immune-related adverse events, including the development of lichen planus (LP). A 72-year-old man presented with a 2-month history of multiple, polygonal, purplish papules on the dorsal aspect of both hands. He was diagnosed with large cell neuroendocrine carcinoma (LCNEC) of the lung 4 years earlier and was treated with nivolumab (3 mg/kg every 2 weeks) for 9 months. By the 14th course of nivolumab therapy, the patient developed multiple rashes on the dorsal aspect of both hands, and biopsy was consistent with findings of LP. We report a rare case of LP in a patient with lung cancer treated with nivolumab.
Aged
;
Biopsy
;
Carcinoma, Neuroendocrine
;
Carcinoma, Renal Cell
;
Cell Death
;
Exanthema
;
Hand
;
Humans
;
Immunoglobulin G
;
Lichen Planus
;
Lichens
;
Lung Neoplasms
;
Lung
;
Melanoma
;
T-Lymphocytes
4.A Case Series of Esophageal Lichen Planus: An Underdiagnosed Cause of Dysphagia
Puja RAI ; Mahmoud Y MADI ; Raymond LEE ; Aaron DICKSTEIN
The Korean Journal of Helicobacter and Upper Gastrointestinal Research 2019;19(4):266-271
Lichen planus (LP) is a chronic mucocutaneous inflammatory condition that typically affects middle-aged adults. Esophageal involvement in LP is rare and underrecognized, often leading to delayed diagnosis and treatment of LP. Herein, we describe three cases of esophageal LP (ELP) in clinically symptomatic patients with endoscopic lesions in the upper to mid-esophagus. This case series suggests that ELP is be more common than was previously thought and emphasizes that clinicians should have a high index of suspicion for this diagnosis, particularly when evaluating proximal esophageal lesions in patients presenting with dysphagia. The series also highlights the successful treatment of our patients with budesonide-honey slurry.
Adult
;
Deglutition Disorders
;
Delayed Diagnosis
;
Diagnosis
;
Humans
;
Lichen Planus
;
Lichenoid Eruptions
;
Lichens
;
Skin Diseases, Papulosquamous
5.Two New Species of the Genus Candelariella from China and Korea
Dong LIU ; Lisong WANG ; Xin Yu WANG ; Jae Seoun HUR
Mycobiology 2019;47(1):40-49
Candelariella is a widespread lineage of lichenized ascomycetes with ambiguous relationships among species that have not solved completely. In this study, several specimens belonging to Candelariella were collected from China and South Korea, and the internal transcribed spacer region was generated to confirm the system position of the newly collected specimens. Combined with a morphological examination and phylogenetic analysis, two new areolate species, Candelariella rubrisoli and C. subsquamulosa, are new to science. Detail descriptions of each new species are presented. In addition, C. canadensis is firstly reported from China mainland.
Ascomycota
;
China
;
Classification
;
Far East
;
Korea
;
Lichens
;
Phylogeny
6.Sulzbacheromyces sinensis, an Unexpected Basidiolichen, was Newly Discovered from Korean Peninsula and Philippines, with a Phylogenetic Reconstruction of Genus Sulzbacheromyces
Dong LIU ; Xin YU WANG ; Li Song WANG ; Nitaro MAEKAWA ; Jae Seoun HUR
Mycobiology 2019;47(2):191-199
Most of lichens are formed by Ascomycota, less than 1% are lichenized Basidiomycota. The flora investigation of lichenized Ascomycota of South Korea has been well studied in the past three decades; however, prior to this study, none of basidiolichens was discovered. During the recent excursion, an unexpected clavarioid basidiolichen, Sulzbacheromyces sinensis was collected. Morphology and ecology has been recorded in detail. DNA was extracted, and ITS, 18S, 28S nuclear rDNA were generated. In order to further confirm the systematic position of the Korean specimens, maximum likelihood and Bayesian inference analysis including all the species of the order Lepidostromatales were conducted based on the ITS. As a result, the phylogenetic tree of the order Lepidostromatales was reconstructed, which differed from the previous studies. The inferred phylogenetic tree showed that species of Sulzbacheromyces in three different continents (Asia, South Africa and South America) were separated into three clades with support. In this study, the species worldwide distribution map of Lepidostromatales was illustrated, and S. sinensis had a widest distribution range (paleotropical extend to the Sino-Japanese) than other species (paleotropical or neotropical). Prior to this study, the range of distribution, southernmost and northernmost points and the fruiting time of S. sinensis were recorded, and the genus Sulzbacheromyces was firstly reported from Korean peninsula and Philippines.
Ascomycota
;
Asia
;
Basidiomycota
;
DNA
;
DNA, Ribosomal
;
Ecology
;
Fruit
;
Geography
;
Korea
;
Lichens
;
Philippines
;
Phylogeny
;
South Africa
;
Trees
7.Two New Corticolous Buellioid Species from South Korea
Dong LIU ; Sergey Y KONDRATYUK ; László LŐKÖS ; Josef P HALDA ; Min Hye JEONG ; Jung Shin PARK ; Jung Jae WOO ; Jae Seoun HUR
Mycobiology 2019;47(2):143-153
Several buellioid specimens were collected from South Korea during field surveys and two new species are described based on morphology, chemistry, and molecular phylogeny. Buellia boseongensis sp. nov. is similar to B. polyspora but differs in having a UV + orange thallus and cryptolecanorine apothecia. Sculptolumina coreana sp. nov., resembles S. japonica, but differs in having a smooth entire continuous thallus, which reacts K–, a narrower excipulum, thicker epihymenium, narrower subhymenium, and in containing secondary metabolites other than flavo-obscurin and myeloconone. A key to the buellioid lichens reported from Korea is also presented.
Chemistry
;
Korea
;
Lichens
;
Phylogeny
8.Extracts of Flavoparmelia sp. Inhibit Receptor Activator of Nuclear Factor-κB Ligand-Mediated Osteoclast Differentiation
Kwang Jin KIM ; Yongjin LEE ; Min Hye JEONG ; Jae Seoun HUR ; Young Jin SON
Journal of Bone Metabolism 2019;26(2):113-121
BACKGROUND: Osteoporosis is a geriatric disease with diminished bone density. The increase in the number of patients and medical expenses due to a global aging society are recognized as problems. Bone loss is the most common symptom of bone disease, not only osteoporosis but Paget's disease, rheumatoid arthritis, multiple myeloma, and other diseases. The main cause of this symptoms is excessive increase in the number and activity of osteoclasts. Osteoclasts are multinucleated giant cells that can resorb bone. They are differentiated and activation from monocytes/macrophages in the presence of macrophage colony-stimulating factor and receptor activator of nuclear factor-κB ligand (RANKL). METHODS: The effect of extract of Flavoparmelia sp. (EFV), a genus of lichenized fungi within the Parmeliaceae, on the differentiation of bone marrow-derived macrophages (BMMs) into osteoclasts was examined by phenotype assay and the cell cytotoxicity was evaluated by cell counting kit-8. The osteoclast differentiation-related genes and proteins were investigated by real-time polymerase chain reaction and immunoblotting. The functional activity of osteoclast in response to EFV treatment was evaluated by an Osteo Assay plate. RESULTS: In this study, we found that EFV, a genus of lichenized fungi within the Parmeliaceae, inhibited osteoclast formation. And we investigated its inhibitory mechanism. EFV reduced RANKL-mediated osteoclast formation and activation by inhibiting expression of nuclear factor of activated T cells 1, a key factor of osteoclastogenesis. CONCLUSIONS: Taken together, our results show that EFV is a promising candidate for health functional foods or therapeutic agents that can help treat bone diseases such as osteoporosis.
Aging
;
Arthritis, Rheumatoid
;
Bone Density
;
Bone Diseases
;
Cell Count
;
Functional Food
;
Fungi
;
Giant Cells
;
Humans
;
Immunoblotting
;
Lichens
;
Macrophage Colony-Stimulating Factor
;
Macrophages
;
Multiple Myeloma
;
NFATC Transcription Factors
;
Osteoclasts
;
Osteoporosis
;
Parmeliaceae
;
Phenotype
;
Real-Time Polymerase Chain Reaction
;
T-Lymphocytes
9.A Case of Nivolumab-Induced Lichen Planus
Se Jin OH ; Young Hwan CHOI ; Hyun Jeong BYUN ; Seung Hwan OH ; Ji Hye PARK ; Jong Hee LEE ; Dong Youn LEE ; Joo Heung LEE ; Jun Mo YANG
Annals of Dermatology 2019;31(3):345-347
No abstract available.
Lichen Planus
;
Lichens
10.Linear Lichen Planopilaris of the Face Successfully Treated with Topical Calcineurin Inhibitor
Hyun Min SEO ; Hyunji LEE ; Chul Hwan BANG ; Ji Hyun LEE ; Young Min PARK ; Jun Young LEE
Korean Journal of Dermatology 2019;57(7):412-413
No abstract available.
Calcineurin
;
Lichens

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