Japanese Society for Pediatric Endocrinology Acta Medica Okayama 0918-5739 34 2 2025 Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: A case report 131 136 EN Kosei Hasegawa Department of Pediatrics, Okayama University Hospital Tomoko Miyake Department of Dermatology, Okayama University Hospital Mina Kobashi Department of Dermatology, Okayama University Hospital Tomonori Tetsunaga Department of Dermatology, Okayama University Hospital Yuko Ago Department of Pediatrics, Okayama University Hospital Natsuko Futagawa Department of Pediatrics, Okayama University Hospital Hiroyuki Miyahara Department of Pediatrics, Okayama University Hospital Yousuke Higuchi Department of Pediatrics, Okayama University Hospital Shin Morizane Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Hirokazu Tsukahara Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Vitamin D–dependent rickets type 2A (VDDR2A) is an autosomal recessive disease caused by pathogenic variants of the vitamin D receptor (VDR) gene. VDDR2A rickets are usually resistant to native or active vitamin D treatment because of impaired active calcium absorption against the calcium concentration gradient, which is a ligand-dependent VDR action in the small intestine. Alopecia due to an impaired skin follicular cycle is occasionally observed in patients with VDDR2A. Among the pathogenic VDR variants, most in the DNA-binding domain and some in the ligand-binding domain, which affect the dimerization of VDR with the retinoic X receptor, are associated with alopecia. Herein, we report a case of VDDR2A caused by compound heterozygous pathogenic variants of the DNA-binding domain of VDR. Active vitamin D treatment did not ameliorate genu varum, rachitic changes in the roentgenogram, or abnormal laboratory findings. However, oral administration of calcium lactate dramatically improved these findings. The patient also experienced hair loss at two months of age and multiple papules on the skin at two yr of age, which did not improve with vitamin D or calcium supplementation. We also report the histopathological findings of skin papules in this patient. No potential conflict of interest relevant to this article was reported.

Wiley Acta Medica Okayama 0385-2407 51 8 2024 The treatment effect of endovascular therapy for chronic limb‐threatening ischemia with systemic sclerosis 1108 1112 EN Yoshihiro Matsuda Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Tomoko Miyake Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Hironobu Toda Department of Cardiovascular Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Kota Tachibana Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Hayato Nomura Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Yoji Hirai Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Yoshio Kawakami Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Naoya Sakoda Department of Cardiovascular Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Shin Morizane Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Systemic sclerosis (SSc) is a collagen disease with immune abnormalities, vasculopathy, and fibrosis. Ca blockers and prostaglandins are used to treat peripheral circulatory disturbances. Chronic limb-threatening ischemia (CLTI) is a disease characterized by extremity ulcers, necrosis, and pain due to limb ischemia. Since only a few patients present with coexistence of CLTI and SSc, the treatment outcomes of revascularization in these cases are unknown. In this study, we evaluated the clinical characteristics and treatment outcomes of seven patients with CLTI and SSc, and 35 patients with uncomplicated CLTI who were hospitalized from 2012 to 2022. A higher proportion of patients with uncomplicated CLTI had diabetes and male. There were no significant differences in the age at which ischemic ulceration occurred, other comorbidities, or in treatments, including antimicrobial agents, revascularization and amputation, improvement of pain, and the survival time from ulcer onset between the two subgroups. EVT or amputation was performed in six or two of the seven patients with CLTI and SSc, respectively. Among those who underwent EVT, 33% (2/6) achieved epithelialization and 67% (4/6) experienced pain relief. These results suggest that the revascularization in cases with CLTI and SSc should consider factors such as infection and general condition, since revascularization improve the pain of these patients. No potential conflict of interest relevant to this article was reported.

MDPI Acta Medica Okayama 1422-0067 21 3 2020 Multifaceted Analyses of Epidermal Serine Protease Activity in Patients with Atopic Dermatitis 913 EN Hayato Nomura Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Mutsumi Suganuma Department of Dermatology, Nagoya University Graduate School of Medicine Takuya Takeichi Department of Dermatology, Nagoya University Graduate School of Medicine Michihiro Kono Department of Dermatology and Plastic Surgery, Akita University Graduate School of Medicine Yuki Isokane Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Ko Sunagawa Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Mina Kobashi Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Satoru Sugihara Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Ai Kajita Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Tomoko Miyake Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Yoji Hirai Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Osamu Yamasaki Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science Masashi Akiyama Department of Dermatology, Nagoya University Graduate School of Medicine Shin Morizane Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Science The serine proteases kallikrein-related peptidase (KLK) 5 and KLK7 cleave cell adhesion molecules in the epidermis. Aberrant epidermal serine protease activity is thought to play an important role in the pathogenesis of atopic dermatitis (AD). We collected the stratum corneum (SC) from healthy individuals (n = 46) and AD patients (n = 63) by tape stripping and then measuring the trypsin- and chymotrypsin-like serine protease activity. We also analyzed the p.D386N and p.E420K of SPINK5 variants and loss-of-function mutations of FLG in the AD patients. The serine protease activity in the SC was increased not only in AD lesions but also in non-lesions of AD patients. We found, generally, that there was a positive correlation between the serine protease activity in the SC and the total serum immunoglobulin E (IgE) levels, serum thymus and activation-regulated chemokine (TARC) levels, and peripheral blood eosinophil counts. Moreover, the p.D386N or p.E420K in SPINK5 and FLG mutations were not significantly associated with the SC's serine protease activity. Epidermal serine protease activity was increased even in non-lesions of AD patients. Such activity was found to correlate with a number of biomarkers of AD. Further investigations of serine proteases might provide new treatments and prophylaxis for AD. No potential conflict of interest relevant to this article was reported.

Wiley Acta Medica Okayama 01466615 92 12 2020 The aim of the measurement of Epstein‐Barr virus DNA in hydroa vacciniforme and hypersensitivity to mosquito bites 3689 3696 EN Tomoko Miyake Department of Dermatology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Keiji Iwatsuki Department of Dermatology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Yoji Hirai Department of Dermatology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Takenobu Yamamoto Department of Dermatology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Toshihisa Hamada Department of Dermatology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Kazuyasu Fujii Department of Dermatology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Hideaki mamura Department of Pediatrics, Faculty of Medicine, University of Miyazaki Shin Morizane Department of Dermatology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University Epstein‐Barr virus (EBV) DNA load in the blood increases in posttransplant lymphoproliferative disorders and chronic active EBV infection. In this report, we analyzed the EBV DNA load in the peripheral blood mononuclear cells (PBMCs) and plasma of patients with hydroa vacciniforme (HV) and/or hypersensitivity to mosquito bites (HMB) to understand the clinical significance of EBV DNA load. All 30 patients showed high DNA loads in the PBMCs over the cut‐off level. Of 16 plasma samples, extremely high in two samples obtained from patients with hemophagocytic lymphohistiocytosis (HLH). The amount of cell‐free DNA in plasma was correlated to the serum levels of lactate dehydrogenase and inversely correlated to platelet counts. These results indicate that the EBV DNA load in PBMCs can provide one of the diagnostic indicators for HV and HMB and marked elevation of cell‐free EBV DNA in plasma might be related to cytolysis such as that observed in HLH. No potential conflict of interest relevant to this article was reported.