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The article presents case studies of a 56-year-old man, 62-year-old man, and 36-year-old man with skin diseases. Topics discussed include the presence of anti-Mi-2 antibody in patients depicting as a marker for dermatomyositis (DM), need of repeated testing for monitoring the disease, and disease severity.

We accumulated the demographic information and analyzed the prevalence of myositis-specific antibodies (MSAs) in a large cohort across Japan as standard testing for MSAs becomes more widely available. This retrospective, observational, cohort study analyzed the records of individuals aged 0-99 years who are tested for serum MSAs at SRL Incorporation from January 2014 to April 2020 across Japan. An enzyme-linked immunosorbent assay testing was applied to determine the presence of anti-aminoacyl tRNA synthetase (anti-ARS), anti-Mi-2, anti-melanoma differentiation-associated gene 5 (anti-MDA5), or anti-transcriptional intermediary factor 1-γ (anti-TIF1γ) (Medical and Biological Laboratories). Anti-TIF1γ antibody was detected more in male patients than female patients. In contrast, women were predominant in patients with other MSAs. More than half of the anti-ARS or anti-TIF1γ antibody-positive patients were over 60 years old, although anti-MDA5 or anti-Mi-2-positive patients were mostly under <60 years old. Anti-MDA5 antibody-positive patients were mostly aged 40-59 years, while other MSA groups were mostly 60-79 years. Anti-MDA5 antibody was detected most frequently in the age range of 0-29 years. Anti-TIF1γ antibody was the second most commonly detected autoantibody in the age range of 0-19 years. Anti-ARS antibody was the most frequently detected autoantibody after the age of 30 years, and the frequency of anti-ARS gradually increased at more advanced ages. The second and third most detected autoantibodies were anti-MDA5 and anti-TIF1γ, respectively, in ages 30-79 years. We performed a nationwide >3-year evaluation of MSA detection in a routine diagnostic setting. This paper provides clinical images concerning the relationship between four MSA types and the distribution of sex and age in a large population., (© 2023 Japanese Dermatological Association.)

Palisaded neutrophilic and granulomatous dermatitis (PNGD) is a relatively rare skin disease that is characterized by a reactive granulomatous histopathological pattern and is often associated with systemic autoimmune diseases. We encountered a case of PNGD that presented with pustules, although the prototypical clinical presentation of PNGD is mainly erythema and papules. Here, this rare case of PNGD with pustules is presented and discussed in relation to the relevant literature., (© 2022 Japanese Dermatological Association.)

Sarcoidosis and systemic sclerosis (SSc) are both multisystem disorders of unknown etiology. Some cases having both sarcoidosis and SSc have been reported previously. The present study was to investigate clinical features in sarcoidosis patients who possessed SSc-specific autoantibody. The pathophysiology of each disease, including shared pathways leading to the development of both conditions, is reviewed in addition to previous reports of patients with concomitant SSc and sarcoidosis. SSc-specific autoantibodies including anticentromere antibody (ACA), anti-topoisomerase I antibody, anti-RNA polymerase III antibody and anti-U1RNP antibody were examined in sarcoidosis patients. Complete medical histories, clinical examinations and laboratory tests were conducted for all patients. For reviewing previously published reports, all cases were retrieved through a PubMed search. ACA was most frequently observed in sarcoidosis patients. Plaques and papules were the most frequent as the cutaneous sarcoidosis lesions. Soluble interleukin-2 receptor was elevated in most of the cases (6/8, 75%), and thymus and activation-regulated chemokine (TARC) was elevated in all cases (6/6, 100%). Together with our two cases (cases 1 and 3), a review of previously reported cases of sarcoidosis patients concomitant with SSc showed high frequency of ACA and plaques as cutaneous lesions. We suppose that TARC may play some roles in the production of SSc-specific autoantibodies and development of concomitance with SSc in sarcoidosis, although the mechanisms remain unknown., (© 2019 Japanese Dermatological Association.)

We report herein a case of a 72-year-old man with pityriasis rubra pilaris (PRP) that was refractory to conventional therapies. His skin lesions progressed to generalized erythroderma despite anti-interleukin (IL)-17A antibody therapy. Topical corticosteroids, emollients, systemic retinoid, methotrexate, cyclosporin and phototherapy yielded no therapeutic response. However, blockade of IL-12/23 p40 dramatically improved his cutaneous lesions. Complete remission was achieved 4 weeks after the first injection of ustekinumab and maintained for more than 48 weeks. Our data indicate that IL-12 was associated with the onset of PRP in this patient, rather than IL-23. IL-12 is critical for the differentiation of T-helper (Th)1 cells. Thus, the Th1 pathway may be associated with the onset of PRP., (© 2018 Japanese Dermatological Association.)

Hydroxychloroquine (HCQ) is an effective treatment of lupus erythematosus. Although adverse effects, mainly gastrointestinal and cutaneous manifestations, are rare, they may result in the cessation of medication in some patients with severe reactions. Therefore, the evaluation of a patient's condition is important for a dermatologist to decide whether to cease or continue HCQ. We herein report a case of a 36-year-old Japanese woman with systemic lupus erythematosus and cutaneous eruptions caused by the p.o. administration of HCQ. Because she wanted to continue the medication and had only mild cutaneous eruptions without any adverse effects in other organs, we continued HCQ with careful monitoring. All cutaneous eruptions disappeared within 1 week. We also reviewed published case reports on skin lesions that developed after HCQ treatments, and propose strategies for early cutaneous eruptions after HCQ treatments. When the cutaneous reactions are mild without any reactions in other organs, withdrawal of the drug is not required. However, when cutaneous eruptions are accompanied by some common reactions, HCQ needs to be stopped for a period of time and may subsequently be carefully re-administrated., (© 2017 Japanese Dermatological Association.)

Skin lesions in sarcoidosis are often the initial symptoms that enable the dermatologist to be the first to diagnose this granulomatosis. However, diagnosis is sometimes very problematic. In 2015, the diagnostic criteria for sarcoidosis were updated in Japan, with elevated serum soluble interleukin-2 receptor (sIL-2R) replacing negative tuberculin reaction. Therefore, we assessed the clinical utility of sIL-2R compared with two other common markers, angiotensin-converting enzyme (ACE) and lysozyme, in patients who visited the dermatology clinic. Data from 72 patients showed that sIL-2R was more sensitive than both ACE and lysozyme in supporting a diagnosis of sarcoidosis (52.8%) compared with ACE (29%) and lysozyme (26.4%). Additionally, the sIL-2R level was significantly higher in patients with multiple organ involvement and parenchymal infiltration. Patients with elevated sIL-2R levels had higher serum ACE and lysozyme levels, a higher incidence of pulmonary involvement, more severe chest radiographic stage and a high incidence of expression-specific signs by imaging analysis. Receiver-operator curve analysis showed that sIL-2R was a better marker at the threshold cut-off point compared with ACE and lysozyme for identifying patients with multiple organ involvement, detecting patients with pulmonary disease and parenchymal infiltration as well as predicting the presence of specific signs in the diagnosis of sarcoidosis. Moreover, the kinetics of sIL-2R levels correlated closely with clinical manifestations, in contrast to the modest changes of ACE and lysozyme levels during the follow-up period. In conclusion, sIL-2R may be considered a good marker for diagnosis and a potential indicator of disease activity., (© 2017 Japanese Dermatological Association.)

We report the case of a 58-year-old man who had an ulcer on the right middle finger that was cured by surgery 4 years before consultation with our department. A few years after the surgery, he noticed recurrence of the ulcer and sclerosis of the skin. At the initial examination, skin sclerosis was observed from the fingers to the upper arms and from the feet to the thighs. Pitting scars on the fingertips and punctured hemorrhages of the nail-fold capillaries were also present. Gastroscopy showed slight reflex esophagitis. Laboratory findings were positive for antinuclear antibody (ANA; 1:640) with a speckled and discrete speckled pattern. Anti-topoisomerase I (anti-topo I) antibody and anti-RNA polymerase III were negative, but anti-centromere antibody was positive in an enzyme-linked immunosorbent assay. Anti-Ku antibody was positive in an immunoprecipitation assay using extracts of the leukemia cell line K562. Therefore, the patient was diagnosed with diffuse cutaneous systemic sclerosis with anti-Ku and anti-centromere antibodies. Treatment with an oral antiplatelet agent, vitamin E, a proton pump inhibitor, and i.v. lipoprostaglandin E1 were started. Subsequently, there has been repeated recurrence of finger ulcers, but no muscle involvement has been detected since his first visit. This is the first reported case of systemic sclerosis with anti-Ku and anti-centromere antibodies., (© 2013 Japanese Dermatological Association.)

Objective: To identify the 140-kd autoantigen recognized by anti-155/140 autoantibodies that are associated with adult cancer-associated dermatomyositis (DM) and juvenile DM and to determine the clinical relevance of anti-155/140 antibodies in a large cohort., Methods: Sera from 456 DM patients were assessed for the presence of anti-155/140 antibodies by immunoprecipitation using K562 cell extracts as substrate. Using immunoprecipitation and Western blotting, we then examined whether anti-155/140-positive sera recognized transcription intermediary factor 1α (TIF-1α), TIF-1β, and TIF-1γ. The clinical associations of antigen reactivity were also evaluated., Results: Anti-155/140-positive sera reacted with 140-kd TIF-1α in addition to 155-kd TIF-1γ. Among sera from 456 DM patients, 52 were reactive with both TIF-1α and TIF-1γ, while another 25 were reactive with TIF-1γ alone. Additionally, 7 were reactive with TIF-1β. Malignancy was more frequently found in adult patients with both anti-TIF-1α and anti-TIF-1γ antibodies than in those with anti-TIF-1γ antibodies alone (73% versus 50%; P < 0.05). In addition to juvenile DM patients and middle-aged and older DM patients with high percentages of malignancy, 8 "young adult" DM patients without malignancy had these autoantibodies., Conclusion: Anti-155/140 antibodies target TIF-1 family proteins, TIF-1α and TIF-1β, in addition to TIF-1γ. Since TIF-1 proteins have significant roles in oncogenesis, these antibodies may be produced during misdirected antitumor immunity., (Copyright © 2012 by the American College of Rheumatology.)