Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation.

This case report describes a man in his 20s with 3C/Ritscher-Schinzel syndrome who presented to the dermatology department after developing multiple skin lesions.

Targeting IL-36 in Inflammatory Skin Diseases.

Interleukin (IL)-36 cytokines are members of the IL-1 superfamily of cytokines. IL-36 cytokines are composed of three agonists (IL-36α, IL-36ß, and IL-36γ) and two antagonists (IL-36 receptor antagonist [IL36Ra] and IL-38). These work in innate and acquired immunity and are known to contribute to host defense and to the pathogenesis of autoinflammatory diseases, autoimmune diseases, and infectious diseases. In the skin, IL-36α and IL-36γ are mainly expressed by keratinocytes in the epidermis, although they are also produced by dendritic cells, macrophages, endothelial cells, and dermal fibroblasts. IL-36 cytokines participate in the first-line defense of the skin against various exogenous assaults. IL-36 cytokines play significant roles in the host defense system and in the regulation of inflammatory pathways in the skin, collaborating with other cytokines/chemokines and immune-related molecules. Thus, numerous studies have shown IL-36 cytokines to play important roles in the pathogenesis of various skin diseases. In this context, the clinical efficacy and safety profiles of anti-IL-36 agents such as spesolimab and imsidolimab have been evaluated in patients with generalized pustular psoriasis, palmoplantar pustulosis, hidradenitis suppurativa, acne/acneiform eruptions, ichthyoses, and atopic dermatitis. This article comprehensively summarizes the roles played by IL-36 cytokines in the pathogenesis and pathophysiology of various skin diseases and summarizes the current state of research on therapeutic agents that target IL-36 cytokine pathways.

Shoshin beriberi in a young man with gambling addiction.

We report a case of a 24-year-old previously healthy Japanese man who presented to the emergency department due to cardiopulmonary arrest lasting for 4 min. He had complained of chest pain and worsening dyspnea but was well until 3 days before admission. He had no history of alcohol consumption. Marked lactic acidosis, high-output heart failure, and hypotension with widened pulse pressure led to a diagnosis of shoshin beriberi. The patient recovered successfully without any residual symptoms after appropriate thiamine therapy. Because of the complexity of the clinical presentation and the lack of rapid diagnostic tests, thiamine deficiency remains difficult to diagnose. In this patient, we suspected that shoshin beriberi was caused by long-term poor nutritional status secondary to a severe gambling addiction to Japanese pinball games, known as 'pachinko'. Alcoholism, long-term intravenous alimentation, and diuretic use are well-known causes. We should not miss the opportunity for early intervention, even in young non-alcoholic patients such as this case. If left untreated, patients may die from cardiopulmonary collapse within hours of symptom onset. Thiamine should be administered as soon as suspicion for thiamine deficiency arises, such as in conditions of widened pulse pressure in a young patient. Learning objective: Alcoholism, long-term intravenous alimentation, and diuretic use are well-known causes of thiamine deficiency. However the complexity of the clinical presentation and the lack of rapid diagnostic tests make its diagnosis difficult. Shoshin beriberi is a fulminant form of this disease. We should not miss opportunities for early intervention. Thiamine should be administered as soon as its deficiency is suspected, such as in conditions of widened pulse pressure especially in a young patient.

Multiple diagnostic examinations are effective for the early diagnosis of scrofuloderma.

Although scrofuloderma is the most common subtype of cutaneous tuberculosis, its diagnosis is often delayed. In this case, ciprofloxacin was first administered as only Pseudomonas aeruginosa was detected by initial culture tests. Mycobacterium tuberculosis is usually susceptible to quinolone antibiotics, hence the partial improvement in inflammatory symptoms and subsequent delay in diagnosis. Our case serves as a reminder that we should always be aware of the possibility of cutaneous tuberculosis being the cause of an abscess, especially when the abscess is not completely resolved by antibiotics. Moreover, our case reminds us that it is necessary to conduct repeated culture tests, rather than relying purely on polymerase chain reaction (PCR) results, given that cases of PCR-negative acid-fast bacilli (AFB) culture-positive scrofuloderma have been reported. Fine needle aspiration is a less invasive and useful way to collect culture samples.

COVID-19 infection- and vaccination-related exacerbation of Darier's disease in a single patient.

Darier's disease (DD) is a rare autosomal dominantly inherited disorder. DD patients usually present with widespread keratotic eruptions with itching in the seborrheic regions that are exacerbated by various factors, including heat, sweat, and physical trauma. The SARS-CoV-2 (COVID-19) pandemic has stirred confusion among the medical community, including dermatologists, as this infection has been implicated in various skin conditions. Only a handful of reports have documented DD associated with COVID-19. Here, we report a 30-year-old male with Darier's disease whose symptoms were exacerbated following both COVID-19 vaccination and COVID-19 infection. The patient had noticed slight eruptions 7 years prior, but was not particularly concerned. After COVID-19 vaccination and infection, he had erythematous maculopapular lesions in large areas of the trunk and extremities. The previously reported pathogenic variant c.2255_2257del (p.(Ile752_Tyr753delinsAsn)) in ATP2A2 was detected in the present patient. Oral etretinate greatly improved his DD manifestations. As far as we know, the present patient is the first genetically confirmed DD case who showed both COVID-19 infection- and vaccination-related DD exacerbations independently. We think that the further accumulation of DD cases exacerbated by COVID-19 infection/vaccination is needed to clarify the mechanisms of DD aggravation.