What Is Your Diagnosis?—Case Report Collection

Background/objectives: Stimulator of Interferon Genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disorder caused by gain-of-function mutations in the TMEM173 gene. These mutations result in chronic activation of the STING pathway and excessive type I interferon production, leading to systemic inflammation, vascular abnormalities, interstitial lung disease, and skin ulcerations. Janus kinase (JAK) inhibitors, including baricitinib, have shown promise in mitigating systemic and organ-specific manifestations. However, these inhibitors broadly suppress immune pathways, potentially increasing vulnerability to infections. Case presentation: This case report describes a 21-year-old woman with SAVI (due to a heterozygous TMEM173 mutation) who developed disseminated molluscum contagiosum (MC) while receiving baricitinib therapy. Laboratory results revealed lymphopenia, low CD4/CD8 ratio, and impaired immune cell activity, suggesting compromised antiviral immunity. Discussion: Despite SAVI’s association with excessive type I interferon signaling, this chronic hyperactivation may cause immune dysregulation, exhausting T cells and natural killer cells vital for viral defense. Furthermore, baricitinib suppresses interferon signaling via the JAK-STAT pathway, reducing inflammatory damage in SAVI but also impairing antiviral responses. Moreover, MC viruses evade host immune defenses by antagonizing STING and TANK-binding kinase 1-mediated interferon activation, further contributing to infection risk. This report is the first to document MC in a SAVI patient and highlights the rare complication of disseminated MC due to impaired type I interferon signaling and immune suppression from baricitinib therapy. This case underscores the need for vigilance regarding viral infections in SAVI patients treated with JAK inhibitors. Full article

Background and Objective: Age-related skin changes affect the skin’s structural and functional integrity and reduce the ability of the skin to perform its key barrier functions. Skin breakdown associated with dryness and itch becomes very common and older individuals are at an increasing risk. We aimed to evaluate a daily cleansing–moisturizing routine and conduct a skin assessment for the presence of five underlying skin integrity parameters among aged-care residents. Methods: This small, 6-week evaluation study included four participants over 80 years of age, all of whom were residents at OLC Care, Rocky Point Residence, Beverley Park, NSW, Australia. Skin assessment for the presence of five underlying clinical parameters including itchy skin, dry skin, bruising, skin tears and pressure injuries was conducted for all four participants at baseline and during the evaluation period. Clinical notes were also taken at baseline, during the evaluation and at the post-evaluation. Furthermore, clinical photographs were taken at baseline and after 2–3 weeks of the cleansing–moisturizing routine. Results: Of the four aged-care residents who participated in this evaluation study, all four showed overall improvement in the appearance of the skin with a reduction in severity of the five underlying skin integrity parameters, including itchy skin, dry skin, bruising, skin tears and pressure injuries, where present. Discussion and Conclusions: This case study has produced basic evidence to support a daily cleansing–moisturizing routine (comprising QV cleansers and moisturizers, and/or a protective barrier cream) as it provides moisturizing and protective benefits to the delicate and fragile skin of aged-care residents, where the aim is to reduce skin integrity associated issues. Full article

Background/Objectives: IgA vasculitis, formerly Henoch-Schönlein purpura (HSP), is a form of systemic vasculitis that most commonly affects children. We present a case of hard-to-heal lower extremity lesions in a patient with confirmed IgA vasculitis or HSP. Methods: The patient was serially imaged with a handheld, bacterial autofluorescence imaging device across subsequent visits. Results: Due to the identification of bacterial burden presence that was not clinically evident, the patient was prescribed antibiotics and promptly healed. Conclusions: This case illustrates the value of bacterial fluorescence imaging in dermatological cases. Full article

Actinomycosis, an uncommon granulomatous infection caused by the Actinomyces species, rarely targets as primary involvement the limb and is often linked to traumatic incidents. In this report, we present the case of a 44-year-old female who developed multiple small nodules on her left foot over approximately 12 months. Some nodules exhibited firmness and a violet hue, while others discharged a yellowish fluid. The patient had no significant comorbidities. Despite thorough blood paraclinical assessments, including complete blood count, serological HIV testing, and QuantiFERON-TB Gold testing, no abnormalities were detected. Bacteriological examinations and cultures of the discharge yielded negative results. Dermatoscopic examination revealed ovoid yellowish structures, with confocal microscopy highlighting granulomas. A subsequent skin biopsy confirmed characteristic changes indicative of actinomycosis. Although systemic antibiotic therapy with penicillin derivatives was initially considered, the patient’s documented allergic history to this medication class, verified through allergological testing, prompted the initiation of doxycycline treatment. Notably, significant improvement was observed at the 3-month follow-up. This case underscores the importance of reporting rare instances of actinomycosis due to its diagnostic complexity and management challenges. Full article

Pemphigus vegetans and pemphigus foliaceus are rare autoimmune blistering diseases characterized by the disruption of desmosomal adhesion proteins, particularly desmoglein 3 and desmoglein 1. We report the case of a 62-year-old male who presented initially with scaly red plaques posing several diagnostic challenges. A histopathological examination revealed subcorneal acantholysis, matching the suspected clinical diagnosis of pemphigus foliaceus. The patient progressed, developing vegetating plaques, and a new biopsy was performed. The new histopathological and direct immunofluorescence exams were consistent with pemphigus vegetans. This case highlights the diagnostic challenges posed by the transition of pemphigus foliaceus to its vegetating form. We discuss the role of desmogleins in the pathogenesis of pemphigus and explore potential therapeutic strategies targeting these specific autoantigens. Full article

Adenosquamous carcinoma of the skin (ASCS) or primary cutaneous adenosquamous carcinoma is a rare malignant neoplasm. It is characterized by the presence of both glandular and squamous cell components and a propensity for aggressive clinical behavior. Due to its rarity, it continues to pose diagnostic challenges. To date, only a few cases of this tumor have been reported, and even fewer have been thoroughly investigated via immunohistochemistry. Full article