SAGE Open Medical Case Reports最新文献

Multiple eruptive dermatofibroma is a rare variant of dermatofibroma and often occurs in association with systemic disease, particularly involving immune dysregulation. We present what may be the first reported case of multiple eruptive dermatofibroma in association with monoclonal gammopathy of undetermined significance, a premalignant plasma cell dyscrasia. A 66-year-old male with stable IgM monoclonal gammopathy of undetermined significance developed over 50 asymptomatic papulonodular lesions over two years. Histopathology confirmed dermatofibromas, the timeline of lesion development was consistent with multiple eruptive dermatofibroma, and laboratory evaluation revealed elevated IgM and a monoclonal paraprotein band. This case highlights a novel systemic association between multiple eruptive dermatofibroma and monoclonal gammopathy of undetermined significance. Given the frequent co-occurrence of immune dysregulation in patients with multiple eruptive dermatofibroma, evaluation for underlying systemic immunologic conditions in affected individuals is warranted. Recognition of such associations may facilitate earlier diagnosis and surveillance of systemic disease.

Pyoderma gangrenosum is a rare neutrophilic dermatosis, that is, often recalcitrant to conventional therapies. Biologics targeting specific inflammatory pathways, including IL-17, are emerging as alternative treatment options in refractory cases. We report a case of severe, ulcerative pyoderma gangrenosum in a 78-year-old woman with complex comorbidities, including advanced sarcoma and prior venous thromboembolism, which precluded use of several immunosuppressive agents. The patient was refractory to corticosteroids, dapsone, and roflumilast, and developed recurrent Gram-negative infections. Initiation of brodalumab, an anti-IL-17RA monoclonal antibody, led to rapid ulcer improvement and sustained clinical response, with successful tapering of systemic steroids. Brodalumab may offer a safe and effective treatment option in refractory pyoderma gangrenosum, particularly in patients with contraindications to conventional therapies. This case supports further evaluation of IL-17 pathway inhibition in neutrophilic dermatoses.

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by biallelic pathogenic variants in ETHE1, the gene encoding mitochondrial persulfide dioxygenase, an enzyme crucial for hydrogen sulfide (H₂S) detoxification. Loss of this enzyme results in H₂S accumulation, cytochrome c oxidase inhibition, oxidative stress, and disrupted energy metabolism. Clinically, ethylmalonic encephalopathy manifests during early infancy with developmental delay, hypotonia, progressive encephalopathy, seizures, chronic diarrhea, and microvascular abnormalities such as petechiae and acrocyanosis. Fewer than 100 cases have been reported globally, mostly among Mediterranean and Arab populations, with scarce data from Latin America. We report the first documented case of ethylmalonic encephalopathy in a Mexican patient. The affected male infant, born to healthy nonconsanguineous parents of indigenous Maya origin from Yucatán, presented at 2 weeks of age with persistent hemorrhagic diarrhea, followed by metabolic acidosis, hyperammonemia, hyperlactatemia, elevated C4-acylcarnitine, and increased urinary ethylmalonic acid. Neurological findings included developmental delay, hypotonia, and myoclonic epilepsy. Whole-exome sequencing revealed a homozygous frameshift pathogenic variant in ETHE1 (NM_014297.5):c.19_20dup (p.Val8Glyfs*7), predicted to introduce a premature stop codon and abolish protein function. Despite targeted interventions-antiepileptic therapy, ammonia-lowering treatment, and metabolic support-the patient's condition progressively worsened, culminating in death at 15 months after metabolic decompensation and brain death. This case broadens the known mutational spectrum of ETHE1 by identifying a previously unreported pathogenic variant and underscores the need to include ethylmalonic encephalopathy in the differential diagnosis of infants presenting with chronic diarrhea, vascular lesions, and neurological deterioration, even in regions where the condition is not typically observed.

Sudden sensorineural hearing loss is a condition marked by a rapid decline in hearing, defined as a decrease of 30 dB or more across three adjacent audiometric frequencies within 72 h. It can result from various factors, including ischemic events, infections, or tumors like meningioma and schwannoma, and in rare cases, may be linked to Langerhans histiocytosis, which involves an accumulation of specific immune cells. This document reviews literature and presents a case study of a 24-year-old male from Iran diagnosed with sudden sensorineural hearing loss due to Langerhans cell histiocytosis. The patient, who had diabetes insipidus, showed eosinophil-rich lesions with CD1a-positive, S100-positive, and Cyclin D1-positive cells. After 6 months of chemotherapy, there was no change in hearing levels. This case report underscores the importance of considering an occupying lesion in cases of sensorineural hearing loss, particularly when there are indications of additional paraneoplastic conditions.

We report a rare case of Stevens-Johnson syndrome/toxic epidermal necrolysis as the initial manifestation of paraneoplastic dermatomyositis in a 50-year-old man subsequently diagnosed with diffuse large B cell lymphoma, in the absence of any identifiable drug exposure. The patient presented with periorbital edema, progressive dusky blistering eruption (Nikolsky sign positive), mucositis, and histopathology consistent with Stevens-Johnson syndrome/toxic epidermal necrolysis. Over the following weeks, he developed proximal muscle weakness, elevated creatine kinase, and cutaneous signs of dermatomyositis, including heliotrope rash and Gottron's papules, with serologic confirmation via anti-TIF1-γ antibodies. Imaging revealed a hypermetabolic axillary mass, and excisional biopsy confirmed diffuse large B cell lymphoma. This case highlights a novel presentation of Stevens-Johnson syndrome/toxic epidermal necrolysis in the setting of autoimmune and paraneoplastic immune dysregulation. It underscores the importance of considering nondrug-induced triggers in Stevens-Johnson syndrome/toxic epidermal necrolysis.

We report the case of a 74-year-old Inuit man from Kangiqsualujjuaq, Quebec, with a 10-year history of persistent facial skin changes, reported as "dry skin." Examination revealed violaceous scaly papules on sun-exposed areas that had sandpaper texture on palpation. The patient, with no significant medical history, spends extensive time outdoors in a subarctic environment. A diagnosis of actinic keratoses was made. This case highlights the need to recognize atypical presentations of actinic keratoses in patients with darker skin phototypes and high environmental ultraviolet exposure. Topical 5% fluorouracil was initiated.

Aggregatibacter aphrophilus, a fastidious Gram-negative member of the Haemophilus, Aggregatibacter, Cardiobacterium, Eikenella, and Kingella group, is an exceptionally rare cause of hepatic abscess, particularly in immunocompetent individuals. We describe a case of a healthy, middle-aged man who presented with a 5-day history of cyclical fevers, chills, and night sweats. Computed tomography imaging revealed a solitary hepatic lesion, initially suspicious for malignancy. Magnetic resonance cholangiopancreatography confirmed a hepatic abscess. Culture from a computed tomography-guided aspirate identified A. aphrophilus as the causative organism. Despite empiric broad-spectrum antibiotics and drainage, the patient continued to experience febrile episodes until culture-directed therapy led to clinical resolution. He received 3 weeks of intravenous ceftriaxone 2 g q24 h and PO metronidazole 500 mg q8 h and percutaneous drainage. Upon follow-up with infectious disease, no recurrence was noted upon review of repeat computed tomography imaging. This case highlights the importance of early microbiological identification and targeted treatment, even in healthy hosts.

The proteasome inhibitor bortezomib is widely used in the treatment of multiple myeloma. While peripheral neuropathy and gastrointestinal effects are well-documented adverse reactions to bortezomib administration, cutaneous side effects in patients with multiple myeloma are less commonly reported. We present a patient with IgG kappa multiple myeloma who developed a spider-like and digitate eruption at the site of subcutaneous bortezomib injection. This report expands the spectrum of bortezomib-associated dermatologic toxicity and emphasizes the importance of clinician awareness for prompt diagnosis and management.

Pyoderma gangrenosum is a rare neutrophilic dermatosis often associated with systemic inflammatory or malignant conditions. We report a case of recurrent pyoderma gangrenosum injection site reactions following subcutaneous Maveropepimut-S (previously known as DPX-Survivac), an anti-cancer vaccine, in a 31-year-old woman undergoing immunotherapy for stage 3C ovarian cancer. The diagnosis was confirmed histologically and clinically after repeated ulcerative lesions developed at injection sites. The lesions showed a rapid response to corticosteroid therapy. This case highlights the importance of recognizing pyoderma gangrenosum as a potential cutaneous adverse event in immunotherapy treatments and suggests that timely dermatologic evaluation may help avoid delays in diagnosis and treatment.

Dual biologic therapy is not often used in psoriasis and psoriatic arthritis due to cost and safety concerns, with limited literature supporting its use. We present a case of a 31-year-old man with severe plaque psoriasis and erosive psoriatic arthritis, refractory to multiple therapies. While guselkumab improved skin symptoms, joint inflammation persisted. Given the patient's reluctance to discontinue guselkumab and his poor response to prior therapies, bimekizumab was added. This combination led to near-complete skin clearance and significant joint improvement within 3 months, with sustained benefits and no adverse effects at 17 months. This case illustrates how targeting multiple points in the interleukin-23/interleukin-17 pathway can improve outcomes in patients unresponsive to monotherapy. Dual biologic therapy may be a viable option for select patients with complex disease, though further research is needed to evaluate its long-term safety and efficacy.