Skin health and disease最新文献

Background: Generalized pustular psoriasis (GPP) is a chronic and potentially life-threatening inflammatory disease characterized by recurrent, sudden flares often accompanied by systemic symptoms. With the introduction of new, targeted therapies for GPP there is an increased need to better understand patient characteristics to improve disease management.

Objectives: To assess the epidemiology of GPP, and compare clinical characteristics, treatments and overall survival between GPP and population-based controls and control participants with psoriasis vulgaris. Furthermore, flare occurrence and risk factors for flares were also assessed.

Methods: All Finnish patients with ≥1 GPP diagnosis (International Classification of Diseases, Tenth Revision: L40.1) in secondary healthcare between 1996 and 2021 and age- and sex-matched control groups were identified. Data on diagnoses, medications and deaths were collected from national registers. Incidence and prevalence were assessed using different case criteria. The primary analysis group included patients with ≥2 GPP diagnoses at a dermatology clinic in specialty care.

Results: GPP period prevalence decreased from 9.9 to 4.7 and the incidence rate from 4.2 to 2.1 per 100 000 when using stricter case criteria. Psoriasis (73%) and hypertension (49%) were the most common comorbidities among patients with GPP, and topical corticosteroids were the most used medication (92%; P < 0.05 vs. control groups). Overall survival was lower in GPP compared with both control groups (P < 0.001). In total, 43% of the patients experienced a flare during follow-up, of which one-third (33%) had a flare at the time of first GPP diagnosis. Systemic corticosteroid use [hazard ratio (HR) 1.41; 95% confidence interval (CI) 1.10-1.81; P = 0.007] was associated with a higher risk of GPP flares and flares were associated with an increased risk of death (HR 1.7; 95% CI 1.08-2.60; P < 0.05).

Conclusions: The epidemiology of GPP in Finland was found to be comparable to previously published estimates and associated with a high disease burden and shorter overall survival. Flares occurred frequently during follow-up and are associated with an increased risk of death. Standardized guidelines are crucial to improve the timely diagnosis and management of the disease.

A 30-year-old Japanese woman who had suffered from atopic dermatitis (AD) since childhood was referred for the evaluation of itchy erythema in sun-exposed regions, which persisted for 3 years. Phototesting revealed that the minimal erythema dose (MED) to ultraviolet (UV)B radiation was 20 mJ cm^-2 and MED to UVA radiation was 10 J cm^-2. Phototesting with visible light revealed no positive reaction. The skin lesion was diagnosed as chronic actinic dermatitis (CAD). She was asked to strictly avoid exposure to sunlight; thereafter, her skin symptoms disappeared. There have been 18 reported cases of CAD developing in patients with AD, including our patient. Interestingly, CAD appeared before the age of 30 years in 15 of the 18 cases, suggesting that the age of onset of CAD in patients with AD may be younger than that in typical patients with CAD. Accordingly, we recommend performing phototesting on patients with AD with features of photoaggravated dermatitis to diagnose photosensitivity and provide appropriate management.

Background: Male genital lichen sclerosus is a relatively uncommon but increasingly recognized cause of phimosis in paediatric patients.

Objectives: To investigate the presence of male genital lichen sclerosus (MGLS) in paediatric patients presenting with phimosis and to evaluate the diagnostic accuracy of clinical assessment compared with histopathological findings.

Methods: We conducted a single-centre, retrospective study of 48 paediatric circumcisions performed for phimosis over an 18-month period. Clinical diagnoses of phimosis were categorized as physiological or pathological and compared with postoperative histopathological findings. To quantify diagnostic reliability, percentage agreement and Cohen's kappa coefficient were used.

Results: MGLS was confirmed histologically in 71% of patients, with the highest proportion occurring in boys aged 9-11 years. Among those clinically diagnosed with physiological phimosis, 70% showed histological evidence of MGLS, of whom 48% exhibited extensive disease. The overall concordance between clinical and histological diagnoses was 43.75%, with a Kappa value of 0.027, indicating only slight agreement.

Conclusions: Currently, clinical assessments seem to underestimate the proportion of cases with MGLS, especially among younger boys. Enhancing awareness and recognition of this condition is essential to facilitate accurate and timely diagnosis, and to guide appropriate interventions, thereby preventing disease progression and reducing associated morbidity.

In our clinical case, the patient, affected by morphea, reported an excellent response to the administration of baricitinib 4 mg day^-1, with rapid disappearance of itching and reduction of the erythematous-infiltrative component of the plaques, highlighting the important role of the JAK/STAT pathway in TGF-β-mediated profibrotic signalling.

The TREATgermany registry was set up in 2016. We provide results on long-term dupilumab therapy in adults with moderate and severe atopic dermatitis (AD) in a routine care setting. The analysis cohort of 294 patients is one of the largest cohorts with 2-year follow-up data on treatment effects of dupilumab obtained from an AD registry to date. We report the Harmonising Outcome Measures for Eczema (HOME) core outcome set. The Eczema Area Severity Index (EASI) 75 and EASI 90 response rates for patients on treatment at month 24 were 78.8% and 51.2%, respectively.

Melanoma is the most aggressive form of common skin cancer and recurrence, while rare, typically presents as pigmented papules or nodules near the primary site. Here, we describe a case of a woman with stage IIIC melanoma undergoing intralesional talimogene laherparepvec (T-VEC) therapy who developed a spreading erythematous rash on her left leg, accompanied by fatigue and leg swelling. Skin biopsy revealed recurrent melanoma, with SOX10 and Melan-A positivity, and imaging showed features concerning for multifocal disease recurrence in the left popliteal fossa. This case highlights an unusual presentation of melanoma recurrence and underscores the importance of biopsy in -evaluating new skin findings in patients with a history of melanoma.

A 58-year-old man presented with an enlarging painful ulcer on his left medial knee. He had a history of psoriatic arthritis, treated with methotrexate and adalimumab for the last 5 years. He had travelled to over 20 countries in the past 2 years, and his hobbies included scuba diving and seawater/freshwater swimming. He recalled freshwater swimming in a cave lake in Brazil 1 year prior. Subsequently, he developed small erythematous papules on each knee with rapid resolution on the right knee. The left knee lesion slowly enlarged, and he sought medical attention in Ireland 9 months later. He received antibiotics and topical steroids, and was switched from adalimumab to infliximab for a presumed diagnosis of pyoderma gangrenosum. The lesion's growth accelerated over 8 weeks, leading to an acute presentation to the Emergency Department with severe pain and limited mobility. On examination, he had a 20 × 10 cm erosive plaque on his left knee with an exudative base and a ragged erythematous edge. He also had a 2.5 × 2 cm ulcerative lesion on his right flank and a hyperpigmented patch on his right knee. He denied fevers or systemic symptoms. Interferon-γ release assay was positive. A skin biopsy from the left leg demonstrated ulceration, mixed inflammation and underlying dermal necrosis. Necrotizing granulomas were seen, and both auramine and Ziehl-Neelsen stains were positive for abundant acid-fast bacilli. Skin biopsy from the right flank showed similar findings. A mycobacterial culture was incubated at 30°C and after 4 weeks, Mycobacterium marinum was identified. Mycobacterium marinum is a free-living, slow-growing, nontuberculous mycobacterium found in cold and warm fresh and saltwater environments. It can cause a tuberculosis-like disease in fish and can opportunistically infect humans when injured skin is exposed to a contaminated aqueous environment. The typical presentation is a 'fish tank granuloma': nodules, plaques or ulcerated lesions that spread in a sporotrichoid pattern along lines of lymphatics, commonly on the upper limb. This case represents a highly unusual cutaneous M. marinum presentation, with noncontiguous ulcerative lesions in an immunocompromised host. The diagnostic delay highlights the challenges of recognizing atypical nontuberculous mycobacterial infections, particularly in patients who are immunosuppressed.

Background: Wound healing is often followed by postinflammatory hyperpigmentation (PIH), which commonly develops in sebum-poor areas.

Objectives: To investigate the effects of sebum on wound healing, especially relative to basement membrane recovery and PIH.

Methods: Using 100% trichloroacetic acid, we created deep dermal wounds on both sides of male HRM-2 hairless melanin-containing mice. The left side served as the control group, while the right side received daily sebum application for 21 days. The wound healing status and degree of pigmentation were evaluated by visual wound assessments and image analyses. Histological analysis and electron microscopy (EM) examinations were performed on days 7, 14 and 21, to compare basement membrane recovery and pigmentation.

Results: The sebum group exhibited faster wound healing, including quicker crust removal and wound contraction, and reduced pigmentation, although this difference was not statistically significant. Histological and EM analyses seemed to show accelerated basement membrane recovery and delayed onset of melanosome accumulation with sebum treatment. We also performed cell viability and melanin contents assays using B16F10 melanoma cells, revealing that sebum decreased melanogenesis by inhibiting tyrosinase activity, without cytotoxicity.

Conclusions: Overall, our results suggest that sebum might promote wound healing, with faster basement membrane recovery, and reduce PIH.

We report a rare case of coexisting elastosis perforans serpiginosa and acquired cutis laxa in a patient with Wilson's disease following prolonged penicillamine therapy. This represents two rare but important dermatologic complications of long-term chelation therapy that clinicians should be aware of, given the potential for underlying elastin disruption to also affect systemic tissues.

Xeroderma pigmentosum (XP) is a rare genetic disorder associated with defective DNA repair, leading to extreme ultraviolet sensitivity and a significantly elevated risk of malignancies. This case report details a patient with XP and metastatic melanoma who achieved complete clinical remission with pembrolizumab, highlighting the potential efficacy of immune checkpoint inhibitors in tumours with high mutational burdens. These findings underscore a promising therapeutic avenue for this vulnerable population with limited treatment options.