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Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. The patient presented with bullous lesions, erosions, scars, and pigmentary changes on the pretibial areas and dystrophic nails. Genetic analysis confirmed the presence of the COL17A1 variant p.Arg795Ter (R795X) mutation, establishing a rare, localized variant of JEB. This case underscores the criticality of early and accurate diagnosis in the management of rare genetic disorders, as misdiagnosis can lead to ineffective treatments.

Introduction: Pemphigus, an autoimmune disorder, significantly impacts the quality of life for those affected. Objective: This study examines the sleep quality in patients with pemphigus, a domain for which the existing literature provides limited data without a focused analysis. Methods: A total of 156 individuals, 52 in the case and 104 in the control group, completed several questionnaires (PSQI, GHQ12, and ABQOL). Disease severity was evaluated using the PDAI scale. Results: The case group exhibited significantly higher levels of psychological distress, reflected in GHQ12 scores (p=0.00), and notably poorer sleep quality compared to controls across various parameters (sleep latency [SL], disturbances [SDi], medication [SM], daytime sleep dysfunction [DSD]), and the global PSQI score (GS)] (p=0.00)]. Significant correlations were observed between PDAI scores and sleep duration (SDu) (p=0.01), SM (p=0.03), SL (p=0.03), and GS (p=0.00). An association was found between the equivalent steroid intake and SDu (p=0.00) as well as GS (p=0.02). No statistically significant correlation emerged between disease duration and PSQI scores. Our findings indicated a correlation between poor sleep quality and cutaneous rather than mucosal manifestations (p=0.01). Pemphigus affects sleep quality. Severe disease showed heightened SDi, correlating with higher steroid doses, and in the chronic phase, the impact seems to be more influenced by the pro-inflammatory stage of the disease. Patients with cutaneous pemphigus exhibit reduced sleep quality compared to those with oral pemphigus. Conclusion: Understanding that pemphigus worsens sleep quality can be beneficial for the holistic management of individuals with this condition.

Eosinophilic Fasciitis (EF) poses a diagnostic challenge owing to its uncommon occurrence and aetiology that remains poorly understood. We report a case of a 79-year-old woman with a prolonged history of breast cancer exhibiting EF with concomitant pelvic metastases. This case underscores EF's potential as an indicator signaling a potential resurgence of cancer, highlighting its significance as a red flag of disease recurrence.

BackgroundSince the early 1990s, Ultraviolet (UV) A1 phototherapy has been described as an effective and safe treatment of a multitude of skin disorders. However, after 30 years, its use has remained limited to few dermatological centers.ObjectiveTo analyze the changes over the years and the current position of UVA1 phototherapy through a Real-World Evidence (RWE) study at a single tertiary referral center.MethodsWe reviewed the medical files of 740 patients treated between 1998 and 2022. Treatment results were collected, efficacy was assessed by a grading scale and acute adverse effects were registered.ResultsWe treated patients with 26 different diseases. We registered marked improvement (MI) or complete remission (CR) in 42.8% of patients with morphea, 50% with Urticaria Pigmentosa, 40.7% with Granuloma annulare and 85.7% with skin sarcoidosis. Good results were obtained also in the treatment of chronic Graft Versus Host Disease (GVHD), Eosinophilic Fasciitis, Sclero-atrophic Lichen, skin manifestations of systemic lupus erythematosus and psoriasis of HIV+ patients. Systemic Sclerosis, Romberg’s Syndrome, Bushke’s Scleredema, Nephrogenic Fibrosing Dermopathy, REM Syndrome, Follicular Mucinosis, Pretibial Myxedema, Scleromyxedema, pemphigus foliaceus, chronic cutaneous lupus erythematosus, erythroderma of Netherton Syndrome and Necrobiosis Lipoidica were no or poorly responsive. In clinical indications where UVA1 was used as a second line phototherapy after narrow-band (NB)-UVB, we saw good MI or CR rates in Mycosis Fungoides (57% of patients), Atopic Dermatitis (33.9%), Pitiryasis Lichenoides chronica (50%), Pityriasis Lichenoides et varioliformis acute (75%) and Lymphomatod Papulosis (62.5%). Short-term adverse events were uncommon and mild.ConclusionOver the past decade, the annual number of treated patients has progressively declined for several reasons. Firstly, UVA1 phototherapy has taken a backseat to the cheaper and more practical NB-UVB phototherapy, which has proven effective for common indications. Secondly, the emergence of new, safe, and effective drugs for conditions such as atopic dermatitis, GVHD, and connective tissue disorders. Finally, our research has shown that UVA1 therapy is often ineffective or minimally effective for some rare diseases, contrary to previous case reports and small case series. Nonetheless, UVA1 continues to be a valuable treatment option for patients with specific skin disorders.