When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion.

In this case study, we describe a 21-year-old man with erythropoietic protoporphyria who sought medical attention in April 2022 for diffuse edema and erythema of the hands. These symptoms had been present since childhood and usually occurred soon after sun exposure. The patient's medical history showed that chromosome 18's long arm had partially deleted. We performed a number of tests, including measuring total erythrocyte protoporphyrin levels and utilizing a spectrofluorometer to assess the fluorometric emission peak of plasma porphyrins, based on the patient's medical history and clinical symptoms. Furthermore, a genetic analysis identified an intronic variant on one allele, c.315-48T>C (IVS3-48T>C), which is categorized as a susceptibility polymorphism, and a complete deletion of the ferrochelatase gene on the other allele. The patient's clinical condition improved following the June 2022 afamelanotide implant procedure.

Etiology of Chronic Leg Ulcers in a Dermatologic Wound Clinic: A Retrospective Observational Study.

BACKGROUND: Chronic leg ulcers affect approximately 1% to 2% of the European population, with an increasing prevalence. The treatment of chronic wounds is a socioeconomical problem worldwide. PURPOSE: The main purpose of the current investigation was to detect the etiology of leg ulcers treated in a dermatologic wound clinic from January 1, 2010, to December 31, 2019. METHODS: This retrospective observational study was performed at the Dermatologic Clinic of Spedali Civili in Brescia, Italy. The authors enrolled 465 patients with chronic leg ulcers. RESULTS: The 3 most represented causes of ulcers were vascular (238 patients, 51.2%), inflammatory (71 patients, 15.3%) and traumatic (43 patients, 9.3%). Altogether, a total of 13 different entities were identified as a cause of leg ulcer. CONCLUSION: Vascular genesis was the most common etiology of leg ulcers in this population, even though uncommon causes were also represented. These findings are in agreement with other studies reported in the literature.

Randomized Clinical Trial of Conventional versus Indoor Daylight Photodynamic Therapy for Treatment of Actinic Cheilitis.

INTRODUCTION: Actinic cheilitis (AC) is the biologic precursor of invasive squamous cell carcinoma (SCC) of the vermilion, and different treatment options have been investigated, but their efficacy is hampered by local inflammation, pain and slow recovery. Daylight photodynamic therapy (dl-PDT) has been demonstrated to represent a valuable treatment option for AC, but its feasibility is limited by weather conditions and latitude. METHODS: Our study proposed to compare the efficacy and tolerability of conventional photodynamic therapy (c-PDT) and indoor daylight photodynamic therapy (idl-PDT) with a white LED lamp for the treatment of AC. Sixteen patients were enrolled in the study: 8 (50%) treated with c-PDT and 8 (50%) treated with idl-PDT. All patients completed the study protocol. RESULTS: Both idl-PDT and c-PDT were demonstrated to be highly effective in terms of reduction of the cumulative lesional area and severity of the clinical score. Neither treatment was inferior to the other. The inflammatory reaction and the pain scores were milder with idl-PDT, whereas the cosmetic outcome was not different. CONCLUSION: The present findings confirm that idl-PDT can represent a valid therapeutic strategy for AC patients as well, despite the procedural difficulties and the risk of poor tolerability related to the body site.