Porphyrias are predominantly genetic metabolic disorders caused by dysregulation of specific enzymes in porphyrin-heme biosynthesis. The enzymatic dysfunction leads to formation and excretion of intermediate metabolic products in the form of porphyrins and/or their precursors δ‑aminolevulinic acid and porphobilinogen, which have cyto- and tissue-toxic properties. Clinically, porphyrias are extremely diverse, with symptoms ranging from skin changes on light-exposed areas of the body to potentially life-threatening neurovisceral attacks. Biochemical tests in urine, blood and stool are used for diagnosis, which can be supplemented by molecular genetic analyses. Treatment of the various forms of porphyria is complex and often requires close interdisciplinary cooperation between different medical specialties.
UNASSIGNED: Die Porphyrien sind vorwiegend genetisch bedingte metabolische Erkrankungen, die auf einer Dysregulation spezifischer Enzyme der Porphyrin-Häm-Biosynthese beruhen. Durch die enzymatische Dysfunktion kommt es zur Bildung und Exkretion intermediärer Stoffwechselprodukte in Form von Porphyrinen und/oder deren Vorstufen δ‑Aminolävulinsäure und Porphobilinogen, die zyto- und gewebetoxische Eigenschaften haben. Klinisch sind die Porphyrien äußerst vielgestaltig, wobei die Symptome von Hautveränderungen an den lichtexponierten Körperarealen bis hin zu potenziell lebensbedrohlichen neuroviszeralen Attacken reichen. Diagnostisch kommen biochemische Untersuchungen in Urin, Blut und Stuhl zum Einsatz, die durch molekulargenetische Analysen ergänzt werden können. Die Therapie der verschiedenen Porphyrieformen ist komplex und erfordert häufig eine enge interdisziplinäre Zusammenarbeit verschiedener medizinischer Fachrichtungen.

UNASSIGNED: Amidst the emergence of new therapeutic options, traditional therapeutic plasmapheresis (TPE) used in diseases involving a toxic substance in the plasma, remains a viable alternative for cases of recalcitrant solar urticaria (SU). We emphasize the importance of documenting successful experience with repeated plasmapheresis to increase awareness amongst physicians and dermatologists regarding this effective treatment option.
UNASSIGNED: We reported a case of recalcitrant SU that had not responded to a combination of H1-antihistamines, immunosuppressants, omalizumab and intravenous immunoglobulin. We introduced serial TPE, which involved two consecutive days of procedures for each course was introduced. We detailed the regimen and highlighted the clinical and objective benefits observed with multiple treatments. Additionally, we compared this to other plasmapheresis regimens and their treatment responses previously reported for solar urticaria.
UNASSIGNED: Our patient underwent serial TPE, totaling 42 procedures over five years. Following the last TPE session, phototesting showed a sustained prolongation of minimal urticating doses (MUDS), which exceeded the maximum tested doses across nearly all ultraviolet (UV) and visible light ranges, with the exception of the two short ultraviolet B (UVB) wavelengths. MUDs increased to 25 from 6 mj/cm2 at 307.5± 5nm, and to 500 from 15 mj/cm2 at 320 ± 10nm, before the initial TPE. In our review, we included five articles covering eight SU patients who received TPE. Of these, the five patients with positive intradermal tests responded particularly well immediately after treatment. However, the condition relapsed within two weeks in one patient and within two months in another. In contrast, the other three patients with negative intradermal tests, showed no significant benefits from the treatment. No serious side effects from TPE were reported amongst the patients.
UNASSIGNED: This review underscores the efficacy of serial plasmapheresis procedures in treating refractory cases of SU, high3lighting the robust results observed.

暂无摘要。

Solar urticaria is a rare idiopathic photodermatosis. According to the current knowledge its pathogenesis is most likely based on an allergic type I reaction to an autoantigen activated by ultraviolet (UV) radiation or visible light. As many of the patients suffer from severe forms of the disease, it may therefore severely impair the quality of life of those affected. In contrast, polymorphous light eruption is a very common disease, which, according to the current data, can be interpreted as a type IV allergic reaction to a photoallergen induced by UV radiation. As the skin lesions heal despite continued sun exposure, the patients\' quality of life is generally not significantly impaired. These two clinically and pathogenetically very different light dermatoses have shared diagnostics by means of light provocation and an important therapeutic option (light hardening). Herein, we present an overview of the clinical picture, pathogenesis, diagnosis and available treatment options for the above-mentioned diseases.
UNASSIGNED: Lichturtikaria ist eine seltene idiopathische Lichtdermatose, deren Pathogenese nach aktuellem Wissensstand am ehesten auf einer allergischen Typ-I-Reaktion gegenüber einem durch ultraviolette (UV) Strahlung oder sichtbares Licht aktivierten Autoantigen beruht. Schwere Verlaufsformen sind möglich, die Erkrankung kann daher die Lebensqualität der Betroffenen stark beeinträchtigen. Im Gegensatz hierzu handelt es sich bei der polymorphen Lichtdermatose um eine sehr häufige Erkrankung, die gemäß der aktuellen Datenlage als eine allergische Typ-IV-Reaktion gegenüber einem durch UV-Strahlung induzierten Photoallergen interpretiert werden kann. Da die juckenden Papeln, Bläschen oder Plaques bei fortgesetzter Sonnenexposition mit hieraus resultierender Ausbildung einer Lichtschwiele abheilen, ist die Lebensqualität der Patienten in der Regel geringfügiger und eher kurzfristig beeinträchtigt. Gemeinsam ist diesen beiden klinisch und pathogenetisch sehr unterschiedlichen Photodermatosen, dass die jeweilige Diagnose mittels Lichtprovokation bestätigt werden kann und dass das sogenannte Licht-Hardening eine wichtige Therapieoption darstellt. Die vorliegende Arbeit präsentiert eine Übersicht über das klinische Bild, die Pathogenese, Diagnostik und die verfügbaren Therapieoptionen beider Erkrankungen.

Actinic prurigo is a rare photodermatosis characterized by pruritic papulonodular lesions. Treatment is challenging, especially in children, as sun protection strategies need to be rigorously implemented and symptoms often persist throughout the year. Herein, we present a case of actinic prurigo in an 8-year-old patient with rapid and successful relief with baricitinib.

暂无摘要。

BACKGROUND: A few patients report intense pain and other unpleasant sensations, such as burning, dysesthesia and hyperalgesia, after even brief exposure to the sun and in the absence of any skin lesion. Sometimes they also develop systemic symptoms, such as mild fever, fatigue, faintness and fainting. As a result, these patients carefully avoid even short-term sun exposure with a consequent severe negative impact on their lives.
METHODS: We have reviewed the clinical findings and the results of photobiological investigations of 10 patients who presented this clinical picture. Six of these patients were previously described by our group with the diagnosis of sun pain. We have reviewed the similarities with other previously described disorders such as solar dysesthesia and PUVA pain and have evaluated possible pathogenetic mechanisms.
RESULTS: During phototesting our patients experienced intense pain in the exposed area and in the surrounding skin, without any visible lesion, even with very low sub-erythemal doses. At follow-up, five patients were diagnosed with fibromyalgia, three with a major depressive disorder, one with bipolar syndrome and one with a conversion disorder. The pathogenesis remains unclear, but the use of a psychopharmacological treatment with antidepressants improved both the neuropsychiatric symptoms and sensitivity to the sun in most subjects.
CONCLUSIONS: For patients with pain and other severe symptoms in the absence of skin lesions and clinical and laboratory manifestations of known photodermatoses, a neuropsychiatric evaluation should be suggested.

In this report, a case of disseminated actinic granuloma in a 50-year-old female with type 2 diabetes mellitus is described. This case is unique due to the unusually extensive cutaneous involvement of the face, neck, trunk, and extremities at initial presentation. The lesions were in a striking photo-distribution, highlighting ultraviolet light as an important environmental trigger for this process. Interestingly, the patient refused the recommended systemic therapy with hydroxychloroquine, despite her significant burden of skin disease. This refusal stems from an unexpected reluctance on the part of the patient to take this medication due to the publicity and media coverage of side effects associated with inappropriate prescribing of this drug during the COVID-19 pandemic, presenting a new and surprising treatment barrier that clinicians may need to overcome.

暂无摘要。

The skin barrier and its endogenous protective mechanisms cope daily with exogenous stressors, of which ultraviolet radiation (UVR) poses an imminent danger. Although the skin is able to reduce the potential damage, there is a need for comprehensive strategies for protection. This is particularly important when developing pharmacological approaches to protect against photocarcinogenesis. Activation of NRF2 has the potential to provide comprehensive and long-lasting protection due to the upregulation of numerous cytoprotective downstream effector proteins that can counteract the damaging effects of UVR. This is also applicable to photodermatosis conditions that exacerbate the damage caused by UVR. This review describes the alterations caused by UVR in normal skin and photosensitive disorders, and provides evidence to support the development of NRF2 activators as pharmacological treatments. Key natural and synthetic activators with photoprotective properties are summarized. Lastly, the gap in knowledge in research associated with photodermatosis conditions is highlighted.