Reticular erythematous mucinosis is a rare and persistent form of primary idiopathic mucinosis, often referred to as plaque-like cutaneous mucinosis or midline mucinosis. It presents with reticulate patches or erythematous plaques with predilection for the anterior and posterior trunk. Affected patients are frequently asymptomatic. Pruritus or burning sensations were reported after exposure to the sun. The aetiology remains obscure; its pathogenesis is poorly understood, particularly in immunocompromised patients such as HIV-infected patients. The disease associations are not uniformly documented. Antimalarial agents significantly improve and shorten the course of the disease. We report a case of a 31-year-old African woman with underlying HIV infection who displayed the classical clinical and histological features of reticular erythematous mucinosis. This condition is rare among the HIV-infected patients, particularly in those of African descent, in whom lichen myxoedematosus/scleromyxoedema variants and acral persistent papular mucinoses were most frequently reported. The higher incidence of photosensitivity in HIV-infected individuals including the patients with skin of colour may play a potential role in reticular erythematous mucinosis. Its relationship with lupus erythematosus and photosensitivity in the context of HIV infection is discussed. To the best of our knowledge, this is the first reported case of reticular erythematous mucinosis in an African HIV-infected patient. This case highlights the need for diagnostic awareness in cases presenting with erythematous plaques and patches in a net-like pattern developing on the midline and sun-exposed areas of the trunk.

BACKGROUND: Ultraviolet radiation (UVR) exposure is commonly reported as a risk factor for Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). However, minimal evaluation of photo-induced SJS/TEN has been conducted. Thus, this review identifies all cases of SJS/TEN that are linked to an acute exposure of UVR and outlines the unifying characteristics of these cases. Furthermore, the theoretical pathogenesis, differential diagnoses, and proposed diagnostic criteria are defined.
METHODS: PubMed, Google Scholar, and other databases and websites were searched from inception to September 2021 to identify studies that met inclusion criteria. The following keywords were utilized: \"Stevens-Johnson syndrome\" and \"toxic epidermal necrolysis\" with \"ultraviolet,\" \"photodistributed,\" \"photo-induced,\" \"photosensitivity,\" and \"photo.\" One reviewer assessed study characteristics, with confirmation by a second. The risk of bias was assessed independently by another.
RESULTS: Thirteen patient cases were identified, all reporting ultraviolet radiation prior to rash onset and an underlying causal drug. Case classifications included 7/13 SJS and 6/13 TEN. All cases described the rash as photodistributed with UVR exposure prior to rash onset (delay of 1-3 days) and a causal drug. 10 cases provided evidence that the photodistributed rash lacked linear demarcation (as in a sunburn) with satellite target-like lesions. No cases described a flu-like prodrome.
CONCLUSIONS: Mucositis, palmar and plantar rash, a positive Nikolsky sign, and a prolonged disease course can help distinguish from photosensitive reactions, while a negative direct immunofluorescence test is important to distinguish from other photo-induced disorders.
CONCLUSIONS: Physicians should be aware that UVR may precipitate SJS/TEN in patients taking susceptible drugs. After a 24-h delay from UVR exposure, a non-distinct, photodistributed rash appears with no flu-like prodrome and progresses for at least 48 h to include vesiculobullous eruptions and mucous membrane involvement. Photodistributed SJS/TEN appears to be photo-drug-induced with a unique onset and rash presentation that should be recognized as a distinct diagnosis.

Severe skin pain when exposed to long wave ultraviolet radiation or visible light is the main symptom of erythropoietic protoporphyria (EPP). Treatment options for EPP are inadequate and new treatments are needed but hampered by the lack of valid efficacy outcomes. Phototesting with well-defined illumination of the skin can be performed reliably. We aimed to provide an overview of phototest procedures used to evaluate EPP treatments. Systematic searches of Embase, MEDLINE and the Cochrane Library were performed. Searches identified 11 studies using photosensitivity as efficacy outcome. The studies used eight different phototest protocols. Illuminations were performed with a filtered high-pressure mercury arc, or a xenon arc lamp equipped with monochromator or filters. Some used broadband, others narrowband illumination. In all protocols phototests were performed on the hands or the back. Endpoints were minimal dose required to induce either first symptom of discomfort, erythema, urticaria or intolerable pain. Other endpoints were change in erythema intensity or diameter of any type of flare after exposure compared to before. In conclusion, protocols displayed extensive variability in illumination set-up and evaluation of phototest reactions. Implementation of a standardized phototest method will allow more consistent and reliable outcome evaluation in future therapeutic research of protoporphyric photosensitivity.

UNASSIGNED: The objective of this study was to better understand the clinical features of photosensitive epilepsy (PSE) in Chinese children.
UNASSIGNED: Thirty-one children with PSE were screened out of 398 children with epilepsy who were consecutively diagnosed by the video-electroencephalogram (VEEG) monitoring method and by using an intermittent photic stimulation (IPS) test. Their EEGs and clinical features were retrospectively analyzed, and their treatment outcomes were followed up.
UNASSIGNED: PSE accounted for 7.79% (31/398) of children with epilepsy during the observation period in our single epilepsy center. The male to female ratio of PSE was 1:3.43, and the average seizure onset age was 7.8 ± 3.28 years. The highest range of frequency sensitivity of the IPS test for the induction of EEG epileptic discharge or electroclinical seizures was within 10-20 Hz. Electroclinical seizures were induced in 41.94% (13/31) of PSE patients by using the IPS test, while EEG discharge without clinical seizures was induced in 58.06% (18/31) of PSE patients. Among all PSE patients, an IPS-positive reaction in the eye-closure state was induced in 83.87% of patients, and this rate was significantly higher than that in the eye-opened state (41.94%) or eye-closed state (35.48%). (Eye-closure IPS stimulation means: make the subjects close their eyes at the beginning of each stimulation, open their eyes at the end of the stimulation, and close their eyes again at the beginning of the next stimulation, and so on. While Eye-closed IPS stimulation means the stimulation is started after 5 s of eye closure, and the subjects are kept closed throughout the whole process.) The common and effective drugs used for single or combined therapy in PSE children were valproic acid and levetiracetam.
UNASSIGNED: This study provides some useful information about electroclinical characteristics in a cohort of 31 PSE children. It may be beneficial for pediatric neurologists in terms of paying more attention to PSE and correctly dealing with it.

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by skin photosensitivity caused by accumulation of protoporphyrin IX. We aimed to review the clinical evidence of efficacy and safety of skin photosensitivity treatments in individuals with EPP or XLP. We systematically searched MEDLINE, Embase, the Cochrane Library, and ClinicalTrials.gov. A total of 40 studies with data on 18 treatment modalities were included. Comprehensive treatment safety data were obtained from the European Medicines Agency and the United States Food and Drug Administration. The studies used different outcome measures to evaluate the sensitivity without a generally accepted method to assess treatment effect on skin photosensitivity. Of the included studies, 13 were controlled trials. Gathered, the trials showed moderate positive effect of inorganic sunscreen application and subcutaneous implant of afamelanotide and no effect of organic sunscreen application, or oral treatment with beta-carotene, cysteine, N-acetylcysteine, vitamin C, or warfarin. Studies without control groups suggested treatment effect of foundation cream, dihydroxyacetone/lawsone cream, narrow-band ultraviolet B phototherapy, erythrocyte transfusion, extracorporeal erythrocyte photodynamic therapy, or oral treatment with zinc sulphate, terfenadine, cimetidine, or canthaxanthin, but the real effect is uncertain. Assessment of treatment effect on photosensitivity in patients with EPP or XLP carries a high risk of bias since experienced photosensitivity varies with both weather conditions, exposure pattern, and pigmentation. Controlled trials of promising treatment options are important although challenging in this small patient population.

Xq25 microduplication involving exclusively STAG2 is a new distinctive cohesinopathy including mild to moderate intellectual disability, speech delay and facial dysmorphism. Seizures seem to be scarce, but detailed seizure type descriptions are missing. We report the case of an 8-year-old boy with mild intellectual disability and eyelid myoclonia with onset at age of 3 years, initially misinterpreted as tics. An ictal VIDEO-EEG documented eye closure elicited generalized 3 Hz spike-waves or polyspike-waves concomitant to eyelid myoclonia, sometimes associated to brief clinically observable absences. Intermittent photic stimulation revealed a photoparoxysmal response. Array CGH identified a 199 kb copy number gain in Xq25 including the whole STAG2 gene, inherited from his asymptomatic mother. To the best of our knowledge, this is the first case of STAG2 encephalopathy fulfilling all electroclinical criteria for epilepsy with eyelid myoclonia and absences (EMA), formally named Jeavons syndrome (JS). As for other Genetic Generalized Epilepsy syndromes, EMA/JS usually occurs in normally developing children. Intellectual disability of variable degree is occasionally reported. On the background of other genes responsible for Developmental and Epileptic Encephalopathies, linked to specific generalized seizure types or seizure combinations, we discuss the contribution of pathogenic variants in CHD2, SYNGAP1 and some other genes as, RORB, NEXMIF and KCNB1 to this peculiar EMA phenotype.

Although the most frequent presentation of adverse drug events amongst HIV- infected individuals is skin rash, photosensitivity is uncommon. We herein described an HIV-infected female who presented with photo-distributed annular target-like eruptions and small tense blisters. Our patient had objectively reduced erythemal thresholds on broadband UV phototesting, to both UVA and UVB. Resolution of the abnormal responses on retesting undertaken after cessation of the tenofovir disoproxil fumarate and efavirenz in mixed formulation for five months confirmed a diagnosis of drug-induced photosensitivity. Given the preferred first-line anti-retroviral therapy which usually contains both TDF and EFV, photoprotection from broad-band ultraviolet wavelengths should be emphasized for the patients receiving this antiretroviral regimen.

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Drug-induced hyperpigmentation is an adverse cutaneous effect; it has been associated with several systemic medications. A healthy 40-year-old man developed facial and dorsal hand hyperpigmentation within two weeks of beginning doxycycline monohydrate 100 milligrams twice daily for acne. Skin pigmentation significantly diminished at a follow-up evaluation two months after discontinuing the medication. Doxycycline-associated skin hyperpigmentation, albeit uncommon, has been described in 18 patients in the literature, including our patient. The demographics included 13 males and five females ranging in age from 11 to 87 years; eight of the patients were less than 50 years old and ten of the patients were over 60 years old. Doxycycline-associated hyperpigmentation frequently occurs on the face and can occur at the site of a previous scar. In most cases, doxycycline was discontinued with the resolution of hyperpigmentation.

BACKGROUND: Photophobia is a common sensory symptom after traumatic brain injury (TBI) that may have a grave impact on a patient\'s functional independence, neurorehabilitation, and activities of daily living. Post-TBI photophobia can be difficult to treat and the majority of patients can suffer chronically up to and beyond one year after their injury.
OBJECTIVE: This review evaluates the current theories of the pathophysiology of photophobia and the most-common co-morbid etiologies of light sensitivity in TBI to help guide the differential diagnosis and individualized management of post-TBI photophobia.
METHODS: Primary articles were found via PubMed and Google Scholar search of key terms including \"photophobia\" \"light sensitivity\" \"photosensitivity\" \"photo-oculodynia\" \"intrinsically photosensitive retinal ganglion cells\" \"ipRGC\" and \"concussion\" \"brain injury\" \"dry eye\". Due to paucity of literature papers were reviewed from 1900 to present in English.
RESULTS: Recent advances in understanding the pathophysiology of photophobia in dry eye and migraine and their connection to intrinsically photosensitive retinal ganglion cells (ipRGC) have revealed complex and multifaceted trigeminovascular and trigeminoautonomic pathways underlying photophobia. Patients who suffer a TBI often have co-morbidities like dry eye and migraine that may influence the patient\'s photophobia.
CONCLUSIONS: Post-traumatic photophobia is a complex multi-disciplinary complaint that can severely impact a patient\'s quality of life. Exploration of underlying etiology may allow for improved treatment and symptomatic relief for these patients beyond tinted lenses alone.