Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by sensitivity to sunlight and predisposition to cutaneous malignancies. There are various types, including the Variant type, which does not manifest with acute sunburn reactions. This results to the development of multiple malignancies that are often discovered at late stages, making management more challenging. This is a case of a 54-year-old Filipino female presenting with multiple basal cell carcinomas (BCCs) on several areas of the face and advanced cutaneous squamous cell carcinoma (cSCC) on the right zygomatic area, treated with imiquimod 5% cream and external beam radiation therapy, respectively. There was an excellent response of the BCCs to imiquimod 5% cream and good tumoral response of the SCC to radiation therapy, with tolerable side effects, highlighting the use of these palliative treatment modalities for XP patients with multiple, unresectable, or difficult-to-treat cutaneous malignancies.

Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Results A total of 186 cases were enrolled,including 110 males and 76 females,with the mean age of(28±16)years. The data of gene mutation and specific clinical manifestations were available in 151 and 94 patients,respectively. The main clinical manifestations of KS included poikiloderma,occurrence of blister in childhood,and photosensitivity,and the secondary clinical manifestations included oral inflammation,palmoplantar keratoderma,webbing/pseudoainhum,dysphagia,urethral stricture and so on.Oral inflammation(r=0.234,P=0.023),palmoplantar keratoderma(r=0.325,P=0.001),webbing/pseudoainhum(r=0.247,P=0.016),dysphagia(r=0.333,P=0.001),urethral stricture(r=0.280,P=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(χ²=11.292,P=0.001)and anal stenosis(χ²=4.014,P=0.045)were significantly correlated with sex,with higher incidence in males.Eighty different mutations were found in 151 patients,and the most common gene mutation was c.676C>T.Forty-one tumors occurred in 27 patients,among which squamous cell carcinoma accounted for 92.7%. The gene mutation site had no significant correlation with squamous cell carcinoma or patient country. Conclusions The c.676C>T in FERMT1 gene is the most common mutation in KS.The patients are prone to squamous cell carcinoma and mainly attacked at the exposure sites(hand and mouth).
Adolescent ; Adult ; Ainhum ; Blister ; Carcinoma, Squamous Cell ; Child ; Constriction, Pathologic ; Deglutition Disorders/complications* ; Epidermolysis Bullosa ; Female ; Humans ; Inflammation ; Keratoderma, Palmoplantar/complications* ; Male ; Membrane Proteins ; Mutation ; Neoplasm Proteins/genetics* ; Periodontal Diseases ; Photosensitivity Disorders ; Urethral Stricture/complications* ; Young Adult

Light sheet microscopy (LSM) is an evolving optical imaging technique with a plane illumination for optical sectioning and volumetric imaging spanning cell biology, embryology, and in vivo live imaging. Here, we focus on emerging biomedical applications of LSM for tissue samples. Decoupling of the light sheet illumination from detection enables high-speed and large field-of-view imaging with minimal photobleaching and phototoxicity. These unique characteristics of the LSM technique can be easily adapted and potentially replace conventional histopathological procedures. In this review, we cover LSM technology from its inception to its most advanced technology; in particular, we highlight the human histopathological imaging applications to demonstrate LSM's rapid diagnostic ability in comparison with conventional histopathological procedures. We anticipate that the LSM technique can become a useful three-dimensional imaging tool for assessing human biopsies in the near future.
Biopsy ; Dermatitis, Phototoxic ; Embryology ; Humans ; Imaging, Three-Dimensional ; Lighting ; Microscopy ; Optical Imaging ; Photobleaching

PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient's visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. CONCLUSIONS: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity.
Adult ; Carcinoma, Basosquamous ; Cornea ; Corneal Opacity ; Debridement ; Diagnosis ; Exome ; Eyelids ; Female ; Follow-Up Studies ; Humans ; Ichthyosis ; Korea ; Limbus Corneae ; Melanoma ; Neurofibroma ; Ophthalmic Solutions ; Polymerase Chain Reaction ; Simplexvirus ; Skin ; Visual Acuity ; Xeroderma Pigmentosum

Introduction: Photocontact dermatitis is a type IV delayed hypersensitivity response to an allergen that is activated by radiation energy. Its incidence is uncertain and only a small number of drugs causing such reaction have been studied. This is a case of a 67-year-old filipino male, diabetic, who presented with scaly, erythematous, and hyperpigmented plaques with areas of desquamation and erosions on sunexposed areas of the skin after taking metformin. Case: Four months prior to consult, the patient was diagnosed with type 2 diabetes mellitus and was started on metformin therapy. Days later, he started noticing scaly, erythematous and hyperpigmented plaques with areas of desquamation and erosions on sun-exposed areas, namely the upper and lower extremities, posterior neck, and forehead. There was notable sparing of areas that are usually covered with clothing such as the torso, inguina and both thighs. There were also no lesions on the scalp, palmar aspect of the hands and plantar surface of the feet. Skin biopsy was considered but was not done per patient’s preference. After discontinuation of metformin and avoidance from sun exposure, the skin lesions gradually improved. Conclusion Metformin is rarely associated with adverse skin reactions. The diagnosis of photocontact dermatitis as a side effect of metformin needs to be considered as a differential diagnosis in patients who present with skin rashes, especially in sun-exposed areas. It is recommended that there should be a high-index of suspicion for adverse drug reactions in such patients. This would reduce medical errors and medical cost and would result to prompt initiation of appropriate treatment.
Metformin ; Dermatitis, Photoallergic ; Diabetes Mellitus, Type 2

BACKGROUND: To prevent occupational skin cancer, it is essential that the sun-protective behavior of outdoor workers is adequate. The aim is to study the sun-protective behavior of Danish outdoor workers at work, at leisure, and on sun holiday and compare it to that of indoor workers. METHODS: This is a cross-sectional study, based on a 53-item survey completed by Danish outdoor (n = 380) and indoor workers (n = 119) in 2016-2017. Status as outdoor or indoor worker was decided based on self-report and behavioral differences were tested using (paired) t tests and multiple regression adjusted for age, sex, educational level, history of smoking, and skin type. RESULTS: Danish outdoor workers at work use sun protection less than they do at leisure and on sun holiday (α < .05) where their sun protection behavior is similar to that of indoor workers. The proportion of Danish outdoor workers that always/often use sun protection at work is for shade seeking around noon 4.2%, sunscreen 34.5%, wide-brimmed hat 25.3%, and long trousers and shirt with sleeves 42.4%. Of Danish outdoor workers, 49.5% do not think about the risk of occupational skin cancer and 11.8% think the risk is insignificant, 32.4% think that the use of sun protection is of low or no importance, 84.2% consider sunburn important as skin cancer risk factor still 88.9% have a history of sunburn at work, > 80.0% agree that risk of skin cancer is reduced by the use of sun protection, and only 4.0% dismiss the possibility of sun protection use at work. CONCLUSIONS Skin cancer risk and use of sun protection at work are largely neglected in Danish outdoor workers, more so than at leisure and on sun holiday where their risk behavior resembles that of indoor workers. This indicates an untapped workplace preventive potential.
Cross-Sectional Studies ; Denmark ; Female ; Health Knowledge, Attitudes, Practice ; Humans ; Male ; Middle Aged ; Occupational Diseases ; prevention & control ; Occupational Exposure ; prevention & control ; statistics & numerical data ; Occupational Health ; statistics & numerical data ; Risk Reduction Behavior ; Skin Neoplasms ; prevention & control ; Sunburn ; prevention & control ; Surveys and Questionnaires ; Workplace ; classification ; psychology ; statistics & numerical data

Zinc oxide nanoparticles (ZnO NPs) and titanium dioxide nanoparticles (TiO2 NPs) are well known as photoreactive nanoparticles (NPs). Various phototoxicities of ZnO NPs and TiO₂ NPs were reported on several organisms. It was still necessary to evaluate the toxicity of photoreactive ZnO NPs and TiO₂ NPs due to species-specific effects under various irradiation conditions. We compared the acute toxicity of Moina macrocopa under visible, ultraviolet (UV) A, and B irradiations, according to the Organization for Economic Cooperation and Development guidelines for the testing of chemicals (Test No. 202). The sensitivity of ZnO NPs for M. macrocopa was UVB>UVA>visible light irradiation. There were no significant lethal and immobile effects of TiO₂ NPs on juveniles under all irradiations and in the tested concentrations of TiO₂ NPs. Photoreactive NPs have a potential and accelerated toxicity on organisms in the ambient environments.
Dermatitis, Phototoxic ; Nanoparticles* ; Organisation for Economic Co-Operation and Development ; Titanium ; Zinc Oxide

Unlike typical hydroa vacciniforme (HV), Epstein-Barr virus (EBV)-associated HV-like eruption is more variable in its clinical manifestations. In some patients, progression to lymphoma or leukemia has been reported, which are characterized by the T-cell immunophenotype. Here, we report the first Korean case of EBV-associated vesiculopapular eruption on the face of a patient with natural killer (NK)/T cell lymphoma. A 32-year-old Korean man presented with a late adolescent-onset recurrent necrotic papulovesicles on his face. The patient was previously diagnosed with EBV-associated NK/T cell lymphoma of the oral cavity and also had childhood-onset hypersensitivity to mosquito bites. Biopsy of his facial skin showed EBV-associated vesiculopapular eruptions, though ultraviolet provocation did not reproduce the skin lesions. EBV viral load in his peripheral blood was detected but low. The patient was treated with systemic chemotherapy. The lymphoma went into remission, but the facial EBV-associated vesiculopapular eruption had a relapsing and remitting course.
Adult ; Biopsy ; Culicidae ; Drug Therapy ; Herpesvirus 4, Human ; Humans ; Hydroa Vacciniforme ; Hypersensitivity ; Leukemia ; Lymphoma* ; Mouth ; Natural Killer T-Cells* ; Skin ; T-Lymphocytes ; Viral Load

Eccrine squamous syringometaplasia (ESS) is a histologically distinctive skin eruption occurring predominantly in acral or intertriginous areas presenting as erythematous macules, papules or patches. The etiology of ESS remains unclear, but it is usually reported in patients receiving chemotherapy for various malignant neoplasms. To date, only two cases of ESS associated with non-steroidal anti-inflammatory drugs (NSAIDs), which has distinctive clinical features and pathogenesis, have been reported in the literature. Herein, we report a rare and interesting case of ESS associated with pelubiprofen, a recently developed NSAID, which appeared after pelubiprofen therapy and resolved spontaneously after discontinuing the medication.
Dermatitis, Phototoxic ; Drug Therapy ; Humans ; Metaplasia ; Skin

Phytophotodermatitis is a condition caused by sequential exposure to photosensitizing substances present in plants followed by ultraviolet light. Several plants (e.g., limes, celery, fig, and wild parsnip) contain furocoumarin compounds (psoralens). It is important for dermatologists to be aware of phytophotodermatitis because it may be misdiagnosed as cellulitis, tinea, or allergic contact dermatitis. We present five patients with a sharply defined erythematous swollen patch with bullae on both feet. They described soaking their feet in a fig leaves decoction to treat their underlying dermatologic diseases. Within 24 hours, all patients had a burning sensation in their feet, and erythema and edema had developed on the feet dorsa with exception of the portion of the skin covered by the sandals. Histopathologic examinations revealed sub-epithelial blisters with intensive epidermal necrosis. Phytophotodermatitis was ultimately diagnosed and, after several days, the patients' skin lesions began to recover upon treatment with systemic and topical corticosteroids. Unfortunately, since there are no studies providing sufficient evidence on the benefits of fig leaves, they should be used with caution.
Adrenal Cortex Hormones ; Apium graveolens ; Blister ; Burns ; Cellulitis ; Citrus aurantiifolia ; Dermatitis, Allergic Contact ; Edema ; Erythema ; Ficus ; Foot ; Humans ; Necrosis ; Photosensitivity Disorders ; Sensation ; Skin ; Tinea ; Ultraviolet Rays