Interrelación entre Anatomía Patológica y Dermatología ilustrada mediante un caso clínico de sarcoma de Kaposi / Illustrating the relationship between Pathological Anatomy and Dermatology by means of a clinical case of Kaposi's Sarcoma

Se presenta el caso clínico de un paciente asistido en el servicio de Dermatología por tener lesión tumoral gigante en calcáneo derecho de instauración progresiva. La biopsia incisional muestra sarcoma de Kaposi endémico sin afectación visceral. El estadio tan avanzado de la enfermedad propició la evolución tórpida del paciente. El estudio histopatológico estableció el diagnóstico certero de la lesión tumoral; la biopsia fue el método auxiliar que estableció el vínculo necesario entre el examen macroscópico y microscópico de la piel, y la interrelación básico-clínica entre dos disciplinas: Anatomía Patológica y Dermatología.

We present a clinical case of a patient seen in the Dermatology service due to a progressive giant cell tumour in the right calcaneus. Incisional biopsy shows endemic Kaposi's sarcoma without visceral involvement. The advanced stage of the disease led to the torpid evolution of the patient. The histopathological study established the accurate diagnosis of the tumour lesion, the biopsy was the auxiliary method that established the necessary link between the macroscopic and microscopic examination of the skin and the basic and clinical relationship between two disciplines: Pathological Anatomy and Dermatology.

The Chinese herbal prescription JieZe-1 inhibits caspase-1-dependent pyroptosis induced by herpes simplex virus-2 infection in vitro / 中西医结合学报

OBJECTIVE@#JieZe-1 (JZ-1), a Chinese herbal prescription, has an obvious effect on genital herpes, which is mainly caused by herpes simplex virus type 2 (HSV-2). Our study aimed to address whether HSV-2 induces pyroptosis of VK2/E6E7 cells and to investigate the anti-HSV-2 activity of JZ-1 and the effect of JZ-1 on caspase-1-dependent pyroptosis.@*METHODS@#HSV-2-infected VK2/E6E7 cells and culture supernate were harvested at different time points after the infection. Cells were co-treated with HSV-2 and penciclovir (0.078125 mg/mL) or caspase-1 inhibitor VX-765 (24 h pretreatment with 100 μmol/L) or JZ-1 (0.078125-50 mg/mL). Cell counting kit-8 assay and viral load analysis were used to evaluate the antiviral activity of JZ-1. Inflammasome activation and pyroptosis of VK2/E6E7 cells were analyzed using microscopy, Hoechst 33342/propidium iodide staining, lactate dehydrogenase release assay, gene and protein expression, co-immunoprecipitation, immunofluorescence, and enzyme-linked immunosorbent assay.@*RESULTS@#HSV-2 induced pyroptosis of VK2/E6E7 cells, with the most significant increase observed 24 h after the infection. JZ-1 effectively inhibited HSV-2 (the 50% inhibitory concentration = 1.709 mg/mL), with the 6.25 mg/mL dose showing the highest efficacy (95.76%). JZ-1 (6.25 mg/mL) suppressed pyroptosis of VK2/E6E7 cells. It downregulated the inflammasome activation and pyroptosis via inhibiting the expression of nucleotide-binding oligomerization domain-like receptor family pyrin domain-containing protein 3 (P < 0.001) and interferon-γ-inducible protein 16 (P < 0.001), and their interactions with apoptosis-associated speck-like protein containing a caspase recruitment domain, and reducing cleaved caspase-1 p20 (P < 0.01), gasdermin D-N (P < 0.01), interleukin (IL)-1β (P < 0.001), and IL-18 levels (P < 0.001).@*CONCLUSION@#JZ-1 exerts an excellent anti-HSV-2 effect in VK2/E6E7 cells, and it inhibits caspase-1-dependent pyroptosis induced by HSV-2 infection. These data enrich our understanding of the pathologic basis of HSV-2 infection and provide experimental evidence for the anti-HSV-2 activity of JZ-1. Please cite this article as: Liu T, Shao QQ, Wang WJ, Liu TL, Jin XM, Xu LJ, Huang GY, Chen Z. The Chinese herbal prescription JieZe-1 inhibits caspase-1-dependent pyroptosis induced by herpes simplex virus-2 infection in vitro. J Integr Med. 2023; 21(3): 277-288.

Cytopathological diagnosis of herpes simplex virus infection causing oral aphthous ulcers in a patient with acute lymphocytic leukemia: case report / Diagnóstico citopatológico de infecção pelo vírus herpes simples causando úlceras aftosas orais em paciente com leucemia linfocítica aguda: relato de caso

Aim:This paper aims to report an atypical oral HSV infection diagnosed by cytopathological examination in a patient with acute lymphocytic leukemia. Case report: A nine-year-old white female was admitted with acute lymphocytic leukemia, presenting ulcers covered with pseudomembrane and spontaneous bleeding on the left soft palate, measuring approximately 2 cm, as well as other ulcers measuring 1 cm on the left lateral border of the tongue. Exfoliative cytopathology revealed neutrophils and cytopathic effects of HSV in the keratinocytes in a fibrin background. Based on the exfoliative examination, the diagnosis of HSV infection was obtained. Conclusion: Oral HSV infection can be atypical in immunocompromised patients and can cause high morbidity and mortality. Healthcare professionals, especially those working in a hospital environment, should be aware of the possibility of HSV infection in atypical lesions in these patients and evaluate the need to include antiviral prophylactic therapy.

Objetivo:Este trabalho tem como objetivo relatar uma infecção oral atípica por HSV diagnosticada por exame citopatológico em um paciente com leucemia linfocítica aguda. Relato de caso:Paciente do sexo feminino, nove anos, branca, portadora de leucemia linfocítica aguda, apresentando úlceras recobertas por pseudomembrana e sangramento espontâneo em palato mole esquerdo medindo aproximadamente 2 cm, além de outras úlceras medindo 1 cm na borda lateral esquerda da língua. A citopatologia esfoliativa revelou neutrófilos e efeitos citopáticos do HSV nos ceratinócitos em um fundo de fibrina. Com base no exame esfoliativo, foi obtido o diagnóstico de infecção por HSV. Conclusão: A infecção oral por HSV pode ser atípica em pacientes imunocomprometidos e pode causar alta morbidade e mortalidade. Os profissionais de saúde, principalmente os que atuam em ambiente hospitalar, devem estar atentos à possibilidade de infecção pelo HSV em lesões atípicas nesses pacientes e avaliar a necessidade de inclusão de terapia antiviral profilática.

Development and evaluation of topical formulations that contain hydroethanolic extract from Schinus terebinthifolia against HSV-1 infection

Abstract The therapeutic drugs to treat Herpes simplex virus (HSV) infections have toxic side effects and there has been an emergence of drug-resistant strains. Therefore, the search for new treatments for HSV infections is mounting. In the present study, semi-solid formulations containing a crude hydroethanolic extract (CHE) from Schinus terebinthifolia were developed. Skin irritation, cutaneous permeation, and in vivo therapeutic efficacy of the formulations were investigated. Treatment with the ointment formulations did not result in any signs of skin irritation while the emulsions increased the thickness of the epidermis in Swiss mice. The cutaneous permeation test indicated that the CHE incorporated in the formulations permeated through the skin layers and was present in the epidermis and dermis even 3 h after topical application. In vivo antiviral activity in BALB/c mice treated with the CHE ointments was better than those treated with the CHE emulsions and did not significantly differ from an acyclovir-treated group. Taken together, this suggests that the incorporation of CHE in the ointment may be a potential candidate for the alternative topical treatment of herpetic lesions.

Gingivoestomatitis herpética severa en paciente con cardiopatía congénita; reporte de caso clínico / Gengivoestomatite herpética grave em paciente com cardiopatia congênita; relato de caso clínico / Severe herpetic gingivostomatitis in a patient with congenital heart disease; clinical case report

La gingivoestomatitis herpética corres-ponde a la manifestación primaria de la infección por virus herpes simple tipo I que se presenta con mayor frecuencia en lactantes mayores y preescolares. Objeti-vo: describir abordaje y manejo de gingi-vo estomatitis herpética en una paciente con cardiopatía congénita y cuadro de desnutrición severa. El caso se refiere a paciente femenina de 16 meses de edad a quien le fue realizado anamnesis, exa-men clínicoe interconsultas con servicios de pediatría, patología, medicina bucal, infectología. El diagnóstico incluyó co-municación intraventricular, desnutrición severa y gingivoestomatitis herpética. Se realizó tratamiento paliativo para el dolor, terapia antiviral (aciclovir en suspensión 1cc cada 6 horas por 7 días) y tratamiento tópico (sucralfato en suspensión 1g/5ml mezclado en partes iguales con cetirizina en suspensión. 5 mg / 5 ml, 3 veces al día directamente sobre las lesiones) durante 14 días logrando reducción de la sintoma-tologia. Conclusiones: el correcto manejo multidisciplinario permitió lograr dismi-nución en tamaño y número de las lesio-nes en cavidad oral, orientación dietética y canalización apropiada.

A gengivoestomatite herpética correspon-de à manifestação primária da infecção pelo vírus herpes simplex tipo I, que ocorre com mais frequência em bebês e em idade pré-escolar. Objetivo: descrever a aborda-gem e o tratamento da estomatite herpética gengival em um paciente com cardiopatia congênita e desnutrição grave. O caso re-fere-se a uma paciente de 16 meses de ida-de, submetida a anamnese, exame clínico e interconsultas com serviços de pediatria, patologia, medicina bucal, infectologia. O diagnóstico incluiu comunicação intraven-tricular, desnutrição grave e gengivosto-matite herpética. Foram realizados trata-mento paliativo para dor, terapia antiviral (suspensão de aciclovir 1cc a cada 6 horas por 7 dias) e tratamento tópico (suspensão de sucralfato 1g / 5ml misturado em partes iguais com suspensão de cetirizina 5mg / 5ml, 3 vezes ao dia diretamente. lesões) por 14 dias, alcançando redução dos sintomas. Conclusões: o correto manejo multidisci-plinar permitiu diminuir o tamanho e o número de lesões na cavidade oral, orien-tação alimentar e canalização adequada.

Herpetic gingivostomatitis is the pri-mary manifestation of herpes simplex virus type I infection, common in older infants and preschoolers. Objective: to describe the approach and management of herpetic stomatitis in a patient with congenital heart disease and severe mal-nutrition. The case refers to a 16-mon-th-old female patient who underwent an anamnesis, clinical examination, and inter-consultations with pediatric, pa-thological, oral medicine services, and Diagnosis included intraventricular communication, severe malnutrition, and herpetic gingivostomatitis. Palliati-ve treatment for pain, antiviral therapy (acyclovir suspension 1cc every 6 hours for 7 days) and topical treatment (sucral-fate suspension 1g / 5ml mixed in equal parts with cetirizine suspension 5mg / 5ml, 3 times a day directly, were perfor-med. about injuries) for 14 days. Conclu-sions: multidisciplinary, management, allowed to obtain, clinical diagnosis and establish a treatment plan with positive outcome,decreasing oral cavity dietary guidance and appropriate channeling.

Cerebrospinal fluid challenges for the diagnosis of herpes simplex infection in the central nervous system / Desafios do exame do líquido cefalorraquidiano para o diagnóstico de infecção por herpes simplex no sistema nervoso central

Abstract Herpes simplex virus (HSV) is a cause of a severe disease of the central nervous system (CNS) in humans. The demonstration of specific antibodies in the cerebrospinal fluid (CSF) may contribute to the retrospective neurological diagnosis. However, the commercial immunological tests for HSV infection are for use in serum samples. Objective: The aim of the present study was to adapt a commercial kit anti-HSV IgG used for serum samples to be performed with a CSF sample. Methods: Forty CSF specimens from 38 patients with suspected CNS HSV infection were serially diluted for detecting anti-HSV IgG by enzyme immunoassay (EIA). The same samples were also analyzed with the polymerase chain reaction (PCR). Results: The sensitivity of EIA test for HSV was 5% (dilution 1:40) and 65% (dilution 1:2) in CSF, and HSV DNA PCR was 15%. The combined analysis of EIA (dilution 1:2) and PCR increased the sensitivity up to 72.5%. The inflammatory CSF was associated with positive HSV PCR. Conclusions: We demonstrated the importance to adapt serological anti-HSV IgG EIA test for CSF assays to increase the accuracy of the analysis, considering the low concentration of specific antibodies in CSF.

Resumo O vírus herpes simples (HSV) é um dos agentes causadores de uma doença grave no sistema nervoso central (SNC) em humanos. A detecção de anticorpos específicos no líquido cefalorraquidiano (LCR) pode contribuir para o diagnóstico neurológico retrospectivo. Entretanto, os testes imunológicos comerciais são para uso em amostras de soro. Objetivo: Adaptar um kit comercial sorológico anti-HSV IgG para ser utilizado no de LCR. Metodos: Quarenta amostras de LCR de 38 pacientes com suspeita de infecção por HSV no SNC foram diluídas pesquisa de anticorpos anti-HSV IgG pelo método imunoenzimático (EIA). Além disso, as mesmas amostras também foram analisadas por reação em cadeia da polimerase (PCR). Resultados: A sensibilidade do teste EIA para o HSV consistiu em 5% (diluição 1:40) e 65% (diluição 1:2) no LCR, e o PCR do DNA do HSV, 15%. A análise combinada de EIA (diluição 1:2) e PCR aumentou a sensibilidade para 72,5%. Houve associação entre presença do LCR inflamatório e PCR positiva para HSV. Conclusões: Demonstramos a importância na adaptação previa do teste sorológico anti-HSV IgG EIA para ensaios do no LCR, a fim de aumentar a acuracia da análise, considerando a baixa concentração de anticorpos específicos no LCR.

Usefulness of aqueous and vitreous humor analysis in infectious uveitis

OBJECTIVE: To evaluate the role of intraocular fluid analysis as a diagnostic aid for uveitis. METHODS: Twenty-eight samples (27 patients including 3 HIV-infected patients) with active (n=24) or non-active (n=4) uveitis were submitted to aqueous (AH; n=12) or vitreous humor (VH) analysis (n=16). All samples were analyzed by quantitative PCR for herpes simplex virus (HSV), varicella zoster virus (VZV), cytomegalovirus (CMV), Epstein-Barr virus (EBV) and Toxoplasma gondii. RESULTS: The positivity of the PCR in AH was 41.7% (5/12), with 50% (2/4) in immunocompetent and 67% (2/3) in HIV+ patients. The positivity of the PCR in VH was 31.2% (5/16), with 13% (1/8) in immunocompetent and 50% (4/8) in immunosuppressed HIV negative patients. The analysis was a determinant in the diagnostic definition in 58% of HA and 50% of VH. CONCLUSION: Even in posterior uveitis, initial AH analysis may be helpful. A careful formulation of possible clinical diagnosis seems to increase the chance of intraocular sample analysis being meaningful.

Síntesis intratecal de IgG anti-herpes virus como evidencia neuroinmunológica en pacientes pediátricos / Intrathecal synthesis of IgG against herpes virus as neuroimmunological evidence in pediatric patients

En los procesos neuroinflamatorios se produce a nivel de líquido cefalorraquídeo una activación policlonal y poliespecífica. Esta activación se produce desde los primeros días y puede permanecer por períodos prolongados. Luego por mecanismos de apoptosis los clones que no responden directamente contra los agentes biológicos involucrados no proliferan. El Reibergrama permite saber si las inmunoglobulinas presentes en el líquido cefalorraquídeo se sintetizaron o no en el sistema nervioso central (SNC) y el Índice de Anticuerpo (IA) determina la especificidad de las mismas en caso de que exista síntesis intratecal. Con estas herramientas nos propusimos identificar la respuesta neuroinmunológica frente a agentes de la familia herpesvirus en pacientes pediátricos con proceso inflamatorio del SNC a partir de sus respectivos IA. Para lograr esto se cuantificaron los niveles de IgG y albúmina en suero y líquido cefalorraquídeo (LCR) mediante inmunodifusión radial simple y por ensayo inmunoenzimático, con lo cual se construyó el Reibergrama que permitió la selección de 85 pacientes pediátricos con síntesis intratecal de inmunoglobulinas, que se diferenciaron en cuatro grupos según sus edades. Mediante ensayo inmunoenzimático se cuantificaron los niveles de IgG específica contra citomegalovirus, virus varicela zoster y virus herpes simple, tanto en suero como en LCR y se determinó el IA específico. La respuesta contra los virus estudiados fue similar para los distintos grupos de edades, lo cual nos permite afirmar la exposición temprana a los mismos(AU)

In a neuroinflammatory process a polyclonal and poly-specific activation is produced in cerebrospinal fluid. This activation starts from the first days and may persist for a long time. The clones not related directly against the biological agent do not proliferate by apoptosis. Reibergram determine if part of the immunoglobulins content in cerebrospinal fluid belongs from the blood or it is synthesized in the central nervous system. Antibody index determines if the specific antibodies was synthesized intrathecally. By these tools it can be possible to identify the humoral immune response against some herpes virus in pediatric patients suffering from a central nervous system inflammatory process. Quantification of specific IgG against citomegalovirus, varicella zoster and herpes simplex virus in serum and cerebrospinal fluid was done by ELISA. Specific Antibody index against these viruses were similar for the different age groups, which confirm the early exposure of the population(AU)

Recurrent Kaposi Varicelliform Eruption: Investigation of Clinical Characteristics and Predisposing Factors / 대한피부과학회지

BACKGROUND: Kaposi varicelliform eruption (KVE) is a disseminated viral infection primarily caused by the herpes simplex virus in the setting of an underlying chronic skin disease. Few studies have reported the clinical characteristics and predisposing factors for recurrent KVE.OBJECTIVES: To characterize the clinical features and predisposing factors for recurrent KVE.METHODS: This retrospective comparative study of recurrent vs. single-episode KVE was performed at the Pusan National University Hospital between 2004 and 2017.RESULTS: A total of 84 episodes occurred in 60 patients, and of these, 13 patients developed recurrence (21.7%). No statistically significant intergroup difference was observed in the mean age and sex distribution. The face was the most common site of involvement in both groups, followed by the trunk and the upper and lower extremities. Atopic dermatitis was the most common pre-existing disease in both groups; however, Darier's disease was more common in the recurrent KVE group, and this difference was statistically significant. Most patients with KVE (66.7%) showed aggravation of the underlying skin disease within 3 months of KVE onset. This finding was more prominent in patients with recurrent episodes (91.7%) than in those with single-episode KVE (58.3%), (p=0.040).CONCLUSION: This study can contribute to a better understanding of recurrent KVE and guide clinicians in treating patients with conditions predisposing to KVE.

A Case of Eosinophilic Esophagitis Associated with Herpes Esophagitis in a Pediatric Patient

Eosinophilic esophagitis is a rare disease in Asian countries, but its incidence is growing rapidly in Western countries. The main pathophysiology of eosinophilic esophagitis is esophageal epithelial barrier dysfunction; disruption of the esophageal epithelial barrier easily induces antigen sensitization to foods and aeroallergens, which leads to subsequent esophageal inflammation as a result of eosinophil recruitment. Here we report a case of an 11-year-old Korean boy who suffered from fever, odynophagia, dysphagia, and chest pain. His upper endoscopic findings showed longitudinal ulcers with a volcano-like appearance at the distal esophagus. Polymerase chain reaction test results and biopsy specimens were positive for herpes simplex virus type 1. He was treated with acyclovir and a proton pump inhibitor, but his follow-up endoscopy showed typical patterns of eosinophilic esophagitis, and the biopsy specimens were compatible with the diagnostic criteria for eosinophilic esophagitis. Therefore, we report a very rare case of eosinophilic esophagitis after herpes esophagitis in a Korean child with normal immunity.

Chest Pain in a Renal Transplant Recipient due to Concomitant Cytomegalovirus and Herpes Simplex Virus Esophagitis

Chest pain in kidney transplant patients is usually caused by cardiac or pulmonary problems. However, it may be rarely caused by opportunistic esophageal infections. A 66-year-old female kidney transplant recipient was admitted because of chest pain. She had been treated with high-dose steroid and immunosuppressants for acute T-cell-mediated rejection. Cardiologic and pulmonary evaluations had normal results. Endoscopic examination revealed three clear ulcerative lesions in the esophagus. Histological and immunohistochemical staining of the endoscopic biopsy specimens revealed coinfection of herpes simplex virus and cytomegalovirus. The patient was treated with intravenous ganciclovir for 2 weeks. Her symptoms completely resolved, and follow-up endoscopy revealed complete healing of the previous ulcers. Viral esophagitis should be considered in the differential diagnosis in kidney transplant recipients presenting with chest pain.

Acute Necrotizing Encephalopathy in Children: a Long Way to Go

BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare, but potentially life threatening neurological condition in children. This study aimed to investigate its clinical spectrum, diagnostic and therapeutic dilemma, and prognosis. METHODS: Twelve children with ANE were included in the study. The diagnosis was made by clinical and radiological characteristics from January 1999 to December 2017 and their clinical data were retrospectively analyzed. RESULTS: A total of 12 children aged 6 to 93 months at onset (5 male: 7 female) were evaluated. The etiology was found in 4 of them (influenza A, H1N1; coxsackie A 16; herpes simplex virus; and RANBP2 gene/mycoplasma). The most common initial presentations were seizures (67%) and altered mental status (58%). The majority of the subjects showed elevation of aspartate aminotransferase/alanine aminotransferase with normal ammonia and increased cerebrospinal fluid protein without pleocytosis. Magnetic resonance imaging revealed increased T2 signal density in bilateral thalami in all patients, but the majority of the subjects (67%) also had lesions in other areas including tegmentum and white matter. Despite the aggressive immunomodulatory treatments, the long-term outcome was variable. One child and two sisters with genetic predisposition passed away. CONCLUSION: ANE is a distinctive type of acute encephalopathy with diverse clinical spectrum. Even though the diagnostic criteria are available, they might not be watertight. In addition, treatment options are still limited. Further studies for better outcome are needed.

Congenital cytomegalic inclusion disease with disseminated Herpes simplex infection

@#We report a case of congenital cytomegalovirus and Herpes simplex virus infection suspected via ultrasound indicated by the presence of fetal cerebral abnormalities. The pregnancy was electively terminated at 31 weeks of gestation. The postmortem examination of the foetus showed brain with lissencephaly. The histopathological examination revealed numerous enlarged cells containing cytomegalic inclusions and multinucleated giant cells in multiple fetal organs and placenta. Documented evidence of histopathological detection of cytomegalovirus inclusions in multiple organs are very sparse in literature. This case highlights the causal relationship of viral infections in early pregnancy and abnormalities of the central nervous system.

A Case of Chronic Herpes Simplex Virus Infection Misdiagnosed as a Perforating Dermatosis / 대한피부과학회지

No abstract available.

Successful Treatment of Neonatal Herpes Simplex Infection Presenting as Fulminant Hepatitis with Acyclovir and Peritoneal Dialysis

Disseminated neonatal herpes simplex virus (HSV) infection is a severe disease with a high mortality rate. Here, we report the patient presented with fulminant hepatic failure secondary to HSV infection followed by renal failure without any mucocutaneous symptoms. The patient recovered after treatment with acyclovir and peritoneal dialysis. This is the first known case of a patient in Korea who survived disseminated HSV infection with fulminant liver failure followed by renal failure without undergoing liver transplantation.

A Case of Neonatal Meningitis Caused by Streptococcus dysgalactiae subspecies dysgalactiae and Herpes Simplex Virus

Streptococcus dysgalactiae has two main subspecies: S. dysgalactiae subsp. equisimilis (SDSE) and S. dysgalactiae subsp. dysgalactiae (SDSD). SDSE often colonizes and causes infections in humans; however, SDSD is an animal pathogen which often causes pyogenic infection in domestic animals. We present a case of meningitis with SDSD and herpes simplex virus in a 22-day-old newborn baby who had no exposure to animals.

A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum

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.