Epidermolytic acanthoma:A case report

BACKGROUND Epidermolytic acanthoma(EA)is a rare benign skin lesion,usually found in the genital area of men and women,with epidermolytic hyperkeratosis as its distinguishing histologic characteristic.It is commonly misdiagnosed as condyloma accuminatum,verruca,and seborrheic keratosis.Since this lesion is benign,treatment is not necessary.However,it is often misdiagnosed,and patients are likely to undergo incorrect counseling and unnecessary treatment,causing undue burden to the patient.This study seeks to increase awareness of this rare condition to prevent future misdiagnoses.CASE SUMMARY A 55-year-old man living with human immunodeficiency virus presented for anal cancer screening.His physical examination revealed a flesh colored papule at the anal margin.The initial differential diagnosis included molluscum contagiosum,anal condyloma,and basal cell carcinoma.The lesion was excised to obtain a definitive diagnosis and was discovered to be EA.CONCLUSION EA is often misdiagnosed due to its similarity to other dermatologic conditions.Careful examination and pathologic evaluation should be obtained to ensure proper diagnosis.

Staphylococcus aureus bacteremia and infective endocarditis in a patient with epidermolytic hyperkeratosis:A case report

BACKGROUND Staphylococcus aureus bacteraemia(SAB)is among the leading causes of bacteraemia and infectious endocarditis.The frequency of infectious endocarditis(IE)among SAB patients ranges from 5%to 10%-12%.In adults,the characteristics of epidermolytic hyperkeratosis(EHK)include hyperkeratosis,erosions,and blisters.Patients with inflammatory skin diseases and some diseases involving the epidermis tend to exhibit a disturbed skin barrier and tend to have poor cellmediated immunity.CASE SUMMARY We describe a case of SAB and infective endocarditis in a 43-year-old male who presented with fever of unknown origin and skin diseases.After genetic tests,the skin disease was diagnosed as EHK.CONCLUSION A breached skin barrier secondary to EHK,coupled with inadequate sanitation,likely provided the opportunity for bacterial seeding,leading to IE and deepseated abscess or organ abscess.EHK may be associated with skin infection and multiple risk factors for extracutaneous infections.Patients with EHK should be treated early to minimize their consequences.If patients with EHK present with prolonged fever of unknown origin,IE and organ abscesses should be ruled out,including metastatic spreads.

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

Importance:Keratinopathic ichthyosis(KPI)represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1,KRT2,or KRT10 genes.In KPI,the relationship between genotype and phenotype is complex.Objective:To analyze the clinical manifestations and gene mutations in Chinese patients with KPI.Methods:Clinical data were collected from 13 children diagnosed with KPI,and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel,and the selected variants in the patients and their parents were further validated using the Sanger sequencing method.Results:Genetic analysis identified missense mutations in either KRT1 or KRT10 in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis.A missense hotspot mutation in KRT2 was identified in one patient with superficial epidermolytic ichthyosis.Additionally,two truncation mutations in KRT10 were detected,leading to the development of generalized ichthyosiform erythroderma.Ear malformation and ectropion at birth,scalp involvement,and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti.Interpretation:We analyzed the genotype-phenotype correlations in KPI,revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics.Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.