RESUMO
Epidermodysplasia verruciformis (EV) is a rare dermatological manifestation of the human papillomavirus (HPV) infection, which causes distinctive skin lesions in sun-exposed areas. Both inherited and acquired forms exist. Immunocompromised individuals, such as HIV patients, are at risk of acquired EV. EV poses challenges in its management and variable responses are seen in different individuals. In addition, EV carries a significant risk of skin malignancy with certain HPV types that require skin surveillance. A case of acquired EV in a HIV-positive patient is presented in this report.
Assuntos
Epidermodisplasia Verruciforme/patologia , Infecções por HIV/complicações , Hospedeiro Imunocomprometido , Adjuvantes Imunológicos/uso terapêutico , Adulto , Aminoquinolinas/uso terapêutico , Terapia Antirretroviral de Alta Atividade , Epidermodisplasia Verruciforme/etiologia , Feminino , Infecções por HIV/tratamento farmacológico , Humanos , Imiquimode , Pele/patologia , Resultado do TratamentoRESUMO
Setleis syndrome, focal facial dermal dysplasia type III (FFDD3, MIM #227260), is characterized by scar-like bitemporal lesions and other ocular and facial dysmorphic features. The syndrome results from recessive mutations in the TWIST2 gene, encoding a basic helix-loop-helix transcription factor or de novo genomic duplication or triplication, which include 1.3 Mb at 1p36.22p36.21, or other yet undefined lesions, emphasizing the syndrome's genetic heterogeneity. Recently, three patients were reported with 1p36.22p36.21 duplications/triplication that had the characteristic FFDD3 features and developmental delay or intellectual disabilities. Here, we describe a male with this microduplication, and the typical FFDD3 phenotype, but normal intelligence. Notably, his duplication was inherited from his father who did not have any FFDD3 manifestations, indicating lack of penetrance of the 1p36.22p36.21 microduplication. These findings emphasize phenotypic heterogeneity of the 1p36.22p36.21 copy number variant and the importance of screening the parents of patients with the 1p36.22p36.21 copy number variant to determine whether the duplication/triplication is de novo or inherited, for informed reproductive and genetic counseling.
Assuntos
Duplicação Cromossômica/genética , Cromossomos Humanos Par 1/genética , Hipoplasia Dérmica Focal/genética , Dermatopatias/genética , Displasia Ectodérmica , Feminino , Hipoplasia Dérmica Focal/patologia , Displasias Dérmicas Faciais Focais , Humanos , Masculino , Linhagem , Penetrância , Fenótipo , Proteínas Repressoras/genética , Dermatopatias/patologia , Proteína 1 Relacionada a Twist/genética , Adulto JovemRESUMO
A 3-year-old boy was referred to the dermatology department with a 12-month history of facial erythema associated with a papular-pustular facial eruption consistent with childhood acne. He had been diagnosed with XYY syndrome identified during genetic analysis for cardiac anomalies at birth. XYY syndrome is an aneuploidy of the sex chromosomes which affects 1 in 1000 male births. It is often asymptomatic and identified incidentally following genetic analysis for other conditions. The syndrome can be associated with an increased risk of learning difficulties and delayed language skills. Early diagnosis could alert physicians to the possibility of subtle developmental and learning abnormalities and result in prompt management. Our case highlights the fact that the presence of childhood acne could aid in the early detection of XYY syndrome.
