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1.
BMJ Case Rep ; 15(8)2022 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-36367816

RESUMO

Lesions of the oral mucosa due to human papillomavirus (HPV) present in various clinical forms. The case of a man in his 50s is reported. This patient was referred for multiple whitish oral lesions, unresponsive to antifungal drugs, in a context of pneumocystis having revealed a therapeutic break of an HIV antiretroviral treatment. The lesions had appeared a few days after treatment resumption. Clinical examination revealed multiple lesions on the lips, the inner sides of the cheeks and lips and on the tongue. The patient reported burning sensations in the mouth. The diagnosis of multiple papillomas was made in view of the characteristic clinical picture and history of the disease: appearance of oral papular lesions with multiple locations, which may reveal a context of severe immunodeficiency. HPV lesions are more frequent in HIV-positive patients and may increase on initiation of antiretroviral therapy.


Assuntos
Infecções por HIV , Doenças da Boca , Papiloma , Infecções por Papillomavirus , Masculino , Humanos , Infecções por Papillomavirus/tratamento farmacológico , Antirretrovirais/efeitos adversos , Papillomaviridae , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Papiloma/induzido quimicamente , Doenças da Boca/tratamento farmacológico
2.
Bone Rep ; 16: 101524, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35372644

RESUMO

Objective: Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating Fibroblast Growth Factor Receptor (FGFR) 1-3 mutations. Gain-of-function FGFR3 mutations are also responsible for various conditions referred to as osteochondrodysplasia (OCD), characterized by structural and functional abnormalities of growth plate cartilages. We hypothesized that patients with FGFR-related faciocraniosynostoses may present extra-cranial growth anomalies. Study design: We retrospectively collected height and weight data from a cohort of 70 patients. Included patients were admitted for FGFR-related FCS between 2000 and 2021 at the Craniofacial Unit of Necker - Enfants Malades University Hospital in Paris, France. Results: We showed that FGFR-related faciocraniosynostoses had significantly reduced heights and weights relative to controls, and that two specific time periods (1-3 years and > 8 years of age) were associated with lower height and weight values. Four patients had received growth hormone treatment but remained below normal values for growth in height and weight. Conclusions: Patients with FGFR-related faciocraniosynostoses have clinically significant extra-cranial anomalies which are not currently investigated and managed in usual protocols; these patients could benefit from a systematic pre-pubertal endocrine assessment. More generally, our results extend the scope of extracranial anomalies in FGFR-related faciocraniosynostoses and support the hypothesis that all conditions with activating FGFR mutations affect both membranous ossification and long bones.

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