RESUMO
CASE REPORT: We report the case of a child short in stature with brachydactyly and brachymorphy who was referred to our office complaining of poor vision. This was a case of Weill-Marchesani's syndrome described in a family, in which four of the eight children were affected by spherophakia, brachymorphy and brachydactyly. DISCUSSION: There are few familial cases of Weill-Marchesani's syndrome reported in the literature. Both autosomal dominant and recessive inheritances have been described. The opththalmologist plays a crucial role in its diagnosis and management, since the ocular involvement is the most severe one.
Assuntos
Anormalidades Múltiplas , Ectopia do Cristalino , Dedos/anormalidades , Cristalino/anormalidades , Dedos do Pé/anormalidades , Adolescente , Ectopia do Cristalino/genética , Humanos , Pressão Intraocular , Masculino , Síndrome , Acuidade VisualRESUMO
Caso clínico: Presentamos el caso clínico de unniño con talla baja, braquidactilia y braquimorfiaremitido a la consulta por baja visión. Se trata de uncaso de síndrome de Weill-Marchesani en una familiaen la que cuatro de los ocho hijos presentan esferofaquia,braquimorfia y braquidactilia.Discusión: Existen pocos casos familiares del síndromede Weill-Marchesani reflejados en la literatura.Se han descrito patrones de herencia tantoautosómico dominante como recesivo. El papel deloftalmólogo en su diagnóstico y manejo es esencial,ya que la afectación oftalmológica es la más grave
Case report: We report the case of a child short in ;;stature with brachydactyly and brachymorphy who ;;was referred to our office complaining of poor ;;vision. This was a case of Weill-Marchesanis syndrome ;;described in a family, in which four of the ;;eight children were affected by spherophakia, ;;brachymorphy and brachydactyly. ;;Discussion: There are few familial cases of Weill- ;;Marchesanis syndrome reported in the literature. ;;Both autosomal dominant and recessive inheritances ;;have been described. The opththalmologist ;;plays a crucial role in its diagnosis and management, ;;since the ocular involvement is the most severe ;;one
Assuntos
Masculino , Criança , Humanos , Anormalidades Múltiplas , Cristalino/anormalidades , Anormalidades do Olho/diagnóstico , Erros de Refração/diagnóstico , Dedos/anormalidadesRESUMO
Mesotherapy is a treatment method devised for controlling pain syndromes or diseases by subcutaneous microinjections given at or around the involved areas at short intervals of time. Different adverse effects have been described due to this modality of treatment. This report describes 3 patients with cutaneous infection caused by Mycobacterium fortuitum after mesotherapy. Three women, aged 24, 27 and 44 years, presented with similar clinical features, consisting of painful nodules located at the points where mesotherapy had been applied. A smear from a skin biopsy revealed the presence of acid-fast bacilli in all 3 cases. The specimen was cultured and eventually identified as M. fortuitum. A multidrug long-term regimen (combinations of 3 drugs from the following: ciprofloxacin, cotrimoxazole, clarithromycin and amoxicillin-clavulanic acid) was needed to achieve resolution of the lesions. After 15, 25 and 26 months of follow-up, no patient relapsed. Mycobacterium fortuitum is a rapidly growing mycobacterium that can lead to cutaneous infection after minor surgical procedures when aseptic measures are not adequate. Multiple drugs for several months are usually needed to treat this disease successfully.
Assuntos
Quimioterapia Combinada/uso terapêutico , Microinjeções/efeitos adversos , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológico , Infecções por Mycobacterium não Tuberculosas/etiologia , Mycobacterium fortuitum , Dermatopatias Bacterianas/tratamento farmacológico , Dermatopatias Bacterianas/etiologia , Adulto , Combinação Amoxicilina e Clavulanato de Potássio/uso terapêutico , Antibacterianos/uso terapêutico , Ciprofloxacina/uso terapêutico , Claritromicina/uso terapêutico , Feminino , Humanos , Infecções por Mycobacterium não Tuberculosas/diagnóstico , Infecções por Mycobacterium não Tuberculosas/microbiologia , Mycobacterium fortuitum/isolamento & purificação , Dermatopatias Bacterianas/diagnóstico , Dermatopatias Bacterianas/microbiologia , Resultado do Tratamento , Combinação Trimetoprima e Sulfametoxazol/uso terapêuticoRESUMO
The accessibility of the skin to light treatment, as well as the developments made by dermatologists in photodynamic therapy (PDT), creates an exciting apportunity to include it as a part of our standard therapeutic armamentarium. We report a 63-year-old man with an in situ squamous cell carcinoma located on a chronic radiodermitis area in a finger, treated successfully with PDT. PDT appears to be a viable alternative to conventional therapy for in situ squamous cell carcinoma as well as for other superficial tumours of the skin.