RESUMO
La enfermedad de Addison es una patología endocrinológica ocasionada por la disminución en la secreción de hormonas esteroideas por parte de la corteza adrenal; debida a múltiples etiologías (más comúnmente la tuberculosis en países en vías de desarrollo); con una evolución lenta, insidiosa y progresiva. Pudiendo llegar a una insuficiencia adrenal aguda, misma que puede llegar a ser de extrema gravedad; y en caso de no ser diagnosticada y tratada adecuadamente puede llevar a la muerte. El tratamiento primordial lo constituye la terapia hormonal sustitutiva con fármacos corticoesteroideos.
Addison's disease is an endocrinological pathology caused by the decrease in the secretion of steroid hormones by the adrenal cortex, due to multiple etiologies (most commonly tuberculosis in developing countries); with a slow, insidious and progressive evolution. Being able to reach an acute adrenal insufficiency, which can become extremely serious, and if it is not diagnosed and treated properly, it can lead to death. The primary treatment is hormone replacement therapy with corticosteroid drugs
Assuntos
Humanos , Feminino , Adulto , Doença de Addison , Corticosteroides , Insuficiência Adrenal , Tuberculose , Terapia de Reposição Hormonal , Hormônios , HipotireoidismoRESUMO
Abstract Background: Transient pigmentary lines of the newborn are uncommon cutaneous lesions of unknown etiology. To date, only a few cases have been described. Case report: A patient with a combination of transient pigmentary lines and ocular malformation is described. Molecular analysis of the SRY-box 2 (SOX2) and MIFT genes was conducted to rule out any monogenetic etiology. Conclusions: Worldwide, this is the eighth case of transient pigmentary lines of the newborn reported, and the first associated with anophthalmia. No mutations in the analyzed genes (SOX2 and MIFT) were identified. Therefore, somatic mutations could be responsible for this anomaly.
Resumen Introducción: Las líneas transitorias pigmentarias del recién nacido son lesiones cutáneas poco comunes. A la fecha, pocos casos se han descrito. Caso clínico: Paciente neonato con la combinación de líneas transitorias hiperpigmentadas y una malformación ocular. Se realizó secuenciación molecular de los genes SOX2 y MIFT para descartar una etiología monogénica. Conclusiones: En todo el mundo, este es el octavo caso reportado de líneas transitorias hiperpigmentadas del recién nacido, y el primero asociado con anoftalmia. No se identificaron mutaciones en los genes estudiados (SOX2 y MIFT). Por lo tanto, las mutaciones somáticas pueden ser la causa de la afección.
Assuntos
Humanos , Recém-Nascido , Anoftalmia , Hiperpigmentação , Anoftalmia/diagnóstico , Anoftalmia/genética , Hiperpigmentação/diagnóstico , Hiperpigmentação/genética , MutaçãoRESUMO
Nevus of Ota is a hamartoma of dermal melanocytes presenting as blue hyperpigmented patches on the face usually within the distribution of ophthalmic and maxillary branches of the trigeminal nerve.[1] A case of giant nevus of Ota involving all three branches of the trigeminal nerve is presented.
RESUMO
McCune-Albright syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies. This article presents two cases of McCune-Albright syndrome in a middle-aged woman and a young girl. Both patients presented café-au-lait spots on the face and other parts of the body and expansion of the mandible with radiopaque-radiolucent areas with ground-glass radiographic appearance, and were diagnosed as having fibrous dysplasia and endocrine disorders. The patient of Case 1 had fibrous dysplasia on the upper and lower limbs, thorax, face and cranium, early puberty, hyperglycemia, hyperthyroidism and high serum alkaline phosphatase levels. The patient of Case 2 presented lesions on the upper limbs and evident endocrine disorders. In both cases presented in this article, the initial exam was made because of the mandibular lesion. However, a diagnosis of fibrous dysplasia must lead to investigation of the involvement of other bones, characterizing polyostotic fibrous dysplasia, which is manifested in a number of diseases. An accurate differential diagnosis is mandatory to determine the best treatment approach for each case.
A Síndrome de McCune-Albright é caracterizada pela tríade manchas café-com-leite na pele, displasia fibrosa poliostótica e endocrinopatias. Este artigo apresenta dois casos de Síndrome de McCune-Albright em uma mulher de meia idade e em uma menina. Ambos apresentavam manchas café-com-leite na face e em outras partes do corpo, expansão da mandíbula com área radiopaca-radiolúcida com aspecto de vidro despolido na radiografia, com o diagnóstico de displasia fibrosa, e desordens endócrinas. O paciente do Caso 1 apresentava displasia fibrosa nos membros inferiores e superiores, tórax, face e crânio, puberdade precoce, hiperglicemia, hipertireoidismo e elevação da fosfatase alcalina no sangue. O paciente do Caso 2 apresentava lesões nos membros superiores e desordem endócrina evidente. Em ambos os casos apresentados neste artigo, o exame inicial foi realizado devido à lesão mandibular. Contudo, o diagnóstico de displasia fibrosa deve conduzir a pesquisa de envolvimento de outros ossos, caracterizando a displasia fibrosa poliostótica, que se manifesta em um grande número de doenças. O diagnóstico diferencial preciso é fundamental para determinar o tratamento adequado a cada caso.