RESUMO
BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. It overlaps phenotypically with other dyschromatoses, but can now be distinguished by mutations in the KIT ligand gene (KITLG). AIM: We report two unrelated white families with similar phenotypic presentations of FPHH developing in early childhood in several generations. METHODS: Sanger sequencing of the exons and flanking introns of KITLG was performed. RESULTS: This identified a new heterozygous missense mutation in each family (p.Thr34Asn and p.Val37Gly, respectively). Of the six affected individuals examined by us, two had cancer: a 62-year-old man in family 1 had developed two primary melanomas and a pharyngeal carcinoma, and a 42-year-old woman in family 2 had developed thyroid carcinoma. All had unusually sparse lateral eyebrows, a finding not previously reported in this condition. CONCLUSIONS: We summarize the genetic spectrum of the dyschromatoses and discuss a possible increased risk of malignancy in FPHH.
Assuntos
Hiperpigmentação/genética , Hipopigmentação/genética , Mutação de Sentido Incorreto , Fator de Células-Tronco/genética , Adulto , Criança , Pré-Escolar , Éxons , Feminino , Humanos , Íntrons , Masculino , Pessoa de Meia-Idade , Neoplasias/complicações , LinhagemRESUMO
BACKGROUND: Teledermatology (TD) has been developed as an alternative to face-to-face (FTF) dermatology care in remote areas. AIM: To assess the feasibility of TD in remote supervision and education of a general practitioner with special interest (GPwSI), to reduce FTF consultations with the consultant dermatologist, and to provide appropriate diagnosis and care. Our secondary aim was to evaluate patient satisfaction with this mode of consultation. METHODS: A TD service in Aberdeen was set up to augment supervision of a remote rural GP training in dermatology. This service was audited over a 2-year period to assess its usefulness in the education of the remote GP. RESULTS: Prospective data on 230 selected referrals was analysed. Store-and-forward TD provided a high level of patient satisfaction, and was effective in remote supervision and education of a GPwSI in dermatology. FTF consultations with the consultant were avoided in 69% of consultations, and diagnostic agreement was considered high (61%). Educational feedback was given to the GP in 66% of consultations. CONCLUSIONS: TD can supplement infrequent specialist dermatology service in remote areas, as in this case. We conclude that for selected patients, TD was a useful training tool for supervising the GPwSI, and ensuring clinical governance and quality assurance in clinics in a remote rural area. However, this model of care was limited by cost and the inherent limitations of TD.
Assuntos
Dermatologia/educação , Medicina de Família e Comunidade/educação , Dermatopatias/diagnóstico , Telemedicina/organização & administração , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Dermatologia/organização & administração , Diagnóstico Diferencial , Educação de Pós-Graduação em Medicina/organização & administração , Medicina de Família e Comunidade/organização & administração , Estudos de Viabilidade , Feminino , Humanos , Lactente , Conhecimento Psicológico de Resultados , Masculino , Auditoria Médica , Pessoa de Meia-Idade , Satisfação do Paciente , Fotografação , EscóciaRESUMO
Inflammatory skin diseases are frequently chronic skin conditions affecting many people at all stages of life. This article is a review intended to bring clinicians up to date with recent advances in the knowledge and management of inflammatory skin diseases, conditions that are commonly seen in general medicine and will be encountered in MRCP(UK) PACES and OSCE examinations.
