RESUMO
BACKGROUND: Infant death in keratitis-ichthyosis-deafness (KID) syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood. OBJECTIVE: We sought to discover characteristics that account for poor outcomes in lethal KID syndrome. METHODS: We collected 4 new cases and 9 previously reported, genotyped cases of lethal KID syndrome. We performed new molecular modeling of the lethal mutants GJB2 p.A88V and GJB2 p.G45E. RESULTS: Infant death occurred in all patients with GJB2 p.G45E and p.A88V; it is unusual with other GJB2 mutations. Early death with those 2 "lethal" mutations is likely multifactorial: during life all had ≥1 serious infection; most had poor weight gain and severe respiratory difficulties; many had additional anatomic abnormalities. Structural modeling of GJB2 p.G45E identified no impact on the salt bridge previously predicted to account for abnormal central carbon dioxide sensing of GJB2 p.A88V. LIMITATIONS: This clinical review was retrospective. CONCLUSION: GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. Those electrophysiologically severe mutations in GJB2 reveal abnormalities in many organs in lethal KID syndrome. All patients with KID syndrome may have subtle abnormalities beyond the eyes, ears, and skin. Early genotyping of KID syndrome births will inform prognostic discussion.
Assuntos
Anormalidades Congênitas/genética , Conexinas/genética , Surdez/genética , Surdez/fisiopatologia , Insuficiência de Crescimento/genética , Ictiose/genética , Ictiose/fisiopatologia , Ceratite/genética , Ceratite/fisiopatologia , Fístula do Sistema Respiratório/genética , Peso Corporal/genética , Conexina 26 , Conexinas/química , Surdez/patologia , Feminino , Genótipo , Humanos , Ictiose/patologia , Lactente , Morte do Lactente , Recém-Nascido , Ceratite/patologia , Masculino , Modelos Moleculares , Estrutura Molecular , MutaçãoRESUMO
Exposing wet hair to high temperatures can create gas bubbles within the hair shaft, leading to brittle, dry hairs in a disorder known as bubble hair abnormality. We present a case of a 61-year-old woman who presented for hair breakage over her crown. She regularly dried her damp hair with a blow dryer. Dermoscopy revealed multiple bubbles within the hair shaft, and diagnosis of bubble hair abnormality was confirmed by light microscopy. Our unusual case highlights the ease of acquisition of this abnormality by means of a common hair dryer, and the utility of dermoscopy to make a fast and accurate diagnosis within the office.
RESUMO
Gentian violet (GV) has a long and varied history as a medicinal agent. Historically used as an antibacterial and antifungal, recent reports have shown its utility as an antitypranosomal, antiviral and anti-angiogenic agent. The objective of this article is to summarize evidence regarding the efficacy and safety of GV use in dermatology. Recent discoveries have found novel targets of GV, namely NADPH oxidase in mammalian cells and thioredoxin reductase 2 in bacterial, fungal and parasitic cells. These discoveries have expanded the use of GV in the 21st century. Given that GV is well tolerated, effective and inexpensive, its use in dermatology is predicted to increase.