RESUMEN
Dercum's disease is a rare disease, which mainly affects women and has an unknown prevalence and aetiology. The disease is characterised by generalised obesity and more than three-month painful subcutaneous adipose tissue not responding to usual pain treatment. A suggested classi-fication of the disease includes four types: generalised diffuse, generalised nodular, localised nodular and juxta-articular. Diagnosis is one of exclusion, and treatment includes medical and surgical options with the aim of pain palliation and increased mobility and function.
Asunto(s)
Adiposis Dolorosa , Adiposis Dolorosa/diagnóstico , Adiposis Dolorosa/terapia , Femenino , Humanos , Obesidad , Dolor , Manejo del Dolor , Enfermedades RarasRESUMEN
Severe generalized dystrophic epidermolysis bullosa is described via a clinical case in an adult male. From the time of birth his skin was characterized by extensive blistering, slowly developing into chronic wounds with the formation of pseudosyndactyly. As he grew older extracutaneous involvement from other organ systems was seen. Specifically, the patient presented with chronic anaemia, growth retardation and ocular findings. At the age of 45, squamous cell carcinomas to the extremities indicate imminent amputation in an attempt to improve survival probability.
Asunto(s)
Carcinoma de Células Escamosas/patología , Epidermólisis Ampollosa Distrófica/patología , Neoplasias Cutáneas/patología , Amputación Quirúrgica , Carcinoma de Células Escamosas/etiología , Carcinoma de Células Escamosas/cirugía , Epidermólisis Ampollosa Distrófica/complicaciones , Extremidades/patología , Extremidades/cirugía , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Cutáneas/etiología , Neoplasias Cutáneas/cirugíaRESUMEN
A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palate and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth retardation.