ABSTRACT
El síndrome de Kindler, es una enfermedad muy poco frecuente debida a mutaciones que originan defectos en la unión actina-matriz extracelular. Suele cursar con ampollas acrales desde el nacimiento en zonas más expuestas a los traumatismos, fotosensibilidad marcada que mejora con la edad y desarrollo de poiquilodermia y atrofia cutánea. Con relativa frecuencia se describe afectación de mucosas y degeneración maligna
Kindler syndrome is a very rare disease caused by mutations resulting in defects in the extracellular matrix-actin link. It usually presents with acral blistering from birth in trauma-prone areas, pronounced photosensitivity that improves with age and the development of poikiloderma and cutaneous atrophy. Mucosal involvement and degeneration have been described with relative frequency
Subject(s)
Adult , Male , Humans , Photosensitivity Disorders/diagnosis , Photosensitivity Disorders/therapy , Skin Diseases, Genetic/complications , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/therapy , Epidermolysis Bullosa/diagnosis , Rothmund-Thomson Syndrome/diagnosis , Extracellular Matrix Proteins/genetics , Epidermolysis Bullosa/complications , Rothmund-Thomson Syndrome/complicationsABSTRACT
Las «manos de mecánico» constituyen un signo cutáneo característico de miositis inflamatoria idiopática. Se describe el caso de un paciente varón de 61 años que fue diagnosticado en el año 1999 de polimiositis idiopática y enfermedad pulmonar intersticial inespecífica y que 3 años después desarrolló unas lesiones hiperqueratósicas, escamosas y fisuradas en las caras laterales y caras palmares de los primeros 3 dedos de ambas manos, escasamente pruriginosas. La presencia en el suero del paciente del anticuerpo antisintetasa anti-Jo-1, el hallazgo de lesiones cutáneas de «manos de mecánico» y el resto de manifestaciones clínicas sistémicas del paciente permiten establecer el diagnóstico de «síndrome antisintetasa»
«Mechanics hands» are a characteristic cutaneous sign of idiopathic inflammatory myositis. We describe the case of a 61-year-old male patient who was diagnosed with idiopathic polymyositis and non-specific interstitial lung disease in 1999, and three years later developed scaly, fissured hyperkeratotic lesions on the lateral and palmar surfaces of the first three fingers of both hands, with little pruritus. The presence of the anti-Jo-1 antisynthetase antibody in the patients serum, the finding of skin lesions characteristic of «mechanics hands» and the patients other systemic clinical manifestations made it possible to establish the diagnosis of «antisynthetase syndrome»
Subject(s)
Male , Middle Aged , Humans , Myositis/diagnosis , Myositis/therapy , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/therapy , Keratoderma, Palmoplantar/complications , Adrenal Cortex Hormones/therapeutic use , Muscular Diseases/diagnosis , Muscular Diseases/therapy , Acanthosis Nigricans/complications , Acanthosis Nigricans/diagnosis , Biopsy , Myositis/classification , Dermatomyositis/complications , Dermatomyositis/diagnosis , Polymyositis/complications , Polymyositis/diagnosisABSTRACT
Kindler syndrome is a very rare disease caused by mutations resulting in defects in the extracellular matrix-actin link. It usually presents with acral blistering from birth in trauma-prone areas, pronounced photosensitivity that improves with age and the development of poikiloderma and cutaneous atrophy. Mucosal involvement and degeneration have been described with relative frequency.
Subject(s)
Skin Diseases/diagnosis , Actins/genetics , Adult , Extracellular Matrix Proteins/genetics , Humans , Male , Mutation , Skin Diseases/genetics , SyndromeABSTRACT
"Mechanic's hands" are a characteristic cutaneous sign of idiopathic inflammatory myositis. We describe the case of a 61-year-old male patient who was diagnosed with idiopathic polymyositis and non-specific interstitial lung disease in 1999, and three years later developed scaly, fissured hyperkeratotic lesions on the lateral and palmar surfaces of the first three fingers of both hands, with little pruritus. The presence of the anti-Jo-1 antisynthetase antibody in the patient's serum, the finding of skin lesions characteristic of "mechanic's hands" and the patient's other systemic clinical manifestations made it possible to establish the diagnosis of "antisynthetase syndrome."
