Síndrome de Rothmund Thomson: serie de 4 casos, Hospital Universitario de Caracas.
Palabras clave:
Síndrome Rothmund-Thomson, poiquilodermia congénita, anomalías cutáneas, telangiectasia, fotosensibilidad, displasia ectodérmica.Resumen
El síndrome de Rothmund Thomson (SRT) es una genodermatosis autosómica recesiva rara, asociada a consanguinidad, que se manifiesta en la niñez. Existen 2 variantes bien definidas: el SRT tipo 1 que cursa con fotosensibilidad, poiquilodermia, cataratas congénitas y displasia ectodérmica asociadas a anomalías del gen ANAPC1 y el SRT tipo 2, con poiquilodermia y defectos óseos congénitos, debidos a mutación del gen RECQL4, con un elevado riesgo de malignidad. El diagnóstico es fundamentalmente clínico pero debe ser confirmado mediante el análisis de mutaciones polimórficas de los genes RECQL4 y ANAPC1. El manejo de estos pacientes es interdisciplinario y se recomienda asesoría genética. Se reportan 4 pacientes venezolanos evaluados en el lapso de 20 años en el Hospital Universitario de Caracas.
Rothmund-Thomson Syndrome: report of 4 cases at Hospital Universitario de Caracas
Summary
Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis that affects children, associated with consanguinity. RTS-I typically presents photosensitivity, poikiloderma, juvenile cataracts and ectodermal dysplasia caused by pathogenic variants in ANAPC1. Additionally, RTS-II is characterized by poikiloderma and skeletal abnormalities originated by a mutation in the RECQL4 gene, frequently associated with high risk malignancies. Its diagnosis is based on clinical characteristics, but has to be confirmed with the presence of pathogenic variants in ANAPC1 or RECQL4 identified on molecular genetic testing. Patient's treatment is interdisciplinary and genetic counseling is often recommended. Throughout this work we present four venezuelan cases with RTS previously evaluated in the 'Hospital Universitario de Caracas’ in the last 20 years.
Key words: Rothmund-Thomson syndrome; poikiloderma congenitale; skin abnormalities; telangiectasis; photosensitivity disorders; ectodermal dysplasia.
Referencias
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