RESUMEN
We report two cases with localized vascular malformations clinically resembling the "dominant lesion" seen in capillary malformation-arteriovenous malformation (CM-AVM) syndrome, however, lacking germline RASA1 variants but presenting double somatic RASA1 variants in affected tissue. Both patients presented with localized and superficial high-flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic RASA1 variants, contributes to understanding the "second-hit" pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling.
Asunto(s)
Alopecia , Colangitis Esclerosante , Claudina-1/deficiencia , Hiperbilirrubinemia , Ictiosis , Trastornos Leucocíticos , Ácido Ursodesoxicólico/administración & dosificación , Alopecia/diagnóstico , Alopecia/genética , Alopecia/fisiopatología , Alopecia/terapia , Colagogos y Coleréticos/administración & dosificación , Colangitis Esclerosante/diagnóstico , Colangitis Esclerosante/genética , Colangitis Esclerosante/fisiopatología , Colangitis Esclerosante/terapia , Colestasis/diagnóstico , Colestasis/etiología , Colestasis/fisiopatología , Claudina-1/genética , Femenino , Pruebas Genéticas/métodos , Humanos , Hiperbilirrubinemia/diagnóstico , Hiperbilirrubinemia/etiología , Ictiosis/diagnóstico , Ictiosis/genética , Ictiosis/fisiopatología , Ictiosis/terapia , Recién Nacido , Trastornos Leucocíticos/diagnóstico , Trastornos Leucocíticos/genética , Trastornos Leucocíticos/fisiopatología , Trastornos Leucocíticos/terapia , Pruebas de Función Hepática/métodos , Mutación , Transaminasas/sangre , Vitaminas/administración & dosificaciónRESUMEN
Demodex mites are commensal organisms rarely found in healthy children. Human demodicosis can be classified as a primary or a secondary form. The secondary form in children usually affects severely immunodepressed children. To our knowledge, this is the first report of human demodicosis associated with Langerhans cell histiocytosis. These cases show that this skin disorder can occur months after completing chemotherapy, without recurrence of the systemic disease.
