RESUMEN
PTEN hamartoma tumor syndromes (PHTS) comprise hamartomatous overgrowth syndromes associated with PTEN germline mutations. In this case report, we describe a variant identified by next generation sequencing causing peculiar dermatological and skeletal features not yet described in the literature. Being cognizant of such unique disease presentations in PHTS, that manifest at a very young age, could help facilitate a timely diagnosis by clinicians and thus the early education of families on active cancer surveillance. This specific case also strengthens the concept of variable presentation of PHTS and the need for genetic testing early on, even if not all criteria for PHTS are met for a formal clinical diagnosis.
Asunto(s)
Síndrome de Hamartoma Múltiple , Humanos , Síndrome de Hamartoma Múltiple/diagnóstico , Síndrome de Hamartoma Múltiple/genética , Síndrome de Hamartoma Múltiple/patología , Fosfohidrolasa PTEN/genética , Pruebas Genéticas , Mutación de Línea GerminalRESUMEN
Stiff skin syndrome (SSS) is a rare, autosomal dominant cutaneous disorder with progressive, symmetric, sclerotic skin changes of the shoulders, hips, and thighs. In a recent publication, a distinct segmental variant of SSS was proposed. In this report we discuss the case of a boy with segmental SSS and review the current literature.
Asunto(s)
Bloqueadores del Receptor Tipo 1 de Angiotensina II/uso terapéutico , Contractura/tratamiento farmacológico , Losartán/uso terapéutico , Enfermedades Cutáneas Genéticas/tratamiento farmacológico , Niño , Diagnóstico Diferencial , Humanos , Masculino , Piel/patologíaRESUMEN
Flagellate dermatitis, a cutaneous eruption in which the patient appears to have been whipped, has been described with antineoplastic agents and shiitake mushroom ingestion. A 15-year-old girl with metastatic Ewing sarcoma developed pruritic erythematous linear lesions on her trunk that became hyperpigmented over time during her first cycle of chemotherapy with doxorubicin, vincristine, cyclophosphamide, and ganitumab. Flagellate dermatitis was diagnosed based on clinical and histologic findings. Flagellate dermatitis (FD) is a rare cutaneous eruption named for its appearance, in which the patient appears to have been whipped. It has been associated with chemotherapeutic agents such as bleomycin . We report FD in a child that occurred during chemotherapy treatment that included doxorubicin.
