RESUMEN
Mid-dermal elastolysis is an acquired skin condition affecting the elastin fibers of the dermis, resulting in laxity of the skin. We report a case of mid-dermal elastolysis for which novel treatment with mycophenolate mofetil was successful.
Asunto(s)
Tejido Elástico/patología , Inhibidores Enzimáticos/uso terapéutico , Ácido Micofenólico/uso terapéutico , Enfermedades de la Piel/tratamiento farmacológico , Adolescente , Diagnóstico Diferencial , Femenino , Glucocorticoides/uso terapéutico , Humanos , Inmunohistoquímica , Piel/patologíaRESUMEN
Although most infantile haemangiomas do not require treatment due to a natural history of spontaneous involution, some require early intervention. The Australasian Vascular Anomalies Network and the Australasian Paediatric Dermatology Network have developed a consensus statement for the treatment of infantile haemangiomas with oral propranolol. Infants with haemangiomas that are life threatening, at risk of ulceration, or at risk of causing a significant functional impairment, psychological impact or physical deformity should be treated early with oral propranolol. Oral propranolol is safe and effective and in most healthy infants oral propranolol can be started in an outpatient setting.
Asunto(s)
Consenso , Hemangioma Capilar/tratamiento farmacológico , Síndromes Neoplásicos Hereditarios/tratamiento farmacológico , Propranolol/uso terapéutico , Vasodilatadores/uso terapéutico , Monitoreo de Drogas , Humanos , Selección de Paciente , Propranolol/administración & dosificación , Vasodilatadores/administración & dosificaciónAsunto(s)
Melanoma/mortalidad , Melanoma/patología , Neoplasias Cutáneas/mortalidad , Neoplasias Cutáneas/patología , Predicción , Humanos , Melanoma/prevención & control , Invasividad Neoplásica , Prevención Primaria/tendencias , Factores de Riesgo , Neoplasias Cutáneas/prevención & control , Victoria/epidemiología , Melanoma Cutáneo MalignoRESUMEN
BACKGROUND AND OBJECTIVES: Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Prevalent patients were studied from 2012 to 2014 in the northeast and southwest of the United Kingdom. Clinical phenotypes were defined, and genetic analysis of SLC3A1 and SLC7A9 combining Sanger sequencing and multiplex ligation probe-dependent amplification was performed. RESULTS: In total, 76 patients (42 men and 34 women) were studied. All subjects had proven cystine stones. Median age of presentation (first stone episode) was 24 years old, but 21% of patients presented after 40 years old. Patients had varied clinical courses, with 37% of patients having ≥10 stone episodes; 70% had evidence of CKD, and 9% had reached ESRD as a result of cystinuria and its complications. Patients with cystinuria received a variety of different therapies, with no obvious treatment consensus. Notably, 20% of patients had staghorn calculi, with associated impaired renal function in 80% of these patients. Genetic analysis revealed that biallelic mutations were present in either SLC3A1 (n=27) or SLC7A9 (n=20); 22 patients had only one mutated allele detected (SLC3A1 in five patients and SLC7A9 in 17 patients). In total, 37 different mutant variant alleles were identified, including 12 novel mutations; 22% of mutations were caused by large gene rearrangements. No genotype-phenotype association was detected in this cohort. CONCLUSIONS: Patients with cystinuria in the United Kingdom often present atypically with staghorn calculi at ≥40 years old and commonly develop significant renal impairment. There is no association of clinical course with genotype. Treatments directed toward reducing stone burden need to be rationalized and developed to optimize patient care.
