RESUMEN
We report an unusual phenotype of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome most likely resulting from a novel X-chromosomal microdeletion encompassing the promoter region and exon 1 of the nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein gene, the neighboring gene CETN2, and more than 10 kb of noncoding deoxyribonucleic acid.
Asunto(s)
3-Hidroxiesteroide Deshidrogenasas/genética , Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Eritrodermia Ictiosiforme Congénita/genética , Deformidades Congénitas de las Extremidades/genética , Anomalías Múltiples/diagnóstico , Preescolar , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Humanos , Eritrodermia Ictiosiforme Congénita/diagnóstico , Deformidades Congénitas de las Extremidades/diagnóstico , SíndromeRESUMEN
Mycosis fungoides is the most common primary cutaneous T-cell lymphoma. The approach to diagnosis and further follow-up is outlined. Evidence for interventions is based classically on a Tumor Node Metastasis Blood TNMB "stage-based" approach. The treatment options in India are limited. The options as per risk stratification and prognostic index are discussed. Early stages and low-risk patients can be managed with expectant policy or skin-directed therapies including topical steroids and phototherapy; intermediate-risk patients can be opted for interferons or retinoids or low dose methotrexate along with radiotherapy including total skin electron beam therapy while high-risk patients are managed most often with single agent or multiagent palliative chemotherapy. Patients who are intermediate- or high-risk need management by a multispecialty team at tertiary care centers.