ABSTRACT
La Incontinencia Pigmenti (IP) o síndrome de Bloch Sulzberger es un trastorno multisistémico neuroectodérmico, que afecta predominantemente al género femenino, cuya manifestación inicial incluye lesiones cutáneas que evolucionan por brotes. En ocasiones, se asocia a compromiso oftalmológico, neurológico y dentales parte del diagnóstico diferencial de lesiones ampollares en un neonato. Se presentan dos casos de IP diagnosticados en etapas cutáneas distintas, uno de ellos con compromiso neurológico.
Incontinentia Pigmenti (IP) or Bloch Sulzberger syndrome is a neuroectodermal multisystemic disorder, that predominantly affects women, whose initial manifestation includes skin lesions that evolve by outbreaks. Sometimes, is associated with ophthalmological, neurological and dental commitment. It is part of the differential diagnosis of bullous lesions in a newborn. We present 2 cases of IP diagnosed in different skin stages and one of them with neurological involvement.
Subject(s)
Humans , Female , Infant, Newborn , Incontinentia Pigmenti/diagnosis , Incontinentia Pigmenti/pathology , Diagnosis, Differential , Incontinentia Pigmenti/etiology , Incontinentia Pigmenti/therapyABSTRACT
A incontinência pigmentar é uma doença genética dominante ligada ao X, com comprometimento neurológico, oftalmológico, dental e cutânea. Este trabalho apresenta aspectos etiológicos e clínicos, tratamento e prognóstico
Subject(s)
Humans , Incontinentia Pigmenti/etiology , Incontinentia Pigmenti/physiopathology , Sex Chromosome Aberrations , X ChromosomeABSTRACT
Incontinentia Pigmenti is a rare X-linked multisystem neuroectodermic disorder with signs and symptonms related mainly to the dermatologic, dental, ocular and central nervous systems, and characterized by death in the majority of male embryos. Affected children do not appear sick, in spite of the skin eruption, the peripheral leucocytosis and marked eosinophilia. Most of the cases are reported in caucasians, although there are description in black children, orientals, north, central and south american indians, and in our mestizos. The name of Incontinentia Pigmeti describes the incontinence of the melain pigment from the basal layer of the epidemermis into the superficial dermis