ABSTRACT
RESUMEN La incontinencia pigmentaria, también conocida como síndrome de Bloch-Sulzberger, es una rara genodermatosis ligada al cromosoma X, localizado en el Xq28. Afecta al sexo femenino y tiene diferentes expresiones clínicas en una misma familia. Es una enfermedad multisistémica, caracterizada por afectar de forma variable a los tejidos derivados del neuroectodermo, la piel, ojos, dientes y el sistema nervioso central. Las lesiones cutáneas son las más significativas desde el nacimiento, y la biopsia confirma el diagnóstico. Debido a la rareza de esta entidad, se presentó el caso de una lactante de un mes, con antecedente familiar de incontinencia pigmentaria, quien exhibía lesiones típicas en la piel desde la primera semana de vida, en diferentes fases, que siguen las líneas de Blaschko. Se constataron manifestaciones oculares y eosinofilia (AU).
ABSTRACT Pigmentary incontinence, also known as Bloch-Sulzberger syndrome, is a rare X chromosome-linked genodermatosis, located in Xq28. It affects the female sex and has different clinical manifestations in the same family. Ii is a multi-systemic disease characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin, the eyes, the teeth and the central nervous system. Skin lesions are the most significant ones since birth time, and skin biopsy confirms the diagnosis. Due to the rareness of this entity, we presented the case of a nursing female infant aged one month, with a family history of pigmentary incontinence, who presented typical lesions in the skin, since his first week of life, in different phases, following the lines of Blaschko. Ocular manifestations and eosinophilia were confirmed (AU).
Subject(s)
Humans , Female , Incontinentia Pigmenti/epidemiology , Disease/genetics , Signs and Symptoms , Biopsy/methods , Incontinentia Pigmenti/complications , Incontinentia Pigmenti/diagnosis , Incontinentia Pigmenti/therapyABSTRACT
Incontinentia pigmenti es una rara genodermatosis ligada al cromosoma X caracterizada por lesiones ampollares distribuidas sobre las líneas de Blaschko. Esta se presenta en cuatro estadios: vesicular, verrugoso, hiperpigmentado y atrófico. Es más frecuente en mujeres por su letalidad en varones, aunque hay casos de sobrevivencia en ellos. Se presenta el caso de un varón de 30 días de nacido que presentó lesiones vesiculo-ampollares de distribución lineal siguiendo las líneas de Blaschko. Se le realizó una biopsia cutánea cuya conclusión fue incontinentia pigmenti en estadio vesicular. Este es el primer caso varón reportado en la literatura peruana...
Incontinentia pigmenti is a rare X-linked dermatosis characterized by bullous lesions distributed along Blaschko´s lines. Four clinical stages are recognized: blister, verrucous or wart like lesions, hyperpigmentation and atrophic lesions. We present the case of a 30-day old male patient who presented with blisters and bullous lesions distributed along Blaschko´s lines. A skin biopsy was performed that confirmed the diagnosis. This is the first report of a male patient in Peru with the syndrome...
Subject(s)
Humans , Male , Infant, Newborn , Incontinentia Pigmenti , Incontinentia Pigmenti/diagnosis , Incontinentia Pigmenti/pathology , Incontinentia Pigmenti/therapy , PeruABSTRACT
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
La incontinencia pigmentaria (IP) es una genodermatosis rara. Las lesiones cutáneas están presentes en todos los afectados y evolucionan en estadios. El primero es el eritemato-ampollar, cuyo diagnóstico diferencial incluye una gran variedad de enfermedades. Presentamos el caso de un neonato de sexo femenino, con vesículas presentes desde el nacimiento cuya biopsia cutánea confirmó el diagnóstico de IP.(AP)
Incontinentia pigmenti (IP) is a rare genodermatosis. Skin lesions, that are present in all patients affected, evolve in stages. The first is the erythematous blistering stage, wich differentialdiagnosis includes a wide variety of diseases. We present a case of a female neonate with blisters present at birth, where the skin biopsy confirmed the diagnosis of IP.
Subject(s)
Humans , Female , Infant, Newborn , Incontinentia Pigmenti/complications , Incontinentia Pigmenti/diagnosis , Incontinentia Pigmenti/therapyABSTRACT
Incontinentia Pigmenti is a hereditary syndrome affecting primarily the skin and teeth, sometimes accompanied by lesions of the eyes and/or central nervous system. Dental manifestations can include the agenesis of several teeth, and comprehensive dental treatment should take into account the long term rehabilitation of the oral cavity. The case of two sisters with the Incontinentia Pigmenti syndrome is presented in this report