ABSTRACT
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
Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature and immune system. The authors report the case of a patient with cutaneous lesions and histological findings that are compatible with the vesicular stage, emphasizing the importance of early diagnosis and appropriate therapeutic management.
Subject(s)
Female , Humans , Infant , Genetic Diseases, X-Linked/pathology , Incontinentia Pigmenti/pathology , Rare Diseases/pathology , Rare Diseases/genetics , Skin Diseases, Vesiculobullous/genetics , Skin Diseases, Vesiculobullous/pathologyABSTRACT
Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.
Subject(s)
Humans , Male , Skin/pathology , Incontinentia Pigmenti/pathology , Tooth Abnormalities/etiology , Tooth Abnormalities/pathology , Cataract/etiology , Cataract/pathology , Incontinentia Pigmenti/complications , Central Nervous System Diseases/pathology , Alopecia/etiology , Alopecia/pathology , MutationSubject(s)
Humans , Female , Child , Incontinentia Pigmenti/diagnosis , Incontinentia Pigmenti/pathology , Skin/pathologyABSTRACT
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 Síndrome de Bloch-Sulzberger (Incontinência Pigmentar) é uma genodermatose rara, que afeta, principalmente, o sexo feminino, pois costuma ser letal em pacientes do sexo masculino intraútero. Caracteriza-se, principalmente, pelas manifestações dermatológicas, podendo também apresentar anomalias dentárias, oftalmológicas e neurológicas. As lesões cutâneas apresentam 4 fases distintas: vesiculosa, verrucosa, pigmentar e atrófica; que podem seguir uma sequência irregular, havendo até sobreposição das mesmas.
Bloch-Sulzberger syndrome (incontinentia pigmenti) is a rare genodermatosis that affects predominantly females, since it is generally lethal to male fetuses in utero. It is characterized principally by skin lesions, but may also involve dental, ophthalmological and neurological abnormalities. The skin lesions are present in four different phases: vesicular, verrucous, hyperpigmented and atrophic/hypopigmented. Their sequence is irregular and overlapping of stages is common.
Subject(s)
Female , Humans , Infant , Incontinentia Pigmenti/pathologyABSTRACT
Incontinentia pigmenti is a genetic disease with cutaneous, dental, neurologic and ophthalmologic manifestations. Ocular changes are very varied. Retinal vasculitis is uncommon, but can be observed in this disease. To report a case of a patient with retinal vasculitis associated to Incontinentia pigmenti. A seven year old girl was followed for cutaneous lesions with the diagnosis of incontinentia pigmenti confirmed by a skin biopsy. She had delayed eruption of her teeth some of which were conical. She had no neurologic nor developmental abnormalities. Ophthalmological examination and fluorescein angiography was performed and showed retinal neovascularization in the left eye, secondary to retinal ischemia and retinal sequelae vasculitis without inflammation or complications in the right eye. Laser photocoagulation was indicated to the left and a strict surveillance to the right eye. After one month of the beginning of treatment, we noticed an involution of the retinal neovascularisation. Early diagnosis and management of retinal changes in incontinentia pigmenti is essential because they may be serious leading to blindness
Subject(s)
Humans , Female , Incontinentia Pigmenti/pathology , Retinal Vasculitis/diagnosis , Child , Retinal NeovascularizationABSTRACT
La incontinencia pigmenti es una genodermatosis poco frecuente que afecta casi exclusivamernte a las mujeres. Describimos dos recién nacidos de sexo masculino, que desde el nacimiento presentan lesiones, caracterizadas por vesículas y pústulas sobre una base eritematosa y que seguían una distribución lineal. La biopsia de piel de ambos casos fue concordante con el diagnóstico de incontinencia pigmenti, primera etapa. Ninguno de ellos evidenció compromiso de otros órganos hasta los cuatro y seis meses de edad respectivamente. La escasez de casos masculinos descritos en la literatura motivó esta publicación
Subject(s)
Humans , Male , Infant, Newborn , Infant, Newborn, Diseases/diagnosis , Incontinentia Pigmenti/diagnosis , Limb Deformities, Congenital/diagnosis , Diagnosis, Differential , Drug Therapy, Combination/therapeutic use , Incontinentia Pigmenti/complications , Incontinentia Pigmenti/drug therapy , Incontinentia Pigmenti/pathologyABSTRACT
Se presenta un niño de 10 años de edad con lesiones musculosas dispuestas en arabescos y arremolinadas en tórax; lineales en miembros superiores e inferiores. Esta coexisten con afectación de SNC y compromiso óseo, dentario y ocular, constituyendo el cuadro de Hipomelanosis de Ito. Se efectúa microscopía electrónica para confirmar el diagnóstico. Se hace referencia a características clínicas y evolutivas, puntualizando las diferencias con otros síntomas neurocutáneos
Subject(s)
Humans , Child , Male , Skin Diseases, Genetic/diagnosis , Incontinentia Pigmenti/pathology , Keratinocytes/pathology , Melanocytes/ultrastructure , Nerve Endings/pathology , Pigmentation Disorders/ultrastructure , Abnormalities, Multiple , Diagnosis, Differential , Epilepsy , Incontinentia Pigmenti/diagnosis , Keratinocytes/ultrastructure , Melanocytes/pathology , Nerve Endings/ultrastructure , Neural Crest/pathology , Nevus/diagnosis , Pigmentation Disorders/diagnosis , Pigmentation Disorders/pathologyABSTRACT
Os autores fazem breve revisäo da literatura sobre Incontinência Pigmentar. Um caso da forma esporádica da síndrome, ocorrido no ambulatório de epilepsia do HU da UFJF, é relatado.
Subject(s)
Humans , Female , Child , Epilepsy/etiology , Incontinentia Pigmenti/diagnosis , Brazil , Incontinentia Pigmenti/genetics , Incontinentia Pigmenti/pathology , Neurologic Manifestations , Skin ManifestationsABSTRACT
Se presentan tres pacientes con Incontinentia Pigmenti (Síndrome de Bloch-Sulzberger), todos ellos del sexo femenino, siendo dos hermanas con anomalías oculares y neurológicas concomitantes y un tercer caso, linear localizado. Se pasa revista a las principales características de esta entidad
Subject(s)
Infant , Child , Humans , Female , Incontinentia Pigmenti/genetics , Diagnosis, Differential , Nervous System Diseases/complications , Incontinentia Pigmenti/complications , Incontinentia Pigmenti/pathologyABSTRACT
La Incontinencia Pigmenti o síndrome de Bloch-Sulzberger es una rara genodermatosis que tiene importancia para el pediatra, neurólogo, dermatólogo y genetista. Los autores presentan el primer caso reportado en la República de Panamá y contribuyen con uno más a la casuística mundial por la poca frecuencia de dicha enfermedad