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
RESUMO Incontinência pigmentar, também conhecida como síndrome de Bloch-Sulzberger, é uma doença rara de herança dominante ligada ao X cujas manifestações clínicas incluem lesões dermatológicas típicas combinadas com acometimento neurológico, oftalmológico e dentário. Alterações oculares são comuns e variadas, sendo o acometimento da retina o mais frequente e associado a perda visual severa. Foi relatado um caso de uma criança com perda visual grave decorrente de glaucoma, sem alteração retiniana significativa.
ABSTRACT Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare dominant X-linked inheritance disease whose clinical manifestations include typical dermatological lesions combined with neurological, ophthalmic and dental involvement. Ocular involvment is common and diverse and retinal changes are the most frequent and associated with serious visual loss. We reported a case of a child with severe visual loss due to glaucoma, with no significant retinal changes.
Subject(s)
Humans , Female , Child , Incontinentia Pigmenti/complications , Glaucoma/etiology , Ophthalmic Solutions , Atrophy , Incontinentia Pigmenti/genetics , Case Reports , Trabeculectomy , Visual Acuity , Glaucoma/diagnosis , Glaucoma/therapy , Administration, Oral , Mitomycin/administration & dosage , Electroretinography , Retinal Pigment Epithelium/pathology , Bimatoprost/administration & dosage , Gonioscopy , Intraocular Pressure , Acetazolamide/administration & dosageABSTRACT
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 , MutationABSTRACT
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
La incontinentia pigmenti (IP) también conocida como síndrome de Bloch-Sulzberger, es una genodermatosis infrecuente ligada al cromosoma X que afecta tejidos derivados del neuroectodermo: piel, faneras, ojos, sistema nervioso central y dientes. En la etapa neonatal se plantean diagnósticos diferenciales como el impétigo ampollar, herpes neonatal, citomegalovirus, mastocitosis, epidermólisis ampollar hereditaria. El diagnóstico temprano permite detectar las posibles patologías asociadas, que son determinantes para el pronóstico del paciente.
Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare congenital X-linked genodermatosis with variable involvement of tissues derived from neuroectoderm and mesoderm skin, hair, nails, eyes and central nervous system. Differential diagnoses are manifested in the neonatal period, such as bullous impetigo, neonatal herpes, cytomegalovirus, mastocytosis and hereditary epidermolysis bullosa. Early diagnosis allows detection of associated diseases which determine the patients prognosis.
Subject(s)
Humans , Female , Infant, Newborn , Incontinentia Pigmenti/complications , Incontinentia Pigmenti/diagnosis , Incontinentia Pigmenti/physiopathology , Incontinentia Pigmenti/geneticsABSTRACT
Diagnóstico de un caso de enfermedad familiar a partir de un hidrops fetal. Gestante con 2 abortos previos ocurridos al inicio del segundo trimestre, ambos fetos masculinos. Se detecta en la semana 12 un higroma quístico en el contexto de un hidrops fetal. Estudio serológico (TORCH y parvovirus B12), con resultado negativo y biopsia corial con cariotipo 46 XY. La anamnesis y exploración detallada hacen sospechar una enfermedad ligada al cromosoma X, dado que la paciente y una hermana están afectas de una genodermatosis desde la infancia: Incontinentia Pigmenti.
We revealed a family disease by a fetal anomaly. The patient had a history of two early miscarriages of male fetuses. In the present pregnancy hydrops fetalis was demonstrated by routine ultrasound sean at 12 weeks. Serological tests were negative and chorionic villous sampling revealed normal karyotype, 46XY. We suspected a X-linked disease. Detailed family history leaded to the demonstration that the patient and a sister were affected of a rare genodermatosis: Incontinentia Pigmenti.
Subject(s)
Humans , Female , Pregnancy , Adult , Hydrops Fetalis/etiology , Incontinentia Pigmenti/complications , Incontinentia Pigmenti , Abortion, Spontaneous , Hydrops Fetalis , Incontinentia Pigmenti/genetics , Pregnancy ComplicationsABSTRACT
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
Relato de caso de incontinência pigmentar associado a condiloma de Buschke-Lowenstein. A síndrome de Bloch-Sulzberger, como também é denominada, é genodermatose autossômica dominante, ligada ao cromossoma X, e se caracteriza por alteraçöes pigmentares do tegumento e anormalidades de outros sistemas. Na literatura consultada näo há relatos das duas entidades associadas
Subject(s)
Humans , Female , Adolescent , Condylomata Acuminata/etiology , Incontinentia Pigmenti/complications , Incontinentia Pigmenti/diagnosis , Skin Diseases, Genetic/diagnosis , Diagnosis, Differential , Pigmentation Disorders/diagnosisABSTRACT
Relato de um caso de Incontinentia Pigmenti (IP), genodermatose rara ligada ao cromossoma X, caracterizada por erupçäo cutânea e alteraçöes multissistêmicas. As lesöes cutâneas apresentam-se em três estágios sucessivos: lesöes vesiculares, verrucosas e com hiperpigmentaçäo, mas, raramente, surgem ao mesmo tempo. Descreve-se um caso no qual as lesöes cutâneas surgiram simultaneamente
Subject(s)
Humans , Male , Female , Infant, Newborn , Incontinentia Pigmenti/diagnosis , Incontinentia Pigmenti/genetics , Pigmentation Disorders/etiology , X Chromosome , Diagnosis, Differential , Epidermolysis Bullosa , Genetic Counseling , Genetic Linkage , Incontinentia Pigmenti/complications , Pemphigoid, BullousABSTRACT
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