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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).

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Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.

La incontinencia pigmenti es un trastorno neurocutàneo raro, con una frecuencia de 1 en 40 000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG, localizado en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal y puede asociar afectación cutànea, dental, ocular y neurológica, y cada una de estas con un diagnóstico diferencial distinto. Se presenta a una paciente pediàtrica con diagnóstico de incontinencia pigmenti a la semana de vida. En la evaluación oftalmológica inicial, se observaron lesiones vasculares retinianas. Se decidió el tratamiento con làser, con buenos resultados, y se consiguió estabilizar la visión.

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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.

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OBJECTIVES: Current knowledge on dental anomalies in patients with incontinentia pigmenti (IP) has been obtained by examining case reports; however, an overall characterization of such alterations remains lacking. The objective of this study was to determine the frequency, type and location of dental alterations in IP using a case series. METHODS: Fourteen patients (9 children and 5 adults) with a clinical diagnosis of IP who presented dental anomalies were included in this study. All patients were administered a clinical questionnaire, dental examination and radiological investigation. RESULTS: In the present case series, agenesis of primary dentition was present in 60 % of patients and agenesis of permanent tooth was present in 92.8 % of patients. Most cases were missing at least 6 teeth. Second molar agenesis was present in 13 patients (92.8 %). Anomalies in dental crowns occurred in 71.4 % of cases, and the central incisor was most frequently affected. Two adult patients still had primary teeth. Malocclusion was found in 10 patients (71.4 %). High-arched palate was observed in 7 (50 %) patients. CONCLUSIONS: Patients with IP present alterations in both primary and permanent dentition. Because the agenesis of permanent teeth is more common, primary teeth are not always replaced. In addition, the durability of primary dentition appears to be greater in IP. CLINICAL SIGNIFICANCE: This study shows that patients with IP experience significant loss of teeth, especially in permanent dentition, and have an increased risk of high-arched palate compared to the general population. Prophylactic care of primary teeth in IP is relevant for improving functional and aesthetic outcomes until dental prostheses are implanted.

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BACKGROUND: Incontinentia pigmenti (IP) is a rare genodermatosis with early prenatal lethality in affected males. Clinical manifestations are usually more exuberant in sporadic than in familial cases. Cutaneous manifestations occur in all sporadic cases and about 96% of familial cases. As well as the skin, other tissues arising from the neuroectoderm may be affected. OBJECTIVES: This study was designed to evaluate dermatologic, dental, neurologic, and ophthalmologic manifestations in patients with IP. METHODS: Findings in IP patients and family members also diagnosed with IP in Porto Alegre, Brazil, during 2003-2012, were analyzed. RESULTS: Thirteen children and seven relatives were diagnosed with IP; 38.4% of cases were familial, and 61.5% were sporadic. Mean ± standard deviation follow-up was 46.08 ± 39.47 months. Frequencies of 100% and 85.7% for dermatologic manifestations, 23.0% and 0% for neurologic manifestations, 62.5% and 71.4% for dental manifestations, and 11.1% and 42.8% for ophthalmologic manifestations were found in affected children and relatives, respectively. Associated diseases include Wilms' tumor, myasthenia gravis, Still's syndrome, and congenital hypothyroidism. CONCLUSIONS: These findings reinforce the heterogeneity of dermatologic findings and the numerous extracutaneous manifestations requiring a multidisciplinary approach. The follow-up of patients with IP is important in the detection of serious associated diseases. The relationships between these disorders and IP raise the need for additional longitudinal studies with longterm monitoring of these patients. The management of IP in clinical practice may benefit from early efforts to detect associated diseases.

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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.

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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.

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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.

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We report the case of an 8-days-old patient with linear rows of vesiculobullous lesions from birth. Along with these lesions, the neonate had eosinophilia, which made us arrive to the clinical diagnosis of Incontinentia Pigmenti. Incontinentia Pigmenti or Bloch Sulzberger disease is a multisystemic neuroectodermal disorder that affects mostly women, which includes as initial manifestation cutaneous lesions that evolve by outbreaks. Occasionally, it is associated with neurologic, ophthalmologic, and dental compromise. This must be considered as a differential diagnosis when a neonate presents vesiculobullous lesions.

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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.

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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.

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Incontinentia pigmenti (IP) is a genodermatosis with an X-linked dominant mode of inheritance, characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations. The purpose of this case study was to report the oral and dental manifestations of an IP case in a Venezuelan pediatric patient. A 9 year-old Venezuelan girl was evaluated. She showed macular pigmented lesions in her face, trunk, back, legs, and fingers as well as abnormal hair distribution, alopecia on the vertex, and hypoplasia of eyebrows. During the dental examination, conical shaped-teeth and delayed dental eruption was evidenced. The microanalytical examination showed dentin without significant alterations in the mineralization except for hypermineralization in focal areas. In addition, a decrease in the enamel mineralization was observed.

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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

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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

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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

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A syndrome--incontinentia pigmenti--of probable genetic etiology, is discussed and a new case report presented. The syndrome presents systemic and dental manifestations, which are separate although similar to those found in other disease entities, i.e., congenital syphilis, hereditary ectodermal dysplasia.

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