Incontinencia pigmenti y manifestaciones neurológicas / Incontinentia pigmenti and neurological manifestations

Introducción: la incontinencia pigmenti es una genodermatosis rara ligada al cromosoma X, afecta al sexo femenino y tiene diferentes expresiones clínicas en una misma familia. Presentación del caso: preescolar de 20 meses de edad, con antecedente familiar de incontinencia pigmenti, que presentó lesiones típicas en la piel desde la primera semana de vida, de aspectos lineales, vesículo-costro-ampollosas, verrucosas, y luego hiperpigmentadas, en diferentes fases y múltiples brotes. Comienza desde el primer mes de vida con crisis epilépticas que evoluciona a una encefalopatía de West, con buena respuesta a la vigabatrina y control de los espasmos infantiles. Conclusiones: la incontinencia pigmenti se caracteriza por afectar, de forma variable, a los tejidos derivados del neuroectodermo, la piel y otras faneras, ojos y el sistema nervioso central, provoca daño multisistémico. Las lesiones de la piel son las más significativas desde el nacimiento, y la biopsia de piel confirma el diagnóstico(AU)

Introduction: incontinentia pigmenti is a rare genodermatosis linked to the X chromosome. It affects the female sex and has different clinical manifestations in the same family. Case presentation: a 20-month-old infant with a family history of incontinentia pigmenti, who from the first week of life presented typical lesions on the skin of linear, vesicular-crust-bullous, warty, and then hyperpigmented aspects, in different phases and multiple outbreaks. From the first month of life, the patient presented epileptic seizures that evolved to West encephalopathy, with good response to vigabatrin and control of infantile spasms. Conclusions: incontinentia pigmenti is characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin and other skin´s structures, the eyes and the central nervous system causing multisystem damage. Skin lesions are the most significant since birth, and skin biopsy confirms the diagnosis(AU)

Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb.

Phakomatosis pigmentovascularis (PPV) is a rare combination of pigmentary and vascular components with or without systemic involvement. We report here a rare association of Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and PPV type IIb in a 15-year-old boy who had right upper limb monoparesis along with a history of recurrent convulsions.

Importância da análise cromossômica dos fibroblastos em casos suspeitos de mosaicismo: experiência de um serviço de genética clínica / Importance of the fibroblast chromosomal analysis in suspected cases of mosaicism: experience of a clinical genetics service / Importancia del análisis cromosómico de los fibroblastos en casos sospechosos de mosaicismo: experiencia de un servicio de genética clínica

OBJETIVOS: Verificar características clínicas e achados citogenéticos de pacientes com suspeita de mosaicismo submetidos à avaliação cromossômica por meio do cariótipo por bandas GTG de linfócitos e fibroblastos. MÉTODOS: Realizou-se uma análise retrospectiva dos pacientes avaliados no Serviço de Genética Clínica do Complexo Hospitalar Santa Casa de Porto Alegre da Universidade Federal de Ciências da Saúde de Porto Alegre, entre 1975 e 2009, por meio da coleta de dados clínicos e resultados da avaliação citogenética. RESULTADOS: A amostra foi composta de 15 pacientes, seis (40 por cento) do sexo masculino, e idades variando de dez dias a 14 anos. Na análise cromossômica do sangue, alterações foram observadas em quatro pacientes (26,7 por cento), incluindo-se um caso de translocação balanceada [t(2;9)pat] e três de mosaicismo [um caso, respectivamente, de mos 45,X/46,X,+mar; mos 46,XY,r(12)/45,XY,-12/47,XY,r(12),+r(12) e mos 46,XY/47,XY,+9]. Com o objetivo de confirmar ou mesmo identificar um mosaicismo cromossômico, os pacientes foram submetidos posteriormente ao cariótipo de pele. Os principais motivos pelos quais os pacientes com cariótipo do sangue sem mosaicismo apresentaram tal suspeita foram a presença de hemi-hipertrofia (n=5) e de manchas hipocrômicas seguindo as linhas de Blaschko (n=4). Mosaicismo foi confirmado em dois casos e identificado em outros dois (dois casos de mos 46,XX/47,XX,+22). O mos 46,XY/47,XY,+9 não foi verificado no estudo dos fibroblastos. CONCLUSÕES: Os resultados ilustram a variabilidade tecidual característica dos casos de mosaicismo cromossômico, bem como confirmam a importância da avaliação de um segundo tecido para a determinação diagnóstica. Achados clínicos, como assimetria de membros e anomalias pigmentares seguindo as linhas de Blaschko, são fortemente indicativos da presença de mosaicismo.

OBJECTIVE: To verify clinical characteristics and cytogenetic findings of patients suspects of having mosaicism and submitted to chromosomal analysis of lymphocytes and fibroblasts through GTG-Banding karyotype. METHODS: This is a retrospective analysis of the patients evaluated in the Genetic Clinic of Complexo Hospitalar Santa Casa de Porto Alegre of the Universidade Federal de Ciências da Saúde de Porto Alegre, from 1975 to 2009 (clinical data and results of cytogenetic exams were evaluated). RESULTS: Fifteen patients were enrolled, being six males (40 percent) with ten days to 14 years-old. Alterations in the chromosomal analysis of blood were observed in four patients (26.7 percent) and included one case of balanced translocation [t(2;9)pat] and three cases of mosaicism [mos 45,X/46,X,+mar; mos 46,XY,r(12)/45,XY,-12/47,XY,r(12),+r(12) and mos 46,XY/47,XY,+9]. The patients were then submitted to skin karyotype to confirm or to identify a chromosomal mosaicism. The main reasons for such suspicion in patients with blood karyotype without mosaicism were the presence of hemihypertrophy (n=5) and skin spots following the Blaschko lines (n=4). Mosaicism was confirmed in two cases and identified in another two (two cases of mos 46,XX/47,XX,+22). The mos 46,XY/47,XY,+9 was not verified in the fibroblast study. CONCLUSIONS: Our results highlight the tissue variability that is characteristic of chromosomal mosaicism, as well as confirm the importance of the evaluation of a second tissue for the diagnosis. Clinical findings, as limb asymmetry and pigmentary anomalies following the Blaschko lines, are strongly indicative of mosaicism.

OBJETIVOS: Verificar características clínicas y hallazgos citogenéticos de pacientes con sospecha de mosaicismo sometidos a la evaluación cromosómica mediante cariotipo por bandas GTG de linfocitos y fibroblastos. MÉTODOS: se realizó un análisis retrospectivo de los pacientes evaluados en el Servicio de Genética Clíncia de UFCSPA/CHSCPA, en el periodo de enero de 1975 a junio de 2008, mediante la recolección de datos clínicos y resultados de la evaluación citogenética. RESULTADOS: La muestra estuvo compuesta por 15 pacientes, 6 de ellos (40 por ciento) del sexo masculino y edades variando entre 10 días y 14 años. En el análisis cromosómico de la sangre, se observaron alteraciones en 4 (26,7 por ciento) y se incluyó 1 caso de translocación balanceada [t(2;9)pat] y 3 de mosaicismo [1 caso, respectivamente, de mos 45,X/46,X,+mar; mos 45,XY,-12/46,XY,r(12)/47,XY,r(12),+r(12) y mos 47,XY,+9/46,XY]. Con el objetivo de confirmar, o incluso identificar un mosaicismo cromosómico, los pacientes fueron sometidos posteriormente al cariotipo de piel. Los principales motivos por los que los pacientes con cariotipo de la sangre sin mosaicismo presentaron tal sospecha fueron la presencia de hemihipertrofia (n=5) y de manchas hipocrómicas siguiendo las líneas de Blaschko (n=4). Se confirmó el mosaicismo en 2 casos y se identificó en otros 2 (2 casos de mos 47,XX,+22/46,XX). El mos 47,XY,+9/46,XY no fue verificado en el estudio de los fibroblastos. CONCLUSIONES: Los resultados demuestran la variabilidad tejidual característica de los casos de mosaicismo cromosómico, así como confirman la importancia de la evaluación de un según tejido para la determinación diagnóstica. Hallazgos clínicos, como asimetría de miembros y anomalías pigmentares siguiendo las líneas de Blaschko son fuertemente indicativos de la presencia de mosaicismo.

Amalgam tattoo: a cause of sinusitis?

Little attention has been paid to the toxicity of silver amalgam fillings, which have been used over the centuries in Dentistry. Amalgam particles may accidentally and/or traumatically be embedded into the submucosal tissue during placement of a restoration and perpetuate in such area. This article presents a case of amalgam tattoo and investigates whether it is related to the patient's repeated episodes of sinusitis. The patient was a 46-year-old woman with a 2 mm diameter radiopaque lesion in the right oral mucosa detected on a panoramic radiograph and presented as a black macula clinically. A complete surgical resection was carried out. The histopathological examination revealed deposits of dark-brownish pigments lining the submucosal tissue with adjacent lymphocytic inflammatory infiltrate and multinucleated giant cells phagocyting pigments. There was a negative staining for both iron and melanin. One year after lesion removal, the patient reported that the sinusitis crises had ceased after repeated episodes for years. It may be speculated that the inflammatory process related to amalgam tattoo seems to lead to a local immune response that causes sinusitis because it enhances the human leukocyte antigen DR (HLA-DR) tissue expression.

Carney Complex with Multiple Intracranial Aneurysms

Carney complex is an autosomal dominant disease that displays such characteristic features as cardiac and cutaneous myxomas and spotty pigmentation of the skin. We report here on a case of Carney complex that was accompanied by increased myxoid fibroadenomas in the breast and multiple intracranial aneurysms.

Hypomelanosis of Ito with cerebral malformation.

Syndromic forms of cortical maldevelopment continue to be a curiosity. Hypomelanosis of Ito (HI) is the presence of whirled hypochromic skin lesions often associated with nondermatological manifestations. The polymorphism of brain abnormalities associated with HI is well known. We report three cases of Hypomelanosis of Ito, occuring in infants and associated with cerebral malformation.

Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria.

Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved and the palms, soles and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles and oral mucosa. To our knowledge, this is the first reported case of such an association.

Hypomelanosis of ito.

Four-year-old boy presented with hypopigmented skin lesions since birth and seizure of recent onset. He had psychomotor retardation and hemi hypertrophy of left half of body. Computerised tomography scan findings were suggestive of hemimegalencephaly. On clinical grounds, a diagnosis of Hypomelanosis of Ito was made.

Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians.

A rare occurrence of primary small intestinal lymphangiectasia in an 8-year-old girl with incontinentia pigmenti achromians is reported. In addition, she had right sided hemihypertrophy. Though intestinal lymphangiectasia is known to have a few syndromic associations, its co-existence in a child with incontinentia pigmenti achromians has not yet been reported in the literature. Hemihypertrophy is also extremely rare in the latter and only very few instances of an association between the two have been documented previously.

Incontinentia pigmentii acromians with seizure disorder: a case report.

Incontinentia pigmentii acromians (IPA) is a bizarre, irregularly shaped leukoderma of the trunk and extremities, characterized by marble cake-like whorls or streaks of hypopigmentation whose distribution can be unilateral or bilateral. Mode of inheritance is most consistent with an autosomal dominant type and in majority of the cases, one or more anomalies are present involving dermatological, dental and ocular disorders. A case of a female child, aged 2 1/2 yrs, referred from Pediatric neurology department, Medical College, Trivandrum with Incontinentia pigmentii acromians and seizure disorder is reported. Hamartomatous dental cusps and single maxillary central incisors have been associated with Incontinentia pigmentii acromians. A case of Incontinentia pigmentii acromians with hypoplastic teeth and tongue abnormalities is presented.

O espectro doença de Kitamura - doença de Dowling-Degos: revisao da literatura e apresentaçäo de dois casos / The spectrum Ktamura's disease - Dowling-Degos'disease: literature review and presentation of two cases

Os autores apresentam dois casos nos quais coexistem as características clínicas e histopatológicas das doenças de Dowling-Degos e Kitamura. Através da revisäo da literatura consideram pertinente a teoria na qual essas duas entidades säo consideradas componentes espectrais de uma variedade ampla de manifestaçöes cutâneas, que väo das máculas hiperpigmentadas às alteraçöes foliculares, tendo em comum o quadro histopatológico de acantose por alongamento dos cones epiteliais e acometimento do folículo pilossebáceo

Cronkhite-Canada syndrome with hypothyroidism.

An elderly man with non-familial gastrointestinal polyposis, malabsorption and progressive hypoproteinemia is reported. Associated alopecia, cutaneous hyperpigmentation and nail dystrophy with loss of nails were consistent with the diagnosis of Cronkhite-Canada syndrome. Hypothyroidism was present in this patient and the rare association of these two conditions is discussed.

Incontinencia pigmenti (Bloch-Sulzberger) asociada a Síndrome de Klippel Feil / Incontinentia pigmenti asociated with Klippel Feil Syndrome

Se presenta el caso de una I.P. asociada a S. de K.F. en una niña de 16 años. Se señalan todas las anomalías que tienen en común ambas entidades y la posibilidad de que algunos casos de la literatura tengan este tipo de asociación no detectado a causa de la corta edad de los pacientes que hace difícil la identificación del cuello corto o del pterigium colli característico del síndrome de K.F.