RESUMO
Introducción: La ictiosis vulgar y el síndrome de Ehlers Danlos tipo clásico integran dos genodermatosis que presentan en común un patrón de herencia autosómico dominante, pero muestran manifestaciones clínicas variadas. Es infrecuente encontrar concomitancia de ambas dermatosis en un mismo paciente, y cuando ocurre la heterogeneidad clínica hace complejo el diagnóstico. Objetivo: Exponer un caso que presentó ictiosis vulgar asociada con el síndrome de Ehlers Danlos tipo clásico, en el que el análisis del árbol genealógico contribuyó a orientar el diagnóstico. Presentación del caso: Paciente femenina de 10 años de edad, atendida en la consulta especializada de genodermatosis en Las Tunas. Presentaba, desde edades tempranas, lesiones escamosas localizadas en las piernas y brazos, y que empeoraban durante el invierno. Desde los nueve años comenzó a mostrar luxaciones frecuentes de hombro derecho e hiperextensibilidad de la piel. Constaban antecedentes familiares de piel escamosa en miembros de la familia materna e hipermovilidad articular en varios miembros de la familia paterna: El árbol genealógico contribuyó a orientar el diagnóstico y a realizar la atención médica adecuada. Conclusiones: Se trató un caso interesante porque resulta infrecuente encontrar en un mismo paciente dos enfermedades genéticas, lo cual implicó dificultades en el momento de confirmar el diagnóstico, así como su atención. A este diagnóstico, en el caso de ambas genodermatosis, contribuyó el análisis del árbol genealógico familiar, herramienta fundamental en la determinación de enfermedades genéticas(AU)
Introduction: Ichthyosis vulgaris and Ehlers Danlos syndrome classic type comprise two genodermatoses that share an autosomal dominant pattern of inheritance, but show varied clinical manifestations. It is rare to find concomitance of both dermatoses in the same patient, and when this occurs the clinical heterogeneity makes the diagnosis complex. Objective: To present a case of ichthyosis vulgaris associated with classic Ehlers Danlos syndrome, in which analysis of the family tree helped to guide the diagnosis. Case presentation: 10-year-old female patient seen at the specialised genodermatosis clinic in Las Tunas. She presented, from an early age, with scaly lesions located on the legs and arms, which worsened during the winter. From the age of nine he began to show frequent dislocations of the right shoulder and hyperextensibility of the skin. There was a family history of scaly skin in members of the maternal family and joint hypermobility in several members of the paternal family: the family tree helped to guide the diagnosis and appropriate medical care. Conclusions: This was an interesting case because it is rare to find two genetic diseases in the same patient, which implied difficulties at the time of confirming the diagnosis, as well as its care. The analysis of the family tree, a fundamental tool in the determination of genetic diseases, contributed to this diagnosis in the case of both genodermatoses(AU)
Assuntos
Humanos , Feminino , Criança , Pele/lesões , Dermatopatias/genética , Ictiose Vulgar/diagnóstico , Ictiose/classificação , Luxação do Ombro , Anamnese/métodosRESUMO
INTRODUCTION: INTRODUCTION Genodermatoses are a group of genetic diseases that affect the skin and adjoining tissues. They represent 15% of genetic diseases worldwide. Cuba established a National Program for the Diagnosis, Care and Prevention of Genetic Diseases and Congenital Abnormalities in 1980, which was implemented in Las Tunas in 1989. In 2010, a specialized multidisciplinary provincial service for genodermatoses patients was established in Las Tunas province. Several studies in Las Tunas show that genodermatoses represent 22.2% of genetic diseases; the most common are ichthyosis (16.7%), mastocytosis (11.7%), and neurofibromatosis (8.3%). Children aged <12 years are the most affected (61.6%). OBJECTIVE: Describe genodermatoses in Las Tunas Province, Cuba, since the implementation of the National Program for the Diagnosis, Care, and Prevention of Genetic Diseases and Congenital Abnormalities, and after the creation of a specialized multidisciplinary provincial service for genodermatoses patients. METHODS: We conducted an observational, descriptive, retrospective study in 249 patients diagnosed with some type of genodermatosis who received care in Las Tunas during 1989-2019. Variables considered were: type of genodermatosis, complications, deaths and geographic location by municipality. We studied prevalence rates (1989-2019), incidence rates (2010-2019), proportion of complications, survival rates, and types of genodermatosis diagnosed by municipality in two periods (1989-2009 and 2010-2019) one before, and one after the implementation of a targeted multidisciplinary provincial care service. RESULTS: The general prevalence rate of genodermatoses in Las Tunas Province was 46.51 per 100,000 population. The forms with the highest prevalence rates were neurofibromatosis type 1 (13.6 per 100,000 population), classical Ehlers-Danlos syndrome (7.1 per 100,000), ichthyosis vulgaris (5.0 per 100,000) and cutaneous mastocytosis (2.4 per 100,000). The highest incidence rates coincided with the conditions with the highest prevalence: neurofibromatosis type 1 (81.5 per 1000 cases in 2013), classical Ehlers-Danlos syndrome (44.4 per 1000 cases in 2013) and ichthyosis vulgaris (52 per 1000 cases in 2010). From 1989-2009, patients presented a greater frequency of complications, at 40% (22/55) than from 2010-2019 at 21.1% (41/194). Pyodermitis was the most common during the study period (1989-2019), with 29.1% (16/55). Survival was high, at 98.0% (only 5 deaths in 2009, 2010, 2011, 2012, and 2015, and were no deaths during other years) in the study period. The greatest share of genodermatosis cases was registered in the municipality of Majibacoa (0.07%), and consanguinity was found in cases of epidermolysis bullosa, Herlitz type and xeroderma pigmentosum. CONCLUSION: In Las Tunas Province, Cuba, genodermatoses as a whole are not rare diseases. Those with the highest prevalence and incidence rates are neurofibromatosis type 1, classical Ehlers-Danlos syndrome and ichthyosis vulgaris. After implementation of the specialized multidisciplinary provincial service for genodermatoses patients within Cuba's National Program for the Diagnosis, Care, and Prevention of Genetic Diseases and Congenital Abnormalities, in addition to the active screening implemented by this Program, more cases were diagnosed, and a lower proportion of complications and a higher survival rates were recorded.
Assuntos
Dermatopatias/epidemiologia , Dermatopatias/genética , Cuba/epidemiologia , Síndrome de Ehlers-Danlos , Humanos , Ictiose Vulgar , Mastocitose Cutânea , Neurofibromatose 1 , Estudos RetrospectivosRESUMO
A ansa pancreática é uma variação anatômica rara dos ductos pancreáticos. Consiste numa comunicação entre o ducto pancreático principal (Wirsung) e o ducto pancreático acessório (Santorini). Recentemente, estudos têm demonstrado estar essa variação anatômica implicada como fator predisponente e significativamente associada a episódios recorrentes de pancreatite aguda. A pancreatite é uma entidade clínica pouco frequente na infância. Diferente dos adultos, as causas mais comuns incluem infecções virais, por ascaris, medicamentosas, traumas e anomalias estruturais. O objetivo deste estudo foi relatar um caso de pancreatite aguda grave não alcoólica e não biliar, em um paciente jovem de 15 anos, em cuja propedêutica imagenológica evidenciou-se alça, comunicando com os ductos pancreáticos ventral e dorsal, compatível com ansa pancreática.
Ansa pancreatica is a rare anatomical variation of the pancreatic ducts. It consists of communication between the main pancreatic duct (Wirsung) and the accessory pancreatic duct (Santorini). Recently, studies have shown that this anatomical variation is implicated as a predisposing factor and significantly associated with recurrent episodes of acute pancreatitis. Pancreatitis is a rare clinical entity in childhood. Different from that in the adults, the most common causes include viral and ascaris infections, drugs, traumas, and structural abnormalities. The objective of this study was to report a case of a severe non-alcoholic and non-biliary acute pancreatitis in a 15-year-old patient, whose propedeutic imaging showed a loop communicating with the ventral and dorsal pancreatic ducts, consistent with ansa pancreatica.
Assuntos
Humanos , Masculino , Adolescente , Ductos Pancreáticos/anormalidades , Ductos Pancreáticos/diagnóstico por imagem , Pancreatite/etiologia , Pancreatite/diagnóstico por imagem , Pseudocisto Pancreático/diagnóstico por imagem , Pancreatite/complicações , Pancreatite/sangue , Proteína C-Reativa/análise , Espectroscopia de Ressonância Magnética , Tomografia Computadorizada por Raios X , Ictiose Vulgar/diagnóstico , Ultrassonografia , Ductos Biliares Extra-Hepáticos/patologia , Pancreatite Necrosante Aguda/etiologia , Pancreatite Necrosante Aguda/diagnóstico por imagem , Amilases/sangue , Lipase/sangueRESUMO
X-linked ichthyosis is an inherited disorder due to steroid sulfatase deficiency. It is clinically characterized by dark, adhesive, and regular scales of the skin. Most X-linked ichthyosis patients present large deletions of the STS gene and flanking markers; a minority show a point mutation or partial deletion of the STS gene. In this study we analyzed the STS gene in a family with simultaneous occurrence of X-linked ichthyosis and ichthyosis vulgaris. X-linked ichthyosis diagnosis was confirmed through steroid sulfatase assay in leukocytes using 7-[3H]-dehydroepiandrosterone sulfate as a substrate. Exons 1, 2, 5, and 6-10, and the 5' flanking markers DXS1130, DXS1139, and DXS996 of the STS gene were analyzed by polymerase chain reaction. X-linked ichthyosis patients of the family (n = 4 males) had undetectable levels of STS activity (0.00 pmol per mg protein per h). The DNA analysis showed that only exons 6-10 and the 5' flanking markers of the STS gene were present. We report the first partial deletion of the STS gene spanning exons 1-5 in X-linked ichthyosis patients.
Assuntos
Arilsulfatases/genética , Éxons/genética , Deleção de Genes , Ictiose Ligada ao Cromossomo X/genética , Humanos , Ictiose Vulgar/complicações , Ictiose Ligada ao Cromossomo X/complicações , Masculino , Esteril-SulfataseRESUMO
Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder causing erythrokeratoderma, vascularizing keratitis, and neurosensory deafness. Ichthyosis hystrix is a rare cutaneous disease characterized by well-demarcated, spiky, verrucous, linear plaques that is believed to be a clinical and pathologic chimera of two autosomal dominant diseases: epidermal nevus and epidermolytic hyperkeratosis. We present a patient with the classic triad of KID syndrome with clinical and histologic features of ichthyosis hystrix. This case demonstrates that KID syndrome comprises a spectrum of ectodermal disorders which may include diseases such as hystrix ichthyosis and deafness (HID) syndrome.
Assuntos
Surdez , Ictiose Vulgar/diagnóstico , Ceratite/diagnóstico , Argentina , Biópsia por Agulha , Criança , Humanos , Ictiose Vulgar/patologia , Masculino , Prognóstico , SíndromeAssuntos
Ictiose Vulgar/genética , Ictiose Ligada ao Cromossomo X/genética , Arilsulfatases/genética , Arilsulfatases/metabolismo , Diagnóstico Diferencial , Feminino , Humanos , Ictiose Vulgar/diagnóstico , Ictiose Vulgar/epidemiologia , Ictiose Ligada ao Cromossomo X/diagnóstico , Ictiose Ligada ao Cromossomo X/epidemiologia , Masculino , México/epidemiologia , Reação em Cadeia da Polimerase , Prevalência , Esteril-SulfataseRESUMO
La ictiosis ligada al X es una genodermatosis causada por la deficiencia de la sulfatasa esteroidea. Tiene una frecuencia de 1 por 2,000-6,000 recién nacidos vivos masculinos. Se inicia al nacimiento y se caracteriza por presentar escamas oscuras, adherentes, regulares con predominio en tronco y estremidades. El diagnóstico diferencial se realiza con la ictiosis vulgar, que tienen una frecuencia de 1 por 250 recién nacidos vivos. La determinación de la sulfatasa esteroidea clasifica a pacientes y portadoras con ictiosis ligada al X. El objetivo del presente trabajo fue establecer el diagnóstico correcto de pacientes y detección de portadoras en 10 familias con ictiosis ligada al X, amplificando mediante reacción en cadena de la polimerasa los extremos 5' y 3' del gen de la sulfatasa esteroidea y determinando la actividad de esta enzima en leucocitos utilizando el sulfato de 7-[3H]-dehidroepiandrosterona como substrato. Ningún paciente amplificó los extremos 5' y 3' del gen de la sulfatasa esteroidea, indicando la pérdida del gen en todos los casos. La determinación de la actividad de la sulfatasa esteroidea clasificó adecuadamente a pacientes (0.0 pmol/mg proteína/h) y portadoras (0.20 ñ 0.06 pmol/mg proteína/h versus 0.84 ñ 0.10 de controles sanos y pacientes con ictiosis vulgar) de ictiosis ligada al X. De esta manera, se establece la necesidad de realizar el ensayo de la sulfatasa esteroidea para el diagnóstico correcto de ictiosis ligada al X y para diferenciarla de la ictiosis vulgar e identificar a posibles portadoras de ictiosis ligada al X
Assuntos
Humanos , Masculino , Feminino , Sulfatases/análise , Sulfatos/análise , Cromossomo X/genética , Reação em Cadeia da Polimerase , Ictiose Vulgar/diagnóstico , Contagem de Leucócitos , Triagem de Portadores Genéticos/métodos , Diagnóstico DiferencialRESUMO
Nas ictioses recessivas ligadas ao x (IRLX) ocorre deficiência ou ausência de atividade da enzima colesterol-sulfatase (arilsulfatase C). A descamaçäo da camada córnea é retardada, determinando quadro clínico característico. Com base em um caso clínico de IRLX, säo discutidos os aspectos clínicos, bioquímicos e genéticos dessa forma de ictiose
Assuntos
Humanos , Pré-Escolar , Adolescente , Masculino , Arilsulfatases , Fibroblastos/metabolismo , Ictiose Ligada ao Cromossomo X/diagnóstico , Aconselhamento Genético , Ictiose Vulgar , Ictiose Ligada ao Cromossomo X/enzimologia , Ictiose Ligada ao Cromossomo X/genéticaAssuntos
Criança , Adolescente , Dermatite Alérgica de Contato , Dermatite Atópica , Dermatite Irritante , Dermatite Seborreica , Dermatite das Fraldas , Dermatite de Contato , Dermatologia , Glândulas Sebáceas/anormalidades , Líquen Plano , Pele/anatomia & histologia , Carcinoma Basocelular , Ceratodermia Palmar e Plantar , Ceratose , Cútis Laxa , Dermatopatias Papuloescamosas , Dermatopatias/genética , Doença de Darier , Epiderme/anormalidades , Hipersensibilidade , Ictiose Vulgar , Melanoma , Melanose , Neoplasias/etiologia , Pitiríase Liquenoide , Pitiríase Rubra Pilar , Pitiríase Rósea , Pseudoxantoma Elástico , Psoríase , Urticária , VasculiteRESUMO
No periodo de janeiro de 1980 a maio de 1988, dezoito casos de distrofia vulvar foram atendidos no Servico de Ginecologia e Obstetricia da Universidade Federal de Uberlandia. Os autores realizaram uma revisao da literatura internacional a respeito da etiopatogenese, sintomatologia e aspectos epidemiologicos, tais como: idade, paridade e raca, comparando estes dados com os encontrados em nosso servico