Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 35
Filtrar
2.
Rev. cuba. pediatr ; 952023. ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1515287

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/métodos
3.
Rev. Soc. Bras. Clín. Méd ; 18(4): 227-230, DEZ 2020.
Artigo em Português | LILACS | ID: biblio-1361636

RESUMO

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/sangue
4.
Ugeskr Laeger ; 182(17)2020 04 20.
Artigo em Dinamarquês | MEDLINE | ID: mdl-32400366

RESUMO

Ichthyosis ­ also called fish scale disease ­ is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals. Diagnosing IV can be challenging, because its clinical features are subject to great variation, ranging from mild cases with slight xerosis to severe cases with marked scaling and formation of fissures. In this review, IV and its most relevant differential diagnoses, X-linked ichthyosis, autosomal recessive congenital ichthyosis and acquired ichthyosis are reviewed.


Assuntos
Ictiose Vulgar , Humanos , Ictiose Vulgar/diagnóstico , Ictiose Vulgar/tratamento farmacológico
5.
Drug Metab Pers Ther ; 34(4)2019 12 18.
Artigo em Inglês | MEDLINE | ID: mdl-31967959

RESUMO

According to modern classification, there are two forms of inherited ichthyoses: syndromic and non-syndromic, each of them consists of more than ten different nosologies. The commonest types of the ichthyosis are X-linked recessive (prevalence 1/2000-6000 in men) and autosomal dominant, or ichthyosis vulgaris with incomplete penetrance (1/250-1000). The X-linked form is associated with mutations in steroid sulfatase STS gene, it is noteworthy that there is a full deletion of the gene in 90% of cases. Ichthyosis vulgaris is caused by heterozygous mutations in the FLG gene encoding filaggrin. It is important to note that the clinical forms of these diseases are indistinguishable. The aim of this study was to search for pathogenic or likely pathogenic mutations which are associated with various forms of the inherited ichthyosis such as other inherited diseases with similar phenotypic signs. The sequencing was done on a HiSeq 4000 sequencer (Illumina) by paired-end reading (2 × 150 bp). The identified mutation p.Arg2037Ter in the heterozygous condition has been described before in databases as being pathogenic. Also, our patient has a full deletion of the STS gene and it was found that our patient carries two pathogenic mutations which are related to different forms of the inherited ichthyosis.


Assuntos
Cromossomos Humanos X/genética , Genes Dominantes/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Ictiose Vulgar/genética , Adulto , Proteínas Filagrinas , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Testes Genéticos , Humanos , Ictiose Vulgar/diagnóstico , Masculino , Mutação
6.
J Dermatol ; 46(2): 158-160, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30549102

RESUMO

We report a 21-year-old man with recurrent bullous eruptions and severe itching on the lower legs and feet since 5 years of age. Dry, dirty brown, tile-like scales covered his lower legs with dystrophic toenails. Nodular prurigo-like lesions, scarring papules and milia remitted after the bullous eruptions. His father and another two family members had similar but mild presentations with recurrent bullae on the lower legs. Whole exome sequencing detected the heterozygous variants of COL7A1 c.6698G>A and FLG c.7249C>T in this pedigree. COL7A1 c.6698G>A was reported in bullous dermolysis of the newborn and FLG c.7249C>T was reported in ichthyosis vulgaris. Thus, the diagnosis of dystrophic epidermolysis bullosa pruriginosa associated with ichthyosis vulgaris was made.


Assuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Ictiose Vulgar/genética , Proteínas de Filamentos Intermediários/genética , Epidermólise Bolhosa Distrófica/complicações , Epidermólise Bolhosa Distrófica/diagnóstico , Proteínas Filagrinas , Humanos , Ictiose Vulgar/complicações , Ictiose Vulgar/diagnóstico , Masculino , Mutação Puntual , Sequenciamento do Exoma , Adulto Jovem
7.
J Dtsch Dermatol Ges ; 16(10): 1289-1295, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30300491

RESUMO

With an incidence of 1 in 700 births, Down syndrome (DS) is not an uncommon condition. It is associated with various disorders of different organ systems. Serious disorders include cardiac defects and leukemia. With an onset during the newborn period, the latter does not always progress to classic myeloid leukemia (transient myeloproliferative disorder). Skin manifestations in newborns include pustules/vesiculopustules. In individuals with DS, such lesions should not only prompt suspicion for typical neonatal rashes and infections but also for transient myeloproliferative disorder. However, most dermatoses are benign. They essentially comprise disorders of keratinization that present as xerosis, keratosis pilaris, lichenification, and ichthyosis vulgaris. Also typical but not specific is the four-finger palmar crease (simian crease). Patients frequently develop folliculitides, which - due to elastolysis - subsequently progress to anetoderma. The known immune disturbance in DS patients explains the occurrence of autoimmune diseases such as alopecia areata and vitiligo. Typical skin conditions associated with DS include elastosis perforans serpiginosa, syringomas, milia-like calcinosis cutis, and multiple eruptive dermatofibromas.


Assuntos
Síndrome de Down/diagnóstico , Fidelidade a Diretrizes , Dermatopatias/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Adolescente , Adulto , Anetodermia/diagnóstico , Anetodermia/epidemiologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/epidemiologia , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Doença de Darier/diagnóstico , Doença de Darier/epidemiologia , Síndrome de Down/epidemiologia , Exantema/diagnóstico , Exantema/epidemiologia , Sobrancelhas/anormalidades , Feminino , Alemanha , Humanos , Ictiose/diagnóstico , Ictiose/epidemiologia , Ictiose Vulgar/diagnóstico , Ictiose Vulgar/epidemiologia , Lactente , Recém-Nascido , Líquen Plano/diagnóstico , Líquen Plano/epidemiologia , Masculino , Transtornos Mieloproliferativos/diagnóstico , Transtornos Mieloproliferativos/epidemiologia , Dermatopatias/epidemiologia , Dermatopatias Infecciosas/diagnóstico , Dermatopatias Infecciosas/epidemiologia , Adulto Jovem
9.
Eur J Pediatr ; 177(6): 955-960, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29675643

RESUMO

Eyelash trichomegaly (ET) is increased length (≥ 12 mm), curling, pigmentation, or thickness of eyelashes. Among acquired causes, allergic diseases and atopic dermatitis (AD) have been found to be associated with eyelash trichomegaly especially in children; however, to date, this claim has not been studied in detail. To compare the eyelash lengths of AD and ichthyosis vulgaris (IV) patients with those of age- and sex-matched patients with unrelated skin disorders, we measured (with a digital Vernier caliper) and compared the eyelash lengths of AD (n = 58) and IV (n = 31) patients to those of age- and sex-matched patients with unrelated skin disorders (n = 178). The eyelashes of the AD and male IV patients were found to be significantly longer than those of the controls (p < 0.05). The severity of atopic dermatitis, i.e., SCORAD of > 50, hyperlinearity of palms and soles, and high IgE levels significantly correlated with the long eyelashes. The limitations of study are single-center study and filaggrin gene mutation in patients of IV could not be studied. CONCLUSION: Thus, long eyelashes may act as surrogate marker of severe AD and serve as a cutaneous marker of IV patients. What is Known: • Among acquired causes, allergic diseases and atopic dermatitis have been found to be associated with eyelash trichomegaly especially in children. What is New: • The severity of atopic dermatitis, i.e., SCORAD of > 50, hyperlinearity of palms and soles, and high IgE levels significantly correlate with the long eyelashes; thus, long eyelashes may act as surrogate marker of severe atopic dermatitis. • It may also serve as a cutaneous marker of ichthyosis vulgaris especially in male patients and patients with palmoplantar hyperlinearity.


Assuntos
Dermatite Atópica/diagnóstico , Pestanas/anormalidades , Ictiose Vulgar/diagnóstico , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Proteínas Filagrinas , Humanos , Lactente , Masculino , Índice de Gravidade de Doença
14.
Cutis ; 87(3): 148-54, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21488574

RESUMO

Dermoscopy is a noninvasive technique to assess skin architecture. A pilot study was conducted using polarized dermoscopy as a tool to monitor the pediatric skin barrier. Ten pediatric patients (age range, 1-14 years) with mild to moderate atopic dermatitis (AD), ichthyosis vulgaris (IV), and/or keratosis pilaris (KP) participated in a 4-week clinical trial. After a week of emollient usage alone, a mid-potency topical corticosteroid cream was added twice daily if necessary to treat erythema, dermatitis, or pruritus. The participants were assessed at weeks 0, 1, and 4 using the eczema area and severity index (EASI) for atopic dermatitis, investigator global assessment for atopic dermatitis, children dermatology life quality index (CDLQI), and clinical and dermoscopic photography. Dermoscopic appearance demonstrated dermal vascular ectasia in AD and KP, hyperkeratosis and prominence of the interkeratinocyte space in AD and IV and widening of the follicular orifice in KP. Improvements in these dermoscopic abnormalities were noted after emollient usage, mirroring improvements in clinical appearance, EASI, and CDLQI. Dermoscopy is a promising tool to assess localized improvement in skin architecture in pediatric dermatoses. Further studies and development of scoring systems will be needed to apply this technology to clinical practice.


Assuntos
Dermatite Atópica/diagnóstico , Dermoscopia/métodos , Ictiose Vulgar/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/tratamento farmacológico , Anormalidades Múltiplas/patologia , Administração Cutânea , Adolescente , Criança , Pré-Escolar , Doença de Darier , Dermatite Atópica/tratamento farmacológico , Dermatite Atópica/patologia , Sobrancelhas/anormalidades , Sobrancelhas/patologia , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Humanos , Ictiose Vulgar/tratamento farmacológico , Ictiose Vulgar/patologia , Lactente , Ceratose/diagnóstico , Ceratose/tratamento farmacológico , Ceratose/patologia , Masculino , Projetos Piloto , Índice de Gravidade de Doença , Resultado do Tratamento
15.
Acta Dermatovenerol Croat ; 17(2): 127-30, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19595270

RESUMO

A case of unrecognized widespread dermatophyte infection associated with ichthyosis vulgaris and atopy is described. Our patient was a young woman in which the diagnosis of ichthyosis vulgaris and atopic dermatitis blocked the recognition of widespread dermatophyte infection for more than six months. The case showed some clinical peculiarities in terms of both extent of lesions and their clinical appearance.


Assuntos
Dermatite Atópica/microbiologia , Ictiose Vulgar/microbiologia , Tinha/microbiologia , Trichophyton/isolamento & purificação , Adulto , Dermatite Atópica/diagnóstico , Dermatite Atópica/tratamento farmacológico , Diagnóstico Diferencial , Feminino , Humanos , Ictiose Vulgar/diagnóstico , Ictiose Vulgar/tratamento farmacológico , Tinha/diagnóstico , Tinha/tratamento farmacológico
16.
J Am Acad Dermatol ; 59(1): 72-8, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18455261

RESUMO

BACKGROUND: Recent genetic studies have demonstrated that filaggrin mutations, shown to underlie ichthyosis vulgaris (IV), may also predispose patients with atopic dermatitis to allergic respiratory disease. OBJECTIVE: Our objective was to determine whether the clinical presence of IV influences the severity and age at onset of atopic dermatitis or the probability of having allergic respiratory disease. METHODS: We reviewed data collected from the initial visits of 1187 patients with atopic dermatitis. RESULTS: Asthma symptoms were more common in atopic dermatitis patients with IV than in those without (39.9% vs 32.9%, odds ratio [OR] = 1.35, P = .050) and were most associated with severe IV (OR = 2.52, P = .002). This relationship remained after controlling for the baseline severity of atopic dermatitis. Clinical IV was also associated with symptoms of allergic rhinoconjunctivitis, earlier onset of atopic dermatitis, severity of atopic dermatitis, hyperlinear palms, and keratosis pilaris. LIMITATIONS: Our limitations include subjective grading, few data points in some groups, and an inability to demonstrate causality. CONCLUSION: These results suggest that clinical evidence of IV, irrespective of filaggrin genotype, serves as a potential marker for those patients with atopic dermatitis who develop allergic respiratory disease and a more severe skin phenotype.


Assuntos
Dermatite Atópica/epidemiologia , Ictiose Vulgar/epidemiologia , Hipersensibilidade Respiratória/epidemiologia , Adolescente , Idade de Início , Asma/epidemiologia , Criança , Pré-Escolar , Comorbidade , Conjuntivite Alérgica/epidemiologia , Estudos Transversais , Dermatite Atópica/diagnóstico , Proteínas Filagrinas , Humanos , Ictiose Vulgar/diagnóstico , Lactente , Ceratodermia Palmar e Plantar/epidemiologia , Prevalência , Prognóstico , Hipersensibilidade Respiratória/diagnóstico , Rinite Alérgica Sazonal/epidemiologia , Estados Unidos/epidemiologia
19.
Saudi Med J ; 25(8): 1097-9, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15322605

RESUMO

OBJECTIVE: The aim of this study is to find out the association of atopic dermatitis and other atopic features with primary hereditary ichthyosis (PHI) among Saudi patients in King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia. METHODS: From the out-patient Department of Dermatology logbooks, all Saudi patients with clinically and histopathologically confirmed PHI seen between January 1990 and December 1995 were included in this study. Clinical findings regarding the atopic manifestations of PHI were extracted into data collection forms and computer-analyzed, using Statistical Package for Social Sciences. RESULTS: Over a 6-year study period, 10,455 new patients were seen in our Dermatology Clinics. Of these, 61 had PHI, there were 37 males and 24 females with a ratio of 1.5:1. Atopic dermatitis (AD), diagnosed according to Hanifin and Rajka criteria, was found in 7 (11.5%) patients of PHI; 5 of which were ichthyosis vulgaris and 2 with x-linked recessive ichthyosis. Isolated features of atopy were observed in the form of pruritus 49 (80%), elevated immunoglobulin E 27 (44.3%), dandruff 24 (39%), keratosis pilaris (KP) 15 (25%) and asthma 3 (5%). CONCLUSION: In the present study, there was an 11.5% association between AD and PHI. However, isolated features of atopy were found in PHI in variable proportions ranging from 5-80%.


Assuntos
Dermatite Atópica/epidemiologia , Ictiose/epidemiologia , Ictiose/genética , Distribuição por Idade , Estudos de Coortes , Comorbidade , Dermatite Atópica/diagnóstico , Feminino , Humanos , Ictiose/diagnóstico , Ictiose Vulgar/diagnóstico , Ictiose Vulgar/epidemiologia , Ictiose Ligada ao Cromossomo X/diagnóstico , Ictiose Ligada ao Cromossomo X/epidemiologia , Incidência , Masculino , Estudos Retrospectivos , Medição de Risco , Arábia Saudita/epidemiologia , Índice de Gravidade de Doença , Distribuição por Sexo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...