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1.
J Pediatr Gastroenterol Nutr ; 71(2): 153-155, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32452979

RESUMO

Coronavirus disease 2019 (COVID-19) may lead to a severe inflammatory response referred to as a cytokine storm. We describe a case of severe COVID-19 infection in a recently diagnosed pediatric Crohn disease patient successfully treated with tumor necrosis factor-alpha (TNF-α) blockade. The patient presented with 5 days of fever, an erythematous maculopapular facial rash, and abdominal pain without respiratory symptoms. SARS-CoV-2 polymerase chain reaction was positive. Despite inpatient treatment for COVID-19 and a perianal abscess, the patient acutely decompensated, with worsening fever, tachycardia, fluid-refractory hypotension, elevation of liver enzymes, and transformation of the rash into purpura extending from the face to the trunk, upper and lower extremities, including the palmar and plantar surfaces of the hands and feet. Cytokine profile revealed rising levels of interleukin (IL)-6, IL-8, and TNF-α, higher than those described in either inflammatory bowel disease or severe COVID-19 alone. The patient was treated with infliximab for TNF-α blockade to address both moderately to severely active Crohn disease and multisystem inflammatory syndrome in children temporally related to COVID-19. Within hours of infliximab treatment, fever, tachycardia, and hypotension resolved. Cytokine profile improved with normalization of TNF-α, a decrease in IL-6, and IL-8 concentrations. This case supports a role for blockade of TNF-α in the treatment of COVID-19 inflammatory cascade. The role of anti-TNF agents in patients with multisystem inflammatory syndrome in children temporally related to COVID-19 requires further investigation.


Assuntos
Infecções por Coronavirus/tratamento farmacológico , Doença de Crohn/complicações , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Eritrodermia Ictiosiforme Congênita/complicações , Infliximab/uso terapêutico , Interleucina-6/sangue , Interleucina-8/sangue , Deformidades Congênitas dos Membros/complicações , Pneumonia Viral/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Anormalidades Múltiplas , Adolescente , Antirreumáticos/uso terapêutico , Betacoronavirus , Infecções por Coronavirus/complicações , Infecções por Coronavirus/virologia , Humanos , Masculino , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/virologia , Fator de Necrose Tumoral alfa/sangue
2.
Indian J Pharmacol ; 51(5): 343-345, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31831924

RESUMO

Congenital ichthyosiform erythroderma is a rare and severe form of ichthyosis manifesting in the neonatal age group. We report a child with diffuse peeling of skin and erythroderma presenting on the 2nd day of birth. With aseptic nursing care along with emollients and oral acitretin, the child's quality of life improved remarkably, hence highlighting the point of early and judicious use of acitretin in reducing disease morbidity.


Assuntos
Acitretina/administração & dosagem , Eritrodermia Ictiosiforme Congênita/tratamento farmacológico , Qualidade de Vida , Emolientes/administração & dosagem , Humanos , Eritrodermia Ictiosiforme Congênita/patologia , Recém-Nascido , Ceratolíticos/administração & dosagem , Masculino
3.
Lipids Health Dis ; 18(1): 232, 2019 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-31883530

RESUMO

BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. METHODS: Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. RESULTS: Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. CONCLUSIONS: These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.


Assuntos
1-Acilglicerol-3-Fosfato O-Aciltransferase/genética , Eritrodermia Ictiosiforme Congênita/diagnóstico , Ictiose Lamelar/diagnóstico , Erros Inatos do Metabolismo Lipídico/diagnóstico , Doenças Musculares/diagnóstico , Pitiríase Rubra Pilar/diagnóstico , Adulto , Erros de Diagnóstico , Predisposição Genética para Doença , Humanos , Eritrodermia Ictiosiforme Congênita/genética , Eritrodermia Ictiosiforme Congênita/patologia , Ictiose Lamelar/genética , Ictiose Lamelar/patologia , Gotículas Lipídicas/metabolismo , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/patologia , Lipídeos/genética , Masculino , Doenças Musculares/genética , Doenças Musculares/patologia , Mutação de Sentido Incorreto , Pitiríase Rubra Pilar/genética , Pitiríase Rubra Pilar/patologia , Dobramento de Proteína
4.
An Bras Dermatol ; 94(3): 341-343, 2019 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-31365666

RESUMO

CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed.


Assuntos
Anormalidades Múltiplas/tratamento farmacológico , Anticolesterolemiantes/administração & dosagem , Colesterol/metabolismo , Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico , Eritrodermia Ictiosiforme Congênita/tratamento farmacológico , Deformidades Congênitas dos Membros/tratamento farmacológico , Lovastatina/administração & dosagem , Anormalidades Múltiplas/genética , Administração Tópica , Colesterol/biossíntese , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Eritrodermia Ictiosiforme Congênita/genética , Lactente , Deformidades Congênitas dos Membros/genética , Doenças Metabólicas/genética
6.
J Pediatr Endocrinol Metab ; 32(8): 911-914, 2019 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-31256066

RESUMO

Nonbullous congenital ichthyosis erythroderma (CIE) is an autosomal recessive disorder of ineffective keratinization. We present a unique case of a 16-year-old female with CIE who developed Cushing disease (CD) at age 13 with concomitant worsening of her skin disease. After transsphenoidal resection of her pituitary adenoma, she had both resolution of her Cushing symptoms and significantly milder skin manifestations of her CIE. To the best of our knowledge, this is the first reported case of a patient with both CD and CIE, one that is important in demonstrating the role of glucocorticoids in this disorder.


Assuntos
Glucocorticoides/farmacologia , Eritrodermia Ictiosiforme Congênita/prevenção & controle , Hipersecreção Hipofisária de ACTH/prevenção & controle , Adolescente , Feminino , Humanos , Hidrocortisona/sangue , Eritrodermia Ictiosiforme Congênita/complicações , Eritrodermia Ictiosiforme Congênita/tratamento farmacológico , Hipersecreção Hipofisária de ACTH/complicações , Hipersecreção Hipofisária de ACTH/tratamento farmacológico , Prognóstico , Suspensão de Tratamento
7.
Orphanet J Rare Dis ; 14(1): 112, 2019 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-31118107

RESUMO

BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients. RESULTS: We report for the first time thyroid function impairment in CDS. Among 12 investigated patients, 7 showed thyroid function impairment. All of them were over 30 of age. The 5 remaining investigated patients with normal thyroid function were under 30. Thyroid loss of function is an unknown clinical feature of CDS that could gradually develop with age. Thyroid ultrasound showed an abnormal aspect in all investigated patients (6 with thyroid impairment and 3 with normal thyroid function). Cervical MRI done in 2 patients with thyroid impairment showed fat infiltration of thyroid parenchyma. Audiogram carried out in 8 of our patients showed sensorineural hearing impairment in all patients, although only 2 patients suffered from clinical hypoacusia. We also demonstrated that kidney could be a more commonly involved organ than previously reported in the literature. A poorly differentiated kidney parenchyma is a common feature in our series. One patient showed cerebellar atrophy and T2 hypersignal of brain's white matter in MRI. All patients carried the same founder mutation c.773(- 1)G > A in the ABDH5 gene. DISCUSSION: Aside from the congenital ichthyosiform erythroderma, the most common symptom of CDS, in addition to other organs involvement frequently reported in the literature, we described thyroid dysfunction, an unreported feature, probably related to the lipid infiltration of the thyroid parenchyma. The association found between age and hypothyroidism in CDS patients could explain the gradually development of thyroid disease with age. CONCLUSION: We reported a thyroid dysfunction and unreported ultrasonographic aspects of kidneys and cerebral MRI in CDS patients. METHODS: We performed clinical analyses in 15 patients in whom thyroid, liver, ocular, kidney, skeletal muscle and neurological involvement were explored. Genetic and molecular explorations were performed by direct sequence analysis. Software SPSS, Fisher's exact test and ANOVA were used for statistical analyses.


Assuntos
1-Acilglicerol-3-Fosfato O-Aciltransferase/genética , Eritrodermia Ictiosiforme Congênita/metabolismo , Eritrodermia Ictiosiforme Congênita/fisiopatologia , Erros Inatos do Metabolismo Lipídico/metabolismo , Erros Inatos do Metabolismo Lipídico/fisiopatologia , Doenças Musculares/metabolismo , Doenças Musculares/fisiopatologia , Glândula Tireoide/metabolismo , Glândula Tireoide/fisiopatologia , Adulto , Éxons/genética , Feminino , Homozigoto , Humanos , Íntrons/genética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/metabolismo , Músculo Esquelético/fisiopatologia , Mutação/genética , Estudos Retrospectivos
8.
Artigo em Inglês | MEDLINE | ID: mdl-31078502

RESUMO

OBJECTIVE: The aim of this study was to perform a systematic analysis of the nicotinamide adenine dinucleotide phosphate (NAD[P])-dependent steroid dehydrogenase-like (NSDHL) gene in cases of oral verruciform xanthoma (VX) and to test for the presence of mutations associated with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome. STUDY DESIGN: DNA was extracted from archived paraffin-embedded tissue of oral VX and control cases. Polymerase chain reaction (PCR) was then used to screen exons 4 and 6 of the NSDHL gene for the presence of 4 known germline mutations associated with CHILD syndrome and 1 somatic mutation previously identified in VX lesions with no known association with CHILD syndrome. RESULTS: Of the 16 oral VX tissue samples, 8 (50%) had known missense mutations associated with CHILD syndrome. Furthermore, 2 of these 8 tissue samples also had an additional missense mutation previously identified in cutaneous VX lesions. No mutations of exons 4 and 6 were found in the 5 negative control tissue samples. CONCLUSIONS: NSDHL gene mutations associated with CHILD syndrome are common in sporadic oral VX cases, suggesting that these mutations confer a greater risk for the development of epithelial barrier defects that promote recurrent oral VX lesions and the potential for direct germline transmission of oral VX susceptibility.


Assuntos
3-Hidroxiesteroide Desidrogenases/genética , Anormalidades Múltiplas/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Eritrodermia Ictiosiforme Congênita/genética , Deformidades Congênitas dos Membros/genética , Nevo , Neoplasias Cutâneas , Xantomatose , Humanos , Mutação , Xantomatose/genética
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(4): 357-359, 2019 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-30950025

RESUMO

OBJECTIVE: To explore the genetic cause for a child with congenital ichthyosis. METHODS: The child was subjected to next generation sequencing using a specific gene panel. Suspected mutation was validated by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous mutations c.327delG (p.Met109Ilefs*2) and c.791G>A (p.Arg264Gln) of the TGM1 gene, which were respectively inherited from his mother and father. The same mutations were not found among 101 healthy controls. c.327delG was not reported previously. By bioinformatic analysis, both mutations are likely to impair the function of TGase-1 protein. CONCLUSION: The compound heterozygous mutations of c.327delG and c.791G> A of the TGM1 gene probably underlie the ichthyosis in the proband. The result has facilitated prenatal diagnosis for this pedigree.


Assuntos
Eritrodermia Ictiosiforme Congênita , Transglutaminases/genética , Feminino , Humanos , Eritrodermia Ictiosiforme Congênita/genética , Recém-Nascido , Mutação , Linhagem , Fenótipo , Gravidez
11.
Dermatol Clin ; 37(2): 229-239, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30850045

RESUMO

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care.


Assuntos
Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/terapia , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/terapia , Síndrome do Nevo Basocelular/diagnóstico , Síndrome do Nevo Basocelular/genética , Síndrome do Nevo Basocelular/terapia , Classe I de Fosfatidilinositol 3-Quinases/antagonistas & inibidores , Dermabrasão , Fármacos Dermatológicos/uso terapêutico , Testes Genéticos , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/terapia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/genética , Eritrodermia Ictiosiforme Congênita/terapia , Inibidores de Janus Quinases/uso terapêutico , Terapia a Laser , Lipoma/diagnóstico , Lipoma/genética , Lipoma/terapia , Técnicas de Diagnóstico Molecular , Mosaicismo , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/terapia , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/terapia , Nevo/diagnóstico , Nevo/genética , Nevo/terapia , Pitiríase Rubra Pilar/diagnóstico , Pitiríase Rubra Pilar/genética , Pitiríase Rubra Pilar/terapia , Inibidores de Proteínas Quinases/uso terapêutico , Síndrome de Proteu/diagnóstico , Síndrome de Proteu/genética , Síndrome de Proteu/terapia , Proteínas Proto-Oncogênicas c-akt/antagonistas & inibidores , Análise de Sequência de DNA , Dermatopatias Genéticas/genética , Protetores Solares/uso terapêutico , Serina-Treonina Quinases TOR/antagonistas & inibidores , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia , Ustekinumab/uso terapêutico
12.
J Dermatol ; 46(5): 422-425, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30809829

RESUMO

A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Mutation analysis of exon 13 of the p63 gene revealed a missense mutation Ile482Thr (c.1445T>C) in the sterile alpha motive domain. In this work we review the clinical features, differential diagnosis and prognosis in AEC syndrome.


Assuntos
Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Erros de Diagnóstico , Displasia Ectodérmica/diagnóstico , Epidermólise Bolhosa/diagnóstico , Anormalidades do Olho/diagnóstico , Pálpebras/anormalidades , Eritrodermia Ictiosiforme Congênita/diagnóstico , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética , Biópsia , Fenda Labial/genética , Fenda Labial/patologia , Fenda Labial/terapia , Fissura Palatina/genética , Fissura Palatina/patologia , Fissura Palatina/terapia , Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Displasia Ectodérmica/terapia , Epidermólise Bolhosa/patologia , Anormalidades do Olho/genética , Anormalidades do Olho/patologia , Anormalidades do Olho/terapia , Pálpebras/patologia , Feminino , Testes Genéticos , Heterozigoto , Humanos , Eritrodermia Ictiosiforme Congênita/patologia , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Mutação de Sentido Incorreto , Pele/patologia
13.
Vet Med Sci ; 5(2): 112-117, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30741495

RESUMO

Ichthyoses represent a heterogeneous group of hereditary cornification disorders characterized by generalized scaling of the skin. An autosomal recessive congenital ichthyosis (ARCI) has been described in American Bulldogs and is caused by a variant in the NIPAL4 gene encoding for the ICHTHYIN protein. So far, this variant has not been described in other breeds. A 1.5-year-old female pedigreed American Bully was referred for generalized scaling and bad coat quality since adoption at 8 weeks of age. Clinical examination, cytological and histopathological examination, and DNA testing were performed. Clinical examination revealed a generalized scaling; cytological evaluation using impression with acetate tapes showed a secondary Malassezia dermatitis. Histopathological examination revealed a moderate to marked, diffuse, compact orthokeratotic hyperkeratosis with the formation of large scales. Few Malassezia were observed in the stratum corneum associated with minimal mixed perivascular inflammation and moderate epidermal hyperplasia. DNA testing of the dog revealed that he carries two defective alleles of the NIPAL4 gene previously described in the American Bulldog. We performed a commercially available breed detection test which, although not specifically testing for "American Bully" signatures, revealed a high probability of American Bulldog DNA signature within the past three generations. Topical treatment using a combination of keratolytic and keratomodulator shampoo, emollient and moisturizers spray and antimicrobial wipes achieved a marked clinical improvement after only 1 month. Continuous topical treatment was necessary to maintain clinical improvement. To the authors' knowledge, this is the first description of the deleterious NIPAL4 variant in an American Bully as well as the first description of clinical management and follow-up of ARCI in this breed.


Assuntos
Sequência de Bases , Doenças do Cão/genética , Eritrodermia Ictiosiforme Congênita/veterinária , Receptores de Superfície Celular/genética , Deleção de Sequência , Animais , Doenças do Cão/patologia , Cães , Epiderme/patologia , Feminino , Genes Recessivos , Eritrodermia Ictiosiforme Congênita/genética , Eritrodermia Ictiosiforme Congênita/patologia , Linhagem , Receptores de Superfície Celular/metabolismo
15.
Clin Neuropathol ; 38(4): 157-167, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30738494

RESUMO

Neutral lipid storage disease with myopathy (NLSDM) is a triglyceride metabolic disorder caused by defects of adipose triglyceride lipases (ATGL). The coexistence of lipid vacuoles and rimmed vacuoles in the myofibers is a characteristic pathological change in some NLSDM cases. However, it has not been explored whether autophagic abnormalities exist in the NLSDM myofibers with rimmed vacuole. Herein, we report that 5 patients with NLSDM initially presented with muscle weakness in the right arm related to long-term physical efforts, then developed muscle weakness of other limbs. Pathogenic mutations in the PNPLA2 gene were identified in all patients. Myopathological analysis showed a coexistence of massive lipid vacuoles and rimmed vacuoles, which was not associated with the age of onset or mutation sites, but closely related to the severity of muscle degeneration. The rimmed vacuoles showed strong immunopositivity to autophagic markers, but were negative to apoptotic markers. Significant immunoreactivity of p62 was observed in the rimmed vacuoles, while the lysosomal marker LAMP1 was severely decreased. Our study expanded the clinical and genetic spectrum of NLSDM. Loss of ATGL activity in muscle fibers with rimmed vacuoles induced a marked increase in autophagic formation, but lowered down the turnover of autolysosomes due to malfunction of lysosomes.


Assuntos
Lipase/genética , Erros Inatos do Metabolismo Lipídico/genética , Músculo Esquelético/patologia , Doenças Musculares/patologia , Adulto , Apoptose/fisiologia , Autofagia , Feminino , Humanos , Eritrodermia Ictiosiforme Congênita/genética , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/patologia , Glicoproteínas de Membrana Associadas ao Lisossomo/genética , Masculino , Pessoa de Meia-Idade , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Mutação/genética , Vacúolos/genética
16.
Mol Genet Genomic Med ; 7(3): e539, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30600594

RESUMO

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date. METHODS: Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. All patients were born to consanguineous parents and diagnosed with ARCI. Mutations were analyzed by homozygosity mapping and direct sequencing. RESULTS: We have detected mutations in all families in five different genes: TGM1, ABCA12, CYP4F22, NIPAL4, and ALOXE3. Five likely pathogenic variants were unknown so far, a splice site and a missense variant in TGM1, a splice site variant in NIPAL4, and missense variants in ABCA12 and CYP4F22. We attributed TGM1 and ABCA12 mutations to the most severe forms of lamellar and erythematous ichthyoses, respectively, regardless of treatment. Other mutations highlighted the presence of a phenotypic spectrum in ARCI. CONCLUSION: Our results contribute to expanding the mutational spectrum of ARCI and revealed new insights into genotype/phenotype correlations. The findings are instrumental for a faster and more precise diagnosis, a better understanding of the pathophysiology, and the definition of targets for more specific therapies for ARCI.


Assuntos
Eritrodermia Ictiosiforme Congênita/genética , Taxa de Mutação , Transportadores de Cassetes de Ligação de ATP/genética , Adolescente , Criança , Sistema Enzimático do Citocromo P-450/genética , Feminino , Genes Recessivos , Genótipo , Humanos , Eritrodermia Ictiosiforme Congênita/epidemiologia , Lipoxigenase/genética , Masculino , Paquistão , Fenótipo , Receptores de Superfície Celular/genética , Arábia Saudita , Transglutaminases/genética , Adulto Jovem
17.
Transplant Proc ; 51(1): 90-91, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30655144

RESUMO

Herein we report a case of liver dysfunction caused by consumption of vitamin A supplements leading to liver transplantation. The patient was a 48-year-old male with a medical history of congenital ichthyosiform erythroderma in treatment with vitamin A until 12 years of age, at which point he discontinued the supplements because he had developed ascites. Liver cirrhosis was diagnosed as secondary to hypervitaminosis A on the basis of histologic examination of liver biopsy and the absence of other potential causes of chronic liver disease. Despite interruption of administration of vitamin A, the patient continued to deteriorate over the years, with development of portal hypertension signs. His medical conditions were aggravated with the development of hepatic insufficiency manifested by refractory ascites, renal insufficiency, and severe encephalopathy and he underwent orthotopic liver transplantation, followed by disappearance of all signs of portal hypertension. This case highlights the need to take a careful history of consumption of vitamin A when evaluating a patient with liver failure.


Assuntos
Suplementos Nutricionais/envenenamento , Hipervitaminose A/complicações , Cirrose Hepática/induzido quimicamente , Cirrose Hepática/cirurgia , Transplante de Fígado , Humanos , Hipertensão Portal/induzido quimicamente , Eritrodermia Ictiosiforme Congênita/complicações , Fígado/patologia , Masculino , Pessoa de Meia-Idade
18.
Turk J Gastroenterol ; 30(1): 105-108, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30457558

RESUMO

Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromosome 3, lipid is stored in the granulocytes at various sites in the human body, such as the muscle, liver, eye, ear, central nervous system, and bone marrow. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. A 38-year-old male patient was referred to our Internal Medicine Clinic for consultation with laboratory findings as follows: high aspartate aminotransferase (AST; 203 U/L), alanine aminotransferase (ALT; 151 U/L), gamma-glutamyl transferase (GGT; 167 U/L), creatine kinase (CK; 1127 U/L) levels and low platelet levels (108000). After ultrasonography and gastroscopy, the patient was diagnosed with liver cirrhosis. Bilateral mixed-type hearing loss on audial tests and bilateral punctuate keratopathy, ectropion, and cataract in the left eye on ophthalmological tests were found. For the definitive diagnosis of Chanarin Dorfman syndrome, peripheral blood was examined, which revealed lipid accumulation in the neutrophils (Jordan's anomaly). We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation, the possibility of Chanarin Dorfman syndrome should be considered.


Assuntos
Eritrodermia Ictiosiforme Congênita/diagnóstico , Erros Inatos do Metabolismo Lipídico/diagnóstico , Doenças Musculares/diagnóstico , Adulto , Catarata/etiologia , Diagnóstico Diferencial , Fibrose/etiologia , Perda Auditiva/etiologia , Hepatomegalia/etiologia , Humanos , Eritrodermia Ictiosiforme Congênita/complicações , Ictiose/etiologia , Deficiência Intelectual/etiologia , Erros Inatos do Metabolismo Lipídico/complicações , Masculino , Doenças Musculares/complicações , Doenças Musculares/etiologia , Esplenomegalia/etiologia
20.
Br J Dermatol ; 180(2): 272-281, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30216406

RESUMO

These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert-based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling.


Assuntos
Terapia Comportamental/normas , Consenso , Fármacos Dermatológicos/uso terapêutico , Dermatologia/normas , Eritrodermia Ictiosiforme Congênita/terapia , Administração Oral , Administração Tópica , Terapia Comportamental/métodos , Dermatologia/métodos , Europa (Continente) , Aconselhamento Genético/normas , Humanos , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/psicologia , Qualidade de Vida , Apoio Social , Revisões Sistemáticas como Assunto
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