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1.
J Dermatol ; 50(4): 494-499, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36419401

RESUMO

Netherton syndrome (NS) is a rare disorder of cornification associated with high morbidity. It is caused by bi-allelic mutations in SPINK5 encoding the serine protease inhibitor LEKTI. Previous studies have shown Th17 skewing with IL-23 upregulation in NS, raising the possibility that targeting these inflammatory pathways may alleviate disease manifestations. We ascertained the therapeutic efficacy of six doses of ustekinumab administered to three patients with NS over a period of 13 months using the Ichthyosis Area and Severity Index (IASI), the Dermatology Life Quality Index (DLQI), a visual analogue scale (VAS) for itch and the peak-pruritus numeric rating scale (PP-NRS). Histopathology analysis including CD3, CD4, CD8 and interleukin 17 (IL-17) immunostaining, was performed at baseline and 4 weeks following the last ustekinumab dose. Total IASI scores were reduced by 28% in two patients at week 16 with sustained response by week 56. No consistent improvement in DLQI, VAS for itch and PP-NRS scores was observed. The inflammatory infiltrate and the degree of acanthosis were slightly reduced at week 56 as compared to baseline. No significant change in immunostaining of the various inflammatory markers was observed at week 56. In conclusion, this case series did not demonstrate a significant therapeutic effect of ustekinumab in NS.


Assuntos
Ictiose , Síndrome de Netherton , Humanos , Síndrome de Netherton/tratamento farmacológico , Síndrome de Netherton/genética , Ustekinumab/uso terapêutico , Ictiose/genética , Mutação , Inibidor de Serinopeptidase do Tipo Kazal 5/genética
2.
J Psoriasis Psoriatic Arthritis ; 8(3): 90-95, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39296311

RESUMO

Background: A broad spectrum of adverse reactions associated with the use of tumor necrosis factor alpha (TNFα) antagonists has been recognized over the past years. Induction of scalp psoriasis is a less known undesirable consequence of the use of these drugs and is not well characterized. Objective: To characterize TNFα inhibitors-induced psoriatic alopecia. Methods: We studied 6 patients with TNF-inhibitor induced psoriatic alopecia and reviewed 28 patients with this condition reported in the literature to date. Results: In addition to severe scalp psoriasis, we report hair follicle pathologies ranging from alopecia areata to scarring alopecia. Prognosis was good, but discontinuation of TNFα inhibitors was required in more than half of the cases in order to achieve a favourable outcome. Conclusion: TNFα inhibitors-associated psoriatic alopecia is rarely reported but requires a high index of suspicion and prompt diagnosis, as timely intervention may prevent irreversible damage.

3.
Clin Exp Dermatol ; 47(9): 1703-1706, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35340038

RESUMO

Generalized acquired dermatoses can seldom manifest more prominently or exclusively along the lines of Blaschko. Six individuals with segmental atopic dermatitis (AD) have been reported to date. We present three additional cases of segmental cutaneous manifestations superimposed on generalized AD, and review the relevant literature.


Assuntos
Dermatite Atópica , Dermatite Atópica/complicações , Dermatite Atópica/diagnóstico , Humanos
4.
Genet Med ; 24(5): 1085-1095, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35168889

RESUMO

PURPOSE: Palmoplantar keratodermas (PPKs) form a group of disorders characterized by thickening of palm and sole skin. Over the past 2 decades, many types of inherited PPKs have been found to result from abnormal expression, processing, or function of adhesion proteins. METHODS: We used exome and direct sequencing to detect causative pathogenic variants. Functional analysis of these variants was conducted using reverse transcription quantitative polymerase chain reaction, immunofluorescence confocal microscopy, immunoblotting, a promoter reporter assay, and chromatin immunoprecipitation. RESULTS: We identified 2 heterozygous variants (c.1226A>G and c.633_634dupGT) in KLF4 in 3 individuals from 2 different unrelated families affected by a dominant form of PPK. Immunofluorescence staining for a number of functional markers revealed reduced epidermal DSG1 expression in patients harboring heterozygous KLF4 variants. Accordingly, human keratinocytes either transfected with constructs expressing these variants or downregulated for KLF4 displayed reduced DSG1 expression, which in turn has previously been found to be associated with PPK. A chromatin immunoprecipitation assay confirmed direct binding of KLF4 to the DSG1 promoter region. The ability of mutant KLF4 to transactivate the DSG1 promoter was significantly decreased when compared with wild-type KLF4. CONCLUSION: Loss-of-function variants in KLF4 cause a novel form of dominant PPK and show its importance in the regulation of epidermal differentiation.


Assuntos
Ceratodermia Palmar e Plantar , Humanos , Sequenciamento do Exoma , Heterozigoto , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/patologia
5.
Acta Dermatovenerol Croat ; 291(1): 39-41, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34477062

RESUMO

Darier-White disease is a relatively common autosomal dominant genodermatosis caused by mutation in the ATP2A2 gene. It is characterized by multiple warty papules coalescing into plaques in the seborrheic areas and by specific histological skin changes. Palm and sole involvement in Darier-White disease is usually mild, mainly featuring discrete and small keratotic papules. We present a unique case of Darier-White disease presenting with a diffuse, mutilating hystrix-like palmoplantar keratoderma.


Assuntos
Doença de Darier , Ceratodermia Palmar e Plantar , Doença de Darier/diagnóstico , Doença de Darier/genética , Humanos , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/genética , Mutação
6.
Acta Dermatovenerol Croat ; 29(2): 67-71, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34477071

RESUMO

BACKGROUND: The role of the T-regulatory cells (Tregs) marker forkhead box Protein 3 (FOXP3) in mycoses fungoides (MF) pathogenesis is unclear and the results of previous studies are inconclusive. OBJECTIVE: We aimed at ascertaining the possibility that FOXP3 expression may serve to predict MF stage and response to therapy. PATIENTS AND METHODS: Immunohistochemistry staining for FOXP3 was performed on 30 skin biopsies from patients with MF, and FOXP3 expression level was quantitatively graded. Disease stage, progression, and response to treatment were determined based on clinical and imaging evidence, and association with FOXP3 expression was assessed. RESULTS: FOXP3 expression in the dermis correlated with poor response to treatment (P=0.047). A negative non-significant relationship between epidermal FOXP3 expression and clinical stage severity was observed (P=0.17). CONCLUSIONS: Dermal FOXP3 expression in MF lesions could be used to predict response to treatment in patients with MF.


Assuntos
Micose Fungoide , Neoplasias Cutâneas , Fatores de Transcrição Forkhead , Humanos , Imuno-Histoquímica , Micose Fungoide/terapia , Neoplasias Cutâneas/terapia , Linfócitos T Reguladores
7.
Pediatr Dermatol ; 38(2): 436-441, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33471381

RESUMO

BACKGROUND: Epidermolysis bullosa simplex (EBS) is a heterogeneous group of inherited disorders characterized by skin fragility due to intraepidermal separation. Most cases result from heterozygous mutations in KRT5 or KRT14; however, a minority of affected individuals carry mutations in non-keratin genes including DST encoding an epithelial isoform of dystonin. DST-associated EBS is transmitted as an autosomal recessive trait. Here, we report a series of EBS patients carrying bi-allelic DST mutations and review previously reported cases aiming to delineate phenotype-genotype correlations. METHODS: Whole-exome and direct sequencing were used for variant analysis. Review of previously reported cases was performed. RESULTS: Mutation analysis revealed DST mutations in five patients belonging to three families. Two variants have not been previously reported: c.7097dupA (p.Tyr2366X) and c.7429delC (p.Leu2477Serfs*13). We identified an additional six cases in the literature, bringing the total number of individuals affected with EBS due to DST variants to 11. Patients displayed distinctive phenotypes regardless of the causative variant. CONCLUSIONS: The current study expands the clinical and genetic spectrum of DST-associated EBS subtype.


Assuntos
Distonina/genética , Epidermólise Bolhosa Simples/genética , Humanos , Queratina-14/genética , Queratina-5/genética , Mutação , Fenótipo
8.
Genet Med ; 22(7): 1227-1234, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32336749

RESUMO

PURPOSE: Localized autosomal recessive hypotrichosis (LAH) has been associated with pathogenic variants in DSG4, encoding a desmosomal protein as well as in LIPH and LPAR6, encoding respectively lipase H, which catalyzes the formation of 2-acyl-lysophosphatidic acid (LPA), and lysophosphatidic acid receptor 6, a receptor for LPA. LPA promotes hair growth and differentiation. In this study we aimed at delineating the genetic basis of LAH in patients without pathogenic variants in these three genes. METHODS: Variant analysis was conducted using exome and direct sequencing. We then performed quantitative reverse transcription polymerase chain reaction (RT-qPCR), immunofluorescence staining, immunoblotting, enzymatic, and coimmunoprecipitation assays to evaluate the consequences of potential etiologic variants. RESULTS: We identified homozygous variants in C3ORF52 in four individuals with LAH. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H-mediated LPA biosynthesis. CONCLUSION: LAH can be caused by abnormal function of at least three proteins which are necessary for proper LPA biosynthesis.


Assuntos
Hipotricose , Alopecia , Desmogleínas/genética , Genes Recessivos , Homozigoto , Humanos , Hipotricose/genética , Lisofosfolipídeos , Linhagem , Receptores de Ácidos Lisofosfatídicos/genética
9.
Isr Med Assoc J ; 21(2): 82-84, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30772956

RESUMO

BACKGROUND: Frozen section (FS) is often performed when histopathological evaluations are urgently required for implementation of therapeutic measures. In dermatology, this method is most commonly used to evaluate excision margins of tumors. FS are also routinely employed to differentiate toxic epidermal necrolysis from staphylococcal scalded skin syndrome. However, little is currently known about the performance of FS in the diagnosis of inflammatory dermatoses. OBJECTIVES: To compare histopathological diagnoses in a series of patients with a clinical diagnosis of an inflammatory dermatosis for which FS and paraffin-section (PS) specimens were obtained on the same day. METHODS: We conducted a single-center retrospective analysis of 43 cases. All histological slides were reviewed by a single dermato-pathologist. Concordance was calculated between FS and PS. RESULTS: Patients were divided into three groups according to diagnosis: papulosquamous diseases (group I), drug eruptions (group II), and a heterogeneous group (group III) that included cases of bullous vasculitis and Sweet syndrome. Among the three groups, the results of FS and of PS were discordant only in five cases (5/43, 11.6%). Compared to PS, FS had a sensitivity of 92.9% [95% confidence interval (95%CI) 64.17-99.63%] and a specificity of 100% in group I, sensitivity of 90.9% (95%CI 57.12-99.52%) and specificity of 100% in group II, and sensitivity of 83.33% (95%CI 60.78-94.16%) and specificity of 100% in group III. The degree of agreement between the results of the FS and of the PS was almost perfect (kappa = 0.95, 0.93 and 0.85 respectively). CONCLUSIONS: This study suggests that FS is a valid approach for the rapid diagnosis of inflammatory dermatoses. This method is as specific as PS, although it is less sensitive.


Assuntos
Secções Congeladas/métodos , Inclusão em Parafina/métodos , Dermatopatias/diagnóstico , Dermatopatias/patologia , Biópsia , Diagnóstico Diferencial , Humanos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Pele/patologia
10.
N Engl J Med ; 380(9): 833-841, 2019 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-30763140

RESUMO

BACKGROUND: Central centrifugal cicatricial alopecia (CCCA) is the most common form of scarring alopecia among women of African ancestry. The disease is occasionally observed to affect women in families in a manner that suggests an autosomal dominant trait and usually manifests clinically after intense hair grooming. We sought to determine whether there exists a genetic basis of CCCA and, if so, what it is. METHODS: We used exome sequencing in a group of women with alopecia (discovery set), compared the results with those in a public repository, and applied other filtering criteria to identify candidate genes. We then performed direct sequencing to identify disease-associated DNA variations and RNA sequencing, protein modeling, immunofluorescence staining, immunoblotting, and an enzymatic assay to evaluate the consequences of potential etiologic mutations. We used a replication set that consisted of women with CCCA to confirm the data obtained with the discovery set. RESULTS: In the discovery set, which included 16 patients, we identified one splice site and three heterozygous missense mutations in PADI3 in 5 patients (31%). (The approximate prevalence of the disease is up to 5.6%.) PADI3 encodes peptidyl arginine deiminase, type III (PADI3), an enzyme that post-translationally modifies other proteins that are essential to hair-shaft formation. All three CCCA-associated missense mutations in PADI3 affect highly conserved residues and are predicted to be pathogenic; protein modeling suggests that they result in protein misfolding. These mutations were found to result in reduced PADI3 expression, abnormal intracellular localization of the protein, and decreased enzymatic activity - findings that support their pathogenicity. Immunofluorescence staining showed decreased expression of PADI3 in biopsy samples of scalp skin obtained from patients with CCCA. We then directly sequenced PADI3 in an additional 42 patients (replication set) and observed genetic variants in 9 of them. A post hoc analysis of the combined data sets showed that the prevalence of PADI3 mutation was higher among patients with CCCA than in a control cohort of women of African ancestry (P = 0.002 by the chi-square test; P = 0.006 by Fisher's exact test; and after adjustment for relatedness of persons, P = 0.03 and P = 0.04, respectively). CONCLUSIONS: Mutations in PADI3, which encodes a protein that is essential to proper hair-shaft formation, were associated with CCCA. (Funded by the Ram Family Foundation and others.).


Assuntos
Alopecia/genética , Negro ou Afro-Americano/genética , Predisposição Genética para Doença , Cabelo/crescimento & desenvolvimento , Mutação , Desiminases de Arginina em Proteínas/genética , Adolescente , Adulto , Idade de Início , Alopecia/etnologia , Distribuição de Qui-Quadrado , Cicatriz/genética , Exoma , Feminino , Heterozigoto , Humanos , Pessoa de Meia-Idade , Mutagênese , Linhagem , Proteína-Arginina Desiminase do Tipo 3 , Desiminases de Arginina em Proteínas/metabolismo , Couro Cabeludo/patologia , Análise de Sequência de DNA
11.
J Cosmet Laser Ther ; 20(5): 265-268, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29452045

RESUMO

Schamberg's disease is one of the pigmented purpuric dermatoses (PPD). PPD encompass a large and heterogeneous group of dermatologic disorders featuring purpuric lesions often located on the lower limbs. The various forms of PPD are notoriously known to be resistant to treatment. Fractional photothermolysis has been described as a successful and safe method to induce dermal remodeling. We report three patients with Schamberg's disease who were successfully treated with 4 monthly sessions of fractional non-ablative 1540 nm erbium:glass laser, with resolution of their purpuric pigmented rash lasting up to 9 months after the last treatment session.


Assuntos
Lasers de Estado Sólido/uso terapêutico , Terapia com Luz de Baixa Intensidade , Transtornos da Pigmentação/radioterapia , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Pigmentação/patologia
12.
Am J Dermatopathol ; 39(6): 440-444, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28121638

RESUMO

Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI. The patients were shown to carry classical mutations in KRT1 or KRT10, but did not display epidermolytic changes on histology. These observations underscore the need to remain aware of the limitations of pathological features when considering a diagnosis of EI.


Assuntos
Hiperceratose Epidermolítica/patologia , Pele/patologia , Biópsia , Pré-Escolar , Análise Mutacional de DNA , Marcadores Genéticos , Predisposição Genética para Doença , Hereditariedade , Humanos , Hiperceratose Epidermolítica/genética , Imuno-Histoquímica , Queratina-1/genética , Queratina-10/genética , Masculino , Mutação , Linhagem , Fenótipo , Valor Preditivo dos Testes , Pele/química
13.
J Invest Dermatol ; 137(2): 385-393, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27769845

RESUMO

Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis. Because the patient displayed an atypical phenotype, including severe hair and nail manifestations, we scrutinized the exome sequencing data for additional potentially deleterious genetic variations in genes of relevance to the cornification process. Two mutations were identified in CAPN12, encoding a member of the calpain proteases: a paternal missense mutation (c.1511C>A; p.P504Q) and a maternal deletion due to activation of a cryptic splice site in exon 9 of the gene (c.1090_1129del; p.Val364Lysfs*11). The calpain 12 protein was found to be expressed in both the epidermis and hair follicle of normal skin, but its expression was dramatically reduced in the patient's skin. The downregulation of capn12 expression in zebrafish was associated with abnormal epidermal morphogenesis. Small interfering RNA knockdown of CAPN12 in three-dimensional human skin models was associated with acanthosis, disorganized epidermal architecture, and downregulation of several differentiation markers, including filaggrin. Accordingly, filaggrin expression was almost absent in the patient skin. Using ex vivo live imaging, small interfering RNA knockdown of calpain 12 in skin from K14-H2B GFP mice led to significant hair follicle catagen transformation compared with controls. In summary, our results indicate that calpain 12 plays an essential role during epidermal ontogenesis and normal hair follicle cycling and that its absence may aggravate the clinical manifestations of ABCA12 mutations.


Assuntos
Calpaína/fisiologia , Ictiose/genética , Transportadores de Cassetes de Ligação de ATP/genética , Animais , Calpaína/genética , Criança , Proteínas Filagrinas , Folículo Piloso/fisiologia , Humanos , Ictiose/patologia , Proteínas de Filamentos Intermediários/análise , Masculino , Camundongos , Mutação , Peixe-Zebra
14.
Acta Dermatovenerol Croat ; 24(3): 218-20, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27663924

RESUMO

A patient with mycosis fungoides (MF), Kaposi's sarcoma, T-cell rich B-cell lymphoma, and T-cell lymphoma with angioimmunoblastic features is described. The appearance of multiple malignancies in this patient may have been caused by previous exposure to radiation in the Chernobyl accident and/or systemic chemotherapy for the initial T-cell rich B-cell lymphoma which he underwent.


Assuntos
Linfoma de Células B/patologia , Micose Fungoide/patologia , Sarcoma de Kaposi/patologia , Neoplasias Cutâneas/patologia , Humanos , Linfoma de Células B/complicações , Linfoma de Células B/terapia , Masculino , Pessoa de Meia-Idade , Micose Fungoide/etiologia , Micose Fungoide/terapia , Sarcoma de Kaposi/complicações , Sarcoma de Kaposi/terapia , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/terapia
15.
Pediatr Dermatol ; 33(3): 322-6, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27087580

RESUMO

BACKGROUND: Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis. METHODS: To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay. RESULTS: We found that the peculiar clinical features displayed by the patient are due to somatic mosaicism for a heterozygous mutation in the GJB2 gene. CONCLUSION: Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding.


Assuntos
Conexinas/genética , Mosaicismo/embriologia , Mutação , Poroceratose/genética , Poroceratose/patologia , Biópsia por Agulha , Conexina 26 , Análise Mutacional de DNA , Glândulas Écrinas/patologia , Feminino , Genótipo , Humanos , Imuno-Histoquímica , Lactente , Polimorfismo de Nucleotídeo Único , Poroceratose/diagnóstico , Doenças Raras
16.
Pediatr Dermatol ; 33(1): e10-3, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26758100

RESUMO

Pemphigus refers to a group of potentially fatal blistering skin diseases that are often due to the deleterious effects of autoantibodies directed against desmosomal antigens. Although desmogleins have been mainly implicated as autoantigens in pemphigus, a steadily growing body of evidence suggests that other desmosomal proteins may be causally involved as well. Antibodies directed against desmocollin-3 have been shown to play a direct role in the pathogenesis of several types of pemphigus. Here we describe the case of a child with localized pemphigus foliaceus and immunoglobulin G (IgG) reactivity exclusively directed to desmocollins. The present report suggests that autoantibodies against nondesmoglein antigens may play a role in the pathogenesis of superficial pemphigus, in addition to pemphigus vulgaris, paraneoplastic pemphigus, and IgA pemphigus.


Assuntos
Autoanticorpos/sangue , Autoantígenos/imunologia , Desmocolinas/imunologia , Imunoglobulina G/sangue , Pênfigo/diagnóstico , Pele/patologia , Criança , Ensaio de Imunoadsorção Enzimática , Feminino , Imunofluorescência , Humanos , Pênfigo/imunologia , Pênfigo/patologia
17.
J Cosmet Laser Ther ; 17(1): 9-14, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25151912

RESUMO

INTRODUCTION: The growing demand for skin rejuvenation procedures with minimal down time and low risk has led to the development of fractional radiofrequency (RF) systems. The new VoluDerm™ RF microneedle technology creates minute columns of tissue thermal microablation. Treatment triggers natural fractional healing, resulting in dermal volumizing and skin renewal. This preclinical research assessed the safety and efficacy of the VoluDerm through histological evaluation of morphological changes in the target tissue. METHODS: Following approval of protocol by ethical committee, treatments were conducted on two domestic pigs using VoluDerm disposable tips. Histological samples of 14, 7, 4 days and immediately after treatment with various energy settings were analyzed. RESULTS: Immediate VoluDerm epidermal and dermal effects, and progress of healing process, as function of time following treatment (days 4 and 7), were demonstrated. Histology analysis of samples of 14 days demonstrated complete healing for all energy levels. SUMMARY: This in vivo histology confirmed the safe and effective performance of the VoluDerm treatment. A fractional pattern of affected areas, surrounded by healthy tissue, was demonstrated. Healing process proved natural dermal renewal and epidermal complete regeneration. Histology supports clinical advantages of the VoluDerm natural-looking skin enhancement, with none to minimal pain and no downtime.


Assuntos
Terapia por Radiofrequência , Rejuvenescimento , Fenômenos Fisiológicos da Pele , Pele/anatomia & histologia , Cicatrização , Técnicas de Ablação/efeitos adversos , Animais , Agulhas , Ondas de Rádio/efeitos adversos , Suínos
19.
Isr Med Assoc J ; 16(3): 168-70, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24761705

RESUMO

Erythema nodosum and pyoderma gangrenosum are common skin manifestations in inflammatory bowel diseases. Curiously, these two cutaneous features have seldom been reported to occur simultaneously. We present three patients affected with inflammatory bowel disease with concomitant erythema nodosum and pyoderma gangrenosum.


Assuntos
Colite Ulcerativa/complicações , Doença de Crohn/complicações , Eritema Nodoso/etiologia , Pioderma Gangrenoso/etiologia , Eritema Nodoso/patologia , Feminino , Humanos , Doenças Inflamatórias Intestinais/complicações , Pessoa de Meia-Idade , Pioderma Gangrenoso/patologia , Adulto Jovem
20.
Nat Genet ; 45(10): 1244-1248, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23974871

RESUMO

The relative contribution of immunological dysregulation and impaired epithelial barrier function to allergic diseases is still a matter of debate. Here we describe a new syndrome featuring severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome) caused by homozygous mutations in DSG1. DSG1 encodes desmoglein 1, a major constituent of desmosomes, which connect the cell surface to the keratin cytoskeleton and have a crucial role in maintaining epidermal integrity and barrier function. Mutations causing SAM syndrome resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion. In addition, DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines. Our deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect.


Assuntos
Dermatite/genética , Desmogleína 1/genética , Hipersensibilidade/genética , Síndrome de Emaciação/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Mutação , Índice de Gravidade de Doença , Síndrome , Síndrome de Emaciação/metabolismo
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