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Introduction: One-third of fetal soft tissue tumors are malignant and include congenital fibrosarcoma (CF). We report two fetal CFs arising in the posterior mediastinum. Case Presentation: In case 1, the CF resulted in a mediastinal shift, extensive infiltration of the tumor around adjacent structures, pulmonary hypoplasia, pleural effusion, and rapid growth. The pregnancy was terminated. Case 2 had multiple intrathoracic masses, thoracic hypoplasia, pleural effusion, and fetal death. Both were diagnosed as fibrosarcoma at fetopsy. Discussion: Although congenital CF tends to be locally aggressive with a low metastatic rate, it tends to grow rapidly and the tumor location can affect fetal survival. In Case 1, the tumor demonstrated locally aggressive behavior whereas multiple distant metastases such as lung, liver, adrenals, and left eye were detected in Case 2. The tumor was directly responsible for intrauterine fetal demise in the second case.
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Fibrossarcoma , Derrame Pleural , Neoplasias de Tecidos Moles , Feminino , Feto/patologia , Fibrossarcoma/diagnóstico , Fibrossarcoma/patologia , Humanos , Mediastino/patologia , Gravidez , Neoplasias de Tecidos Moles/diagnósticoRESUMO
Juvenile dermatomyositis (JDM) is an inflammatory myopathy which causes severe morbidity and high mortality if untreated. In this study, we aimed to define the T-helper cell profile in the muscle biopsies of JDM patients. Muscle biopsies of twenty-six patients (50% female) were included in the study. Immunohistochemical expression of CD3, CD20, CD138, CD68, IL-17, Foxp3, IFN-É£, IFN-alpha and IL-4 was studied and muscle biopsies were scored using the JDM muscle biopsy scoring tool. Inflammatory cells were in small clusters in perimysium and perivascular area or scattered throughout the endomysium in most biopsies; however in 2 biopsies, lymphoid follicle-like big clusters were observed, and in one, there was a very dense and diffuse inflammatory infiltration nearly destroying all the muscle architecture. Seventy-three per cent of the biopsies had T cells, 88% had B cells, 57% had plasma cells, and all had macrophages. As for T-helper cell subtypes, 80% of the biopsies were Th1 positive, 92% Th17 positive and 30% Treg positive. No IL-4 positive inflammatory cell was detected, and only 2 biopsies showed IFN-alpha positivity. The mean JDM biopsy score was 17.6, meaning moderate to severe muscular involvement. Visual analogue score of the pathologist was strongly correlated with histopathological features. B cells, macrophages, plasma cells and T cells constitute the inflammatory milieu of the JDM muscle biopsies. As for T cells, JDM is a disease mainly related with Th1 and Th17 T-helper cell subtypes and to some extend Treg. Th2 cells are not involved in the pathogenesis.
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Dermatomiosite/imunologia , Músculo Quadríceps/imunologia , Linfócitos T Auxiliares-Indutores/imunologia , Adolescente , Linfócitos B/imunologia , Linfócitos B/metabolismo , Linfócitos B/patologia , Biópsia , Criança , Pré-Escolar , Dermatomiosite/patologia , Feminino , Humanos , Lactente , Masculino , Músculo Quadríceps/patologia , Estudos Retrospectivos , Linfócitos T Auxiliares-Indutores/metabolismo , Linfócitos T Auxiliares-Indutores/patologiaRESUMO
INTRODUCTION: Sengers syndrome is an autosomal recessive disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. The causative AGK mutations have been identified with whole exome sequencing. CLINICAL REPORT: We report on a 9-month-old infant with episodic lactic acidosis who died before a definitive diagnosis could be established. Postmortem genomic autopsy revealed a novel homozygous NM_018238: c.1215dupG; p.Phe406Valfs*4 mutation in AGK (OMIM 610345) confirming the diagnosis of Sengers syndrome. CONCLUSION: This report provides further evidence that reverse genetics is a useful approach in patients who do not manifest the hallmark features of known and recognizable syndromes.
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Cardiomiopatias/genética , Cardiomiopatias/patologia , Catarata/genética , Catarata/patologia , Mutação/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Autopsia/métodos , Cardiomiopatias/diagnóstico , Catarata/diagnóstico , Feminino , Testes Genéticos/métodos , Humanos , Lactente , Masculino , Mitocôndrias/genética , FenótipoRESUMO
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants in FLAD1, which encodes FAD synthase (FADS), as the cause of MADD and respiratory-chain dysfunction in nine individuals recruited from metabolic centers in six countries. In most individuals, we identified biallelic frameshift variants in the molybdopterin binding (MPTb) domain, located upstream of the FADS domain. Inasmuch as FADS is essential for cellular supply of FAD cofactors, the finding of biallelic frameshift variants was unexpected. Using RNA sequencing analysis combined with protein mass spectrometry, we discovered FLAD1 isoforms, which only encode the FADS domain. The existence of these isoforms might explain why affected individuals with biallelic FLAD1 frameshift variants still harbor substantial FADS activity. Another group of individuals with a milder phenotype responsive to riboflavin were shown to have single amino acid changes in the FADS domain. When produced in E. coli, these mutant FADS proteins resulted in impaired but detectable FADS activity; for one of the variant proteins, the addition of FAD significantly improved protein stability, arguing for a chaperone-like action similar to what has been reported in other riboflavin-responsive inborn errors of metabolism. In conclusion, our studies identify FLAD1 variants as a cause of potentially treatable inborn errors of metabolism manifesting with MADD and shed light on the mechanisms by which FADS ensures cellular FAD homeostasis.
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Mutação da Fase de Leitura/genética , Doenças Mitocondriais/genética , Deficiência Múltipla de Acil Coenzima A Desidrogenase/genética , Nucleotidiltransferases/genética , Riboflavina/farmacologia , Complexo Vitamínico B/farmacologia , Adulto , Western Blotting , Estudos de Casos e Controles , Células Cultivadas , Transporte de Elétrons , Feminino , Fibroblastos/efeitos dos fármacos , Fibroblastos/metabolismo , Fibroblastos/patologia , Flavina-Adenina Dinucleotídeo/metabolismo , Perfilação da Expressão Gênica , Humanos , Lactente , Recém-Nascido , Fígado/efeitos dos fármacos , Fígado/metabolismo , Fígado/patologia , Masculino , Doenças Mitocondriais/tratamento farmacológico , Doenças Mitocondriais/patologia , Deficiência Múltipla de Acil Coenzima A Desidrogenase/tratamento farmacológico , Deficiência Múltipla de Acil Coenzima A Desidrogenase/patologia , Músculo Esquelético/efeitos dos fármacos , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Mutagênese Sítio-Dirigida , Ligação Proteica , RNA Mensageiro/genética , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Pele/efeitos dos fármacos , Pele/metabolismo , Pele/patologia , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Adulto JovemRESUMO
OBJECTIVE: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. MATERIALS AND METHODS: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases. We evaluated cases for presence of DNA methylation pathway-related gene polymorphisms. RESULTS: We demonstrated that renal abnormalities and disorders exist in 75% of the cases. Pulmonary system anomalies and single umbilical artery were the most frequently observed associated abnormalities. Polymorphisms with known reduced MTHFR activity were found in 81.8% (9/11) of the cases.Association between urinary system abnormalities and polymorphisms with known reduced MTHFR activity was observed in 88.8% (8/9) of the cases. CONCLUSION: Physicians should keep in mind that polymorphisms with known reduced MTHFR activity may be associated with urinary tract abnormalities and OAH.
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Feto/anormalidades , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Oligo-Hidrâmnio/genética , Sistema Urinário/anormalidades , Feminino , Humanos , Polimorfismo de Nucleotídeo Único , Gravidez , Estudos RetrospectivosRESUMO
Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.9% among 534 consecutively screened cases. Patients with ADCK4 mutations showed a largely renal-limited phenotype, with three subjects exhibiting occasional seizures, one subject exhibiting mild mental retardation, and one subject exhibiting retinitis pigmentosa. ADCK4 nephropathy presented during adolescence (median age, 14.1 years) with nephrotic-range proteinuria in 44% of patients and advanced CKD in 46% of patients at time of diagnosis. Renal biopsy specimens uniformly showed FSGS. Whereas 47% and 36% of patients with mutations in WT1 and NPHS2, respectively, progressed to ESRD before 10 years of age, ESRD occurred almost exclusively in the second decade of life in ADCK4 nephropathy. However, CKD progressed much faster during adolescence in ADCK4 than in WT1 and NPHS2 nephropathy, resulting in similar cumulative ESRD rates (>85% for each disorder) in the third decade of life. In conclusion, ADCK4-related glomerulopathy is an important novel differential diagnosis in adolescents with SRNS/FSGS and/or CKD of unknown origin.
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Glomerulosclerose Segmentar e Focal/genética , Mutação , Proteínas Quinases/genética , Adolescente , Idade de Início , Criança , Pré-Escolar , Humanos , LactenteRESUMO
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. CASE REPORT: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. CONCLUSION: Trisomy 13 is a relatively common and well-known chromosomal disorder in which disorders of sexual differentiation are not frequent. In the absence of SRY, overexpression of pro-testis genes, or decreased expression of pro-ovarian/anti-testis genes have been suggested as underlying mechanisms of testicular formation. The findings in this patient were suggestive of an underlying genomic disorder associated with FGF9 and/or SPRY2.
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Transtornos do Desenvolvimento Sexual/genética , Fator 9 de Crescimento de Fibroblastos/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Membrana/genética , Fatores de Transcrição SOXB1/genética , Síndrome da Trissomia do Cromossomo 13/genética , Transtornos do Desenvolvimento Sexual/complicações , Feminino , Fibroblastos/metabolismo , Humanos , Recém-Nascido , Cariotipagem , Translocação Genética , Síndrome da Trissomia do Cromossomo 13/complicaçõesRESUMO
Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted resequencing in a Turkish consanguineous multiplex family and identified a canonic splice site mutation in ANKS6 associated with an NPHP-like phenotype. Furthermore, we identified four additional ANKS6 variants in a cohort of 56 unrelated patients diagnosed with CKD due to nephronophthisis, chronic GN, interstitial nephritis, or unknown etiology. Immunohistochemistry in human embryonic kidney tissue demonstrated that the expression patterns of ANKS6 change substantially during development. Furthermore, we detected increased levels of both total and active ß-catenin in precystic tubuli in Han:SPRD Cy/+ rats. Overall, these data indicate the importance of ANKS6 in human kidney development and suggest a mechanism by which mutations in ANKS6 may contribute to an NPHP-like phenotype in humans.
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Doenças Renais Císticas/genética , Falência Renal Crônica/genética , Falência Renal Crônica/patologia , Mutação/genética , Proteínas Nucleares/genética , Fenótipo , Adolescente , Adulto , Criança , Estudos de Coortes , Feminino , Humanos , Lactente , Doenças Renais Císticas/complicações , Doenças Renais Císticas/patologia , Masculino , Pessoa de Meia-Idade , Linhagem , TurquiaRESUMO
BACKGROUND: Cervical polyps (CP) are quite common in adults, they are extremely rare in children and adolescents. CP containing mesonephric duct remnants (MDR) are few millimeters in size and seldom grossly visible. CASE: A 14-year-old female admitted with massive vaginal bleeding with an intact wide hymeneal opening. Pelvic MRI revealed 47 mm × 25 mm × 35 mm polypoid mass originating from the endometrial cavity. During vaginoscopy, a polypoid mass was detected at 9 o'clock position of right lip of ectocervix and was totally excised. Light microscopy showed CP including small round or branched glands containing inspissated eosinophilic secretions and patchy chronic inflammatory infiltrate. The patient was diagnosed as gaint CP containing MDR. CONCLUSION: Giant CP is an uncommon variant of classical polyps and exhibit distinct clinical and pathologic features. However, MDR are benign lesions of cervix, detailed histopathological evaluation should be performed to all CP to differentiate malignant lesions.
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Pólipos/patologia , Doenças do Colo do Útero/patologia , Hemorragia Uterina/patologia , Ductos Mesonéfricos/patologia , Adolescente , Feminino , Humanos , Pólipos/complicações , Doenças do Colo do Útero/complicações , Hemorragia Uterina/etiologiaRESUMO
Placental transmogrification of the lung (PTL) is a rare pulmonary condition characterized by the presence of immature placental villous structures. The etiology and molecular mechanisms underlying this disease remain largely unknown. This functional study aimed to identify the molecular signatures in the pathogenesis of PTL via comprehensive transcriptome analysis. Comparative transcriptomic assessment of PTL tissue and stromal cells showed differential expression of 257 genes in PTL tissue and 189 genes in stromal cells. Notably, several transcription factors and regulators, including FOSB, FOS, JUN, and ATF3, were upregulated in PTL tissue. Additionally, genes associated with the extracellular matrix and connective tissue, such as COL1A1, MMP2, and SPARC, were significantly altered, indicating possible fibrotic changes. Gene set enrichment analysis highlighted the role of vascular development and extracellular matrix organization, and the Activator Protein-1 (AP-1) transcription factor was significantly activated in PTL tissue. Furthermore, the analysis highlighted an overlap of 25 genes between PTL tissue and stromal cells, underscoring the importance of shared molecular pathways in the pathogenesis of PTL. Among the shared genes, JUND, COL4A2, COL6A2, IGFBP5, and IGFBP7 were consistently upregulated, highlighting the possible involvement of AP-1-mediated signaling and fibrotic changes in the pathogenesis of PTL. The present findings pave the way for further research into the molecular mechanisms underlying PTL and offer novel insights for therapeutic interventions. Given the rarity of PTL, these molecular findings represent a significant step forward in our understanding this enigmatic disease.
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Perfilação da Expressão Gênica , Fator de Transcrição AP-1 , Humanos , Feminino , Fator de Transcrição AP-1/metabolismo , Fator de Transcrição AP-1/genética , Gravidez , Transcriptoma , Pulmão/patologia , Pulmão/metabolismo , Fibrose/patologia , Fibrose/genética , Placenta/patologia , Placenta/metabolismo , Pneumopatias/genética , Pneumopatias/patologia , Pneumopatias/metabolismoRESUMO
We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome 12q21. In one of the families, three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene, which encodes the aristaless-like homeobox 1 transcription factor. In the second family we identified a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene, providing evidence that complete loss of function of ALX1 protein causes severe disruption of early craniofacial development. Unlike loss of its murine ortholog, loss of human ALX1 does not result in neural-tube defects; however, it does severely affect the orchestrated fusion between frontonasal, nasomedial, nasolateral, and maxillary processes during early-stage embryogenesis. This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans.
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Fissura Palatina/genética , Proteínas de Homeodomínio/genética , Microftalmia/genética , Anormalidades Musculoesqueléticas/genética , Mutação , Orelha/anormalidades , Face/anormalidades , Homozigoto , Humanos , Fenótipo , Sítios de Splice de RNA/genética , Deleção de Sequência/genéticaRESUMO
Pubertal gynecomastia is the glandular proliferation of male breast tissue. It is regarded as a physiological phenomenon, arising due to a presumed transient imbalance in the ratio of free androgen to free estrogen. Treatment with tamoxifen, a selective estrogen receptor blocker, has been shown to effectively reduce the disc size and is generally considered for treatment when the disc diameter is > 3-4 cm. For severe or persistent cases, surgery is considered the mainstay of treatment. We present three cases who reported dissatisfaction with the results of tamoxifen treatment and were therefore submitted to adenectomy by Webster's technique preceded by liposuction. Pathology results showed adipose tissue alone, with no evidence of intraductal epithelial proliferation. The results showing a lack of residual glandular breast tissue after treatment using tamoxifen proves that it is effective in histopathologically eliminating pubertal gynecomastia.
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Ginecomastia/tratamento farmacológico , Tamoxifeno/uso terapêutico , Adolescente , Biópsia , Esquema de Medicação , Antagonistas de Estrogênios/administração & dosagem , Antagonistas de Estrogênios/uso terapêutico , Ginecomastia/patologia , Humanos , Masculino , Puberdade/efeitos dos fármacos , Puberdade/fisiologia , Estudos Retrospectivos , Tamoxifeno/administração & dosagemRESUMO
Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD. CTE is a rare autosomal recessive enteropathy that presents with intractable neonatal-onset diarrhea, intestinal failure, severe malnutrition, and parenteral nutrition dependence. Villous atrophy of the intestinal epithelium, crypt hyperplasia, and irregularity of surface enterocytes are the specific pathological findings of CTE. The small intestine and occasionally the colonic mucosa include focal epithelial tufts. In 2008, Sivagnanam et al. discovered that mutations in the epithelial cell adhesion molecule (EpCAM, MIM# 185535) were the genetic cause of CTE (MIM# 613217). More than a hundred mutations have been reported to date. Furthermore, mutations in the serine peptidase inhibitor Kunitz type 2 (SPINT2, MIM# 605124) have been linked to syndromic CTE. In this study, we report the case of a 17-month-old male infant with congenital diarrhea. Despite extensive etiological workup, no etiology could be established before admission to our center. The patient died 15 hours after being admitted to our center in a metabolically decompensated state, probably due to a delay in admission and diagnosis. Molecular autopsy with exome sequencing revealed a previously reported homozygous missense variant, c.757G>A, in EpCAM, which was confirmed by histopathological examination.
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Cardiac myxoma is rare in children. Myxomas are exceedingly rare in infancy. Right atrial myxomas were recorded in a small number of case reports involving infants worldwide. We report the case of a 2-month-old infant with giant right atrial myxoma. The case presented to our hospital with respiratory distress, and had pericardial and pleural effusion. Diagnosis of cardiac tumor was made with the aid of computerized tomography scan and echocardiogram. The tumor size was 3.1 × 3.4 × 3.9 cm. The patient worsened rapidly and had sudden cardiac arrest which did not respond to interventions. Postmortem cardiac autopsy confirmed the diagnosis of myxoma on gross examination and histology. This article aims to focus attention to the atypical size and location of this atrial myxoma, causing diagnostic difficulty in this infant.
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BACKGROUND: Crescentic glomerulonephritis (CGN) is a rapidly progressive and rare cause of glomerulonephritis in childhood. The aim of this study is to evaluate demographic data of children with crescentic glomerulonephritis, to classify the etiologies and to investigate the correlation between the severity of kidney disease and the expression of CD163+ macrophages. METHODS: Between the years 2000 and 2016 in a single center, patients under 18 years of age with kidney biopsies containing crescents were included in the study. A total of 88 children were enrolled. The expression of CD163 in kidney tissues was detected by immunohistochemistry in 61 patients. Clinical features and outcome were collected from their medical records. RESULTS: The most common etiology was Henoch-Schönlein purpura (HSP) nephritis/Immunglobulin A vasculitis (26.1%), followed by lupus nephritis (22.7%) and idiopathic crescentic glomerulonephritis (18.2%). CD163 positive cell counts in patients with GFR levels less and more than 60 ml/min/1.73 m2 at their last visit were 7.6±6.6 cells vs. 2.0±3.0 cells (p=0.057) per one glomerulus and 52.2±18.2 cells/hpf vs. 33.3±10.0 cells/hpf (p < 0.05) in tubulointerstitium, respectively. Tubulointerstitital CD163+ cells were also found to be higher in patients with end stage kidney disease than complete and partial responders (68 cells/hpf vs 39 cells/hpf, p < 0.05). CONCLUSIONS: CD163 positive cell counts, particularly in tubulointerstitial areas, have been associated with poor prognosis of CGN.
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Glomerulonefrite Membranoproliferativa , Glomerulonefrite , Falência Renal Crônica , Adolescente , Criança , Feminino , Glomerulonefrite/etiologia , Glomerulonefrite Membranoproliferativa/complicações , Humanos , Glomérulos Renais/patologia , Macrófagos/metabolismo , Macrófagos/patologia , MasculinoRESUMO
Epidermoid cysts are slowly growing tumors arising from invagination of the epidermis into the dermis traumatically or spontaneously. This implantation in the clitoris is most commonly induced by female genital mutilation. The reported cases with spontaneous onset of this clitoral lesion are scarce. Trauma other than female circumcision predisposing to the onset of the cyst has not been mentioned before. A nine-year-old girl was presented for swelling in the pubic region with the onset following an accidental trauma; the diagnosis was determined to be epidermoid cyst of the clitoris after a brief preoperative evaluation and an accurate surgical management.
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Clitóris/lesões , Cisto Epidérmico/etiologia , Doenças da Vulva/etiologia , Ferimentos não Penetrantes/complicações , Criança , Clitóris/patologia , Clitóris/cirurgia , Cisto Epidérmico/patologia , Cisto Epidérmico/cirurgia , Feminino , Humanos , Doenças da Vulva/patologia , Doenças da Vulva/cirurgia , Ferimentos não Penetrantes/patologia , Ferimentos não Penetrantes/cirurgiaRESUMO
Condyloma acuminatum (CA), which is a large cauliflower-like tumor, has been linked to human papilloma virus (HPV) types associated with skin warts. It is an uncommon condition in children, and there is no consensus regarding the optimal treatment. HPV may be acquired via sexual transmission, vertical transmission or extragenital contact. We report herein a 1.5-year-old girl with perianal giant CA, which developed due to extragenital contact and consisted of HPV types 6 and 18, to emphasize the effectiveness of surgical excision.
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Doenças do Ânus/diagnóstico , Condiloma Acuminado/diagnóstico , Papillomavirus Humano 18 , Papillomavirus Humano 6 , Doenças do Ânus/patologia , Doenças do Ânus/cirurgia , Doenças do Ânus/virologia , Condiloma Acuminado/patologia , Condiloma Acuminado/cirurgia , Condiloma Acuminado/virologia , Feminino , Humanos , LactenteRESUMO
BACKGROUND: Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) in children and can be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date, only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported. CASE: Here, we report a girl with chronic neuronopathic GD, whose disease course was complicated by massive mesenteric lymphadenopathies with resultant protein losing enteropathy despite a regular and appropriate enzyme replacement therapy of 60 IU/kg/biweekly until the development of mesenteric lymphadenopathies and 120 IU/kg/biweekly thereafter. CONCLUSIONS: PLE is a devastating and life threatening complication of GD developing despite long term use of high dose ERT. Clinicians should be alert for this complication particularly in GD patients presenting with progressive abdominal distension, edema, ascites and diarrhea or in patients who have already developed mesenteric lymphadenopathies. Timely diagnosis may allow early intervention with previously suggested surgical or medical treatment options. Although there is no specific and effective treatment, surgical and aggressive medical interventions in addition to ERT were reported to relieve diarrhea and halt progression of mesenteric lymphadenopathies.