Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Superimposed Segmental Manifestation of Juvenile Amyopathic Dermatomyositis in a 9-year-old Boy.

ABSTRACT: Dermatomyositis is a well-known autoimmune disorder. On the other hand, juvenile amyopathic dermatomyositis (JADM) occurs rather rarely. Here, we report an unusual case in a 9-year-old Turkish boy showing a unilateral linear inflammatory skin lesion that was followed, after 16 months, by the appearance of bilateral disseminated features JADM.

SUBMITTER: Bulur I

PROVIDER: S-EPMC5527735 | biostudies-other | 2017 Jul-Aug

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Similar Datasets

Juvenile rheumatic mitral stenosis in association with perimembranous ventricular septal defect in a 3-year-old boy.

Project description:Rheumatic mitral stenosis (MS) is a well-known entity in the developing world. Though rarely seem, MS can present at a very young age with severe symptoms. We describe here an unusual association of a large perimembranous ventricular septal defect with juvenile rheumatic MS leading to severe pulmonary hypertension and heart failure in a very young child.

| S-EPMC3841425 | biostudies-other

Isoniazid toxicity in a 5-year-old boy.

Project description: Not available

| S-EPMC3707995 | biostudies-literature

Magnet ingestion by a 3-year-old boy.

Project description: Not available

| S-EPMC3735745 | biostudies-literature

Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report.

Project description:Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure. We present a case of a 6-year-old boy with nephrotic proteinuria without hypoalbuminemia or edema. His renal biopsy revealed focal segmental glomerulosclerosis (FSGS), some of the glomeruli were globally sclerotic. Hypercalciuria was present intermittently and urine protein electrophoresis showed low molecular weight protein fraction of 50%. The next generation sequencing identified pathogenic variant in OCRL gene causing Dent disease type 2. We report an uncommon histologic finding of FSGS in Dent disease type 2 and highlight the importance of protein content examination and genetic analysis for the proper diagnosis in these complicated cases.

| S-EPMC7655776 | biostudies-literature

Perioperative airway management of a 16-year-old boy with progressive airway obstruction due to juvenile nasopharyngeal angiofibroma.

Project description:Juvenile nasopharyngeal angiofibroma (JNA) involves difficult anesthetic management because of the risk of massive bleeding, while airway management is rarely a problem in JNA. This report presents an unusual case of JNA causing airway obstruction.

| S-EPMC5538053 | biostudies-other

A 12-year-old boy with fever and weight loss.

Project description: Not available

| S-EPMC8448499 | biostudies-literature

A 15-Year-Old Boy with Dyspnea and Vanishing Bones.

Project description: Not available

| S-EPMC7924538 | biostudies-literature

Congenital methemoglobinemia type II in a 5-year-old boy.

Project description:Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger-scale genetic studies.

| S-EPMC5771927 | biostudies-literature

A 10-year-old girl with low-grade B cell lymphoma complicated by anti-nuclear matrix protein 2 autoantibody-positive juvenile dermatomyositis.

Project description: Not available

| S-EPMC9308377 | biostudies-literature

Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome.

Project description:Netherton syndrome (NS) is a rare autosomal recessive disorder, characterized by a classical triad of clinical features, including congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis coupled with frequent bacterial infections (1). The genetic basis for the disease has been recently identified with mutations in gene SPINK5, which is involved in the regulation of formation of skin barriers. We report on a 16-year-old male with all the typical manifestations of NS, including atopic diathesis and ongoing serious staphylococcal infections and allergy to multiple antibiotics whose family sought help at the Eliava Phage Therapy Center when all other treatment options were failing. Treatment with several antistaphylococcal bacteriophage preparations led to significant improvement within 7?days and very substantial changes in his symptoms and quality of life after treatment for 6?months, including return visits to the Eliava Phage Therapy Center after 3 and 6?months of ongoing use of phage at home.

| S-EPMC5494523 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data