Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis.

Journal of musculoskeletal & neuronal interactions - 1 Dec 2019

Moghadam Soheila Hoseinzadeh, Tavasoli Ali Reza, Modaresi Mohammadreza, Ziaee Vahid

Abstract excerpt

Farber disease is a rare recessive autosomal disorder presented with three main features of joint involvement, subcutaneous nodules and hoarseness. Hereby we describe three new cases of Farber disease. All three cases were first misdiagnosed as juvenile idiopathic arthritis (JIA) due to the presentation of joint swelling. Addition of hoarseness and subcutaneous nodules to the initial joint swelling questioned the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthritis, Juvenile
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Fatal Outcome

Share to Infant

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 31789304
PMCID: PMC6944811

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis.PMID 31789304Read ↗

[A case report of childhood Farber's disease and literature review].Semantic proximity Read ↗

Farber disease in a patient from China.Semantic proximity Read ↗

A novel mutation in an atypical presentation of the rare infantile Farber disease.Semantic proximity Read ↗

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.Semantic proximity Read ↗

Juvenile Idiopathic Arthritis in Harlequin Ichthyosis, a Rare Combination or the Clinical Spectrum of the Disease? Report of a Child Treated With Etanercept and Review of the Literature Semantic proximity Read ↗

A Remarkable Case of Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy Syndrome (APECED) misdiagnosed as Juvenile Idiopathic Arthritis on admissionSemantic proximity Read ↗

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.Semantic proximity Read ↗

Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.Semantic proximity Read ↗

A novel variant of DeSanto-Shinawi Syndrome with joint manifestations.Semantic proximity Read ↗

The conundrum of juvenile spondyloarthritis classification: Many names for a single disease? Lesson learned from an instructive clinical case.Semantic proximity Read ↗

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.Semantic proximity Read ↗

Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.