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Farber disease in a newborn
- Source :
- Pediatric dermatology. 26(1)
- Publication Year :
- 2009
-
Abstract
- Farber disease is a rare lysosomal storage disease characterized by a clinical triad including painful joint deformity, subcutaneous nodules and hoarseness, due to progressive granulomatous inflammation. We report the case of an early presentation on a female infant who manifested typical signs 1 week after birth.
- Subjects :
- Farber disease
Joint deformity
medicine.medical_specialty
Pathology
Granuloma
business.industry
Infant, Newborn
Dermatology
medicine.disease
Skin Diseases
Infant, Newborn, Diseases
Granulomatous inflammation
Central nervous system disease
Farber Lipogranulomatosis
Subcutaneous nodule
Recien nacido
Pediatrics, Perinatology and Child Health
Lysosomal storage disease
medicine
Humans
Female
Presentation (obstetrics)
business
Skin
Subjects
Details
- ISSN :
- 15251470
- Volume :
- 26
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Pediatric dermatology
- Accession number :
- edsair.doi.dedup.....fdd46faa235c708f9c4229d469ea315d