Farber Disease in a Newborn

: 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...

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Veröffentlicht in:	Pediatric dermatology 2009-01, Vol.26 (1), p.44-46
Hauptverfasser:	Sana, Chaouki, Larbi, Elarqam, Samir, Atmani, Abdelhak, Bouharrou, Mustapha, Hida
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Dermatology Errors of metabolism Farber Lipogranulomatosis - complications Farber Lipogranulomatosis - pathology Female Granuloma - etiology Granuloma - pathology Humans Infant, Newborn Infant, Newborn, Diseases - pathology Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Skin - pathology Skin Diseases - etiology Skin Diseases - pathology
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Beschreibung
Zusammenfassung:	: 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.
ISSN:	0736-8046 1525-1470
DOI:	10.1111/j.1525-1470.2008.00819.x