Early-onset hypoparathyroidism and chronic keratitis revealing APECED.
Early diagnosis of potentially life-threatening autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical history showing a mild and transient Candida infection.
Pediatric Nephrology, Rheumatology, Dermatology Unit, Femme Mère Enfant Hospital, Hospices Civils de Lyon, University Lyon I Lyon, France.
Ellia
E
Mezgueldi
Pediatric Nephrology, Rheumatology, Dermatology Unit, Femme Mère Enfant Hospital, Hospices Civils de Lyon, University Lyon I Lyon, France.
Aurélia
A
Bertholet-Thomas
Pediatric Opthalmology Unit, CHU d'Amiens-Picardie Amiens, France.
Solange
S
Milazzo
Synlab Lausanne, Switzerland.
Michael
M
Morris
Pediatric Nephrology, Rheumatology, Dermatology Unit, Femme Mère Enfant Hospital, Hospices Civils de Lyon, University Lyon I Lyon, France.
Justine
J
Bacchetta
Department of Immunology, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Claude Bernard University Lyon I Lyon, France.
Nicole
N
Fabien
Pediatric Nephrology, Rheumatology, Dermatology Unit, Femme Mère Enfant Hospital, Hospices Civils de Lyon, University Lyon I Lyon, France ; IBCP-FRE 3310, CNRS Lyon, France.
Pierre
P
Cochat
Department of Human Metabolism, University of Sheffield Sheffield, UK.
Anthony P
AP
Weetman
Department of Human Metabolism, University of Sheffield Sheffield, UK.
Elizabeth Helen
EH
Kemp
Pediatric Nephrology, Rheumatology, Dermatology Unit, Femme Mère Enfant Hospital, Hospices Civils de Lyon, University Lyon I Lyon, France ; INSERM U1111 Lyon, France.
Alexandre
A
Belot
AIRE; APECED; hypocalcaemia; hypoparathyroidism; keratitis