Background: CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome is a recently described autoinflammatory disease that manifests in early infancy with recurrent fever, violaceous swelling of the eyelids, purpuric skin lesions, hypochromic anemia and elevated acute phase reactants. It is autosomal recessively inherited and associated with partial lipodystrophy, growth retardation and hepatomegaly. PSMB8 (proteasome subunit β type 8) mutation was identified in majority of the cases.
Objective and hypotheses: To define clinical and laboratory characteristics of CANDLE syndrome.
Method: A 14-year-old girl was admitted due to short stature with a history of growth hormone therapy for 2 years without sufficient response. She was suffering from rash, recurrent fever and finger swelling, hepatosplenomegaly and cytopenia since 23 months of age without any drug treatment. Her mental motor development was normal. She was born to non-consanguineous parents from the same village after an uneventful term pregnancy. Physical examination revealed severe growth retardation (weight, 27.4 kg, SDS −4.24; height, 136.5 cm, SDS −3.57), lipodystrophy of face and limbs, hepatosplenomegaly, minimal joint contractures in the fingers, pubic hair and breast development consistent with Tanner stage II. Laboratory findings disclosed hypochromic microcytic anemia, hypertriglyceridemia, elevated ferritin levels, asymmetric thinning and signal changes of fat tissue with whole body MRI, and no insulin resistance.
Results: The presumed diagnosis of CANDLE syndrome was confirmed with demonstration of mainly neutrophilic inflammation of the fat tissue in skin biopsy. Methylprednisolone treatment resulted in cessation of episodes of fever and rash. PSMB8 mutation and whole exome sequencing was negative. Whole genome sequencing analysis is planned.
Conclusion: Lipodystrophy syndromes are a group of heterogeneous diseases. Patients with growth retardation, skin rashes and signs of inflammation should be searched for lipodystrophy and CANDLE syndrome should be kept in mind.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology