ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
CANDLE syndrome
Print
Other Resources UpToDate PubMed

CANDLE syndrome

Print Images (1)
Contributors: Vivian Wong MD, PhD, Sepideh Ashrafzadeh, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an extremely rare, autosomal recessive autoinflammatory disorder that often presents in early infancy.

It is one of a group of proteasome-associated autoinflammatory syndromes (PRAAS) that have in common recurrent fevers, variable rash, anemia, elevated acute phase reactants, and autoimmune manifestations. CANDLE syndrome is autosomal recessively inherited in patients with PSMB8 or PSMB4 gene mutations, and is autosomal dominantly inherited in patients with POMP gene mutations. Mutations in these proteosome genes lead to defective proteasome function and subsequent accumulation of modified and oxidized proteins that cause increased cellular stress, interferon signaling, and apoptosis.

CANDLE syndrome comprises the constellation of recurrent (often daily) fevers, a distinctive cutaneous eruption, lipodystrophy, internal organ involvement, and elevated acute phase reactants. More than 50 cases have been identified worldwide. Most patients are of Northern European or Hispanic descent. Cases have also been reported in Japan and South Africa.

Affected children present in the first 6 months of life with recurrent (often daily) fevers as well as recurrent edematous, erythematous plaques that occur in a periorbital location and elsewhere over the face and trunk. These plaques may become annular and violaceous and may leave purpuric macules or postinflammatory hyperpigmentation in their wake. Subsequently, delayed development, internal organ involvement, lipodystrophy, and elevated acute phase reactants become evident. Other characteristic facial features include edematous lips and loss of facial fat.

For more information, see OMIM.

Codes

ICD10CM:
M04.8 – Other autoinflammatory syndromes

SNOMEDCT:
724834006 – Neutrophilic dermatosis

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Other PRAAS:
  • Nakajo-Nishimura syndrome (NNS)
  • Japanese autoinflammatory syndrome with lipodystrophy (JASL)
  • Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome 
Also consider:

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 01/28/2019
Last Updated: 02/25/2019
Copyright © 2019 VisualDx®. All rights reserved.
CANDLE syndrome
Print 1 Images
CANDLE syndrome : Hepatosplenomegaly, Joint contractures, Short stature, Widespread, Anemia, CRP elevated, ESR elevated, Developmental delay, Annular configuration, Erythematous or violaceous plaques
Copyright © 2019 VisualDx®. All rights reserved.