CANDLE SYNDROME: Orofacial manifestations and dental implications

A South African girl with CANDLE Syndrome is reported with emphasis on the orodental features and dental management. Clinical manifestations included short stature, wasting of the soft tissue of the arms and legs, erythematous skin eruptions and a prominent abdomen due to hepatosplenomegaly. Generalized microdontia, confirmed by tooth measurement and osteopenia of her jaws, confirmed by digitalized radiography, were previously undescribed syndromic components. Intellectual impairment posed problems during dental intervention. The carious dental lesions and poor oral hygiene were treated conservatively under local anaesthetic. Prophylactic antibiotics were administered an hour before all procedures. Due to the nature of her general condition, invasive dental procedures were minimal. Regular follow-ups were scheduled at six monthly intervals. During this period, her overall oral health status had improved markedly. The CANDLE syndrome is a rare condition with grave complications including immunosuppression and diabetes mellitus. As with many genetic disorders, the dental manifestations are often overshadowed by other more conspicuous and complex syndromic features. Recognition of both the clinical and oral changes that occur in the CANDLE syndrome facilitates accurate diagnosis and appropriate dental management of this potentially lethal condition. Background The CANDLE syndrome [MIM256040] is a rare autosomal recessive disorder in which autoinflammatory processes lead to multisystem complications. The acronym “CANDLE” pertains to Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature. Other variable features include intellectual disability and short stature. Published reports are scanty and apart from macroglossia [1] no other oro-dental features have been mentioned in the literature. The CANDLE syndrome, which is classified as a proteasome-associated autoinflammatory syndrome (PRAAS), and known as the Nakajo-Nishimura syndrome (NKJO) was delineated in 1939 by Nakajo, a medical staff member at Tohoku University in Japan. The initial syndromic features included erythematous skin lesions, clubbed fingers, periosteal thickening and cardiac insufficiency [2]. Thereafter, Nishimura et al. [3] expanded the phenotype to include hypertrophic pulmonary osteoarthropathy. Additional phenotypic features which have been reported included prominent eyes, enlarged nose and lips; elongated, broad fingers; gross wasting of the arms and legs, severe joint pains and fever that were alleviated by the use of steroids; muscle atrophy and weakness; mild mental retardation; hepatomegaly; macroglossia; short stature and calcifications of the basal ganglia are other documented syndromic manfestations [1, 4–6]. Garg et al., [7] described a syndrome with similar features to NKJO and coined the term “Joint contractures, Muscular Atrophy, Microcytic anemia, and Panniculitisinduced Lipodystrophy (JMP) syndrome”. The main difference between the NKJO and JMP syndromes is the absence of fever in JMP syndrome and the absence of seizures in NKJO [6]. Toretello et al. [8] subsequently proposed the acronym “CANDLE” and drew attention to the fact that affected persons were homozygous for an autosomal recessive gene. In a further significant development, Wang et al. 2014 [9] suggested that the CANDLE syndrome, NakajoNishimura syndrome and JMP syndrome may be clinical variants of the same * Correspondence: [email protected] Faculty of Dentistry, University of the Western Cape, Private Bag X08, Mitchell’s Plain, 7785 Cape Town, South Africa Full list of author information is available at the end of the article © 2016 Roberts et al. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Roberts et al. Head & Face Medicine (2015) 11:38 DOI 10.1186/s13005-015-0095-4