CANDLE Syndrome
History and first discovery. The name CANDLE (chronic, atypical, neutrophilic dermatosis with lipodystrophy, and elevated temperature) syndrome was first used in 2010 to depict a clinical constellation of features in four children, three female and one ma
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Contents Other Names . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Definition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Etiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 Clinical Manifestations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Diagnosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Management . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4
Syndrome OMIM number: NA Affected Gene/Chromosome: PSMB8, PSMB4, PSMB9, PSMA3, POMP Gene OMIM number: NA
• ALDD (Auto-inflammation, lipodystrophy, and dermatitis)
Definition Other Names • JMP (joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome) • Nakajo-Nishimura syndrome • PRAS (Proteasome-associated autoinflammatory syndrome)
A. Torrelo (*) Hospital Infantil Universitario Nino Jesus de Madrid, Madrid, Spain e-mail: [email protected] © Springer Nature Switzerland AG 2020 N. Rezaei (ed.), Genetic Syndromes, https://doi.org/10.1007/978-3-319-66816-1_23-1
History and first discovery. The name CANDLE (chronic, atypical, neutrophilic dermatosis with lipodystrophy, and elevated temperature) syndrome was first used in 2010 to depict a clinical constellation of features in four children, three female and one male, including two siblings (Torrelo et al. 2010). They featured early-onset, unique skin lesions with infiltration of immature, myeloid, mononuclear cells, resembling leukemia cutis on histopathology. Other features included recurrent fevers, general growth delay, and progressive loss of fat in the upper part of the body. Through their lives, all patients had suffered unexplained inflammatory attacks in many different organs of the body. 1
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Also, in 2010, three adults with prominent lipodystrophy, joint contractures, and long-standing disease were reported under the name JMP ( joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome) (Garg et al. 2010); skin lesions were not mentioned in the description. In the Japanese literature, Nakajo (1939) and Nishimura (1950) had reported patients with “secondary hypertrophic osteoperiostosis with pernio,” “a syndrome with nodular erythema, elongated and thickened fingers, and emaciat
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