Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature - PubMed (original) (raw)

Review

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature

J Kluk et al. Br J Dermatol. 2014 Jan.

No abstract available

Figures

Figure 1

(a) Pedigree. The proband is marked by the arrow. (b) Periorbital erythema, hypertrichosis of the forehead and partial lipodystrophy. (c) Erythematous papules and larger annular and polycyclic erythematous plaques seen on the back.

Figure 2

(a) Punch biopsy demonstrating a heavy interstitial and perivascular dermal infiltrate (haematoxylin and eosin, magnification ×50). (b) The dermal infiltrate is composed of atypical mononuclear cells with hyperchromatic nuclei (myeloperoxidase positive) admixed with mature eosinophils, histiocytes and occasional neutrophils (haematoxylin and eosin, magnification ×400).

Comment in

Is CANDLE the best nomenclature?
Kanazawa N, Kunimoto K, Ishii N, Inamo Y, Furukawa F. Kanazawa N, et al. Br J Dermatol. 2014 Sep;171(3):659-60. doi: 10.1111/bjd.12962. Epub 2014 Aug 5. Br J Dermatol. 2014. PMID: 24628124 No abstract available.

References

1. Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62:489–95. - PubMed
1. Ramot Y, Czarnowicki T, Maly A, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol. 2011;28:538–41. - PubMed
1. Liu Y, Ramot Y, Torrelo A, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64:895–907. - PMC - PubMed
1. Arima K, Kinoshita A, Mishima H, et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo–Nishimura syndrome. Proc Natl Acad Sci USA. 2011;108:14914–19. - PMC - PubMed
1. Garg A, Hernandez MD, Sousa AB, et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab. 2010;95:E58–63. - PMC - PubMed

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature - PubMed (original) (raw)