eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hyperthermia |
| Comorbidity | C0037274|dermatosis |
| Sentences | 10 |
| PubMedID- 26524591 | Autosomal recessive mutations in proteasome subunit beta 8 (psmb8), which encodes the inducible proteasome subunit beta5i, cause the immune-dysregulatory disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle), which is classified as a proteasome-associated autoinflammatory syndrome (praas). |
| PubMedID- 26091509 | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle) syndrome is a newly characterized autoinflammatory disorder, caused by mutations in psmb8. |
| PubMedID- 20159315 | We propose the acronym candle (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome for this newly described disorder, which is probably genetic in origin. |
| PubMedID- 21953331 | Objective: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle syndrome) is an autoinflammatory syndrome recently described in children. |
| PubMedID- 22508923 | Three of these had chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, caused by mutations in the psmb8 gene. |
| PubMedID- 26238708 | Newer autoinflammatory diseases, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle) and stimulator of interferon genes (sting)-associated vasculopathy with onset in infancy (savi) are, however, driven by interferons. |
| PubMedID- 25521013 | Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle) syndrome, nakajo-nishimura syndrome (nns), joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (jmp) syndrome, and japanese autoinflammatory syndrome with lipodystrophy (jasl), have been used to categorize patients with diseases within the same spectrum. |
| PubMedID- 20553399 | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. |
| PubMedID- 24001180 | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature. |
| PubMedID- 25243162 | Syndromes included are "circumferential skin creases kunze type" and "unusual type of pachyonychia congenita or a new syndrome"; autoinflammatory diseases include "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle) syndrome," "pyoderma gangrenosum, acne, and hidradenitis suppurativa (pash) syndrome," and "pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (papash) syndrome"; tumors include "acquired reactive digital fibroma," "onychocytic matricoma and onychocytic carcinoma," "infundibulocystic nail bed squamous cell carcinoma," and "acral histiocytic nodules"; unclassified disorders include "saurian papulosis," "symmetrical acrokeratoderma," "confetti-like macular atrophy," and "skin spicules," "erythema papulosa semicircularis recidivans." hospital, diskapi, 06110 ankara, turkey. |
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