PedAM

Pediatric Disease Annotations & Medicines

Disease	lipodystrophy
Phenotype	C0037274\|dermatosis
Sentences	15
PubMedID- 20159315	Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle) syndrome.
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- 25036278	Candle syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations.
PubMedID- PMC3952134	The mutation in the psmb8 gene encoding immunoproteasome subunit β type 8 causes a number of clinical syndromes that described as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle) syndrome and nakajo-nishimura syndrome (nns).
PubMedID- 24001180	Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature.
PubMedID- 22508923	Three of these had chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, caused by mutations in the psmb8 gene.
PubMedID- 21953331	Objective: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle syndrome) is an autoinflammatory syndrome recently described in children.
PubMedID- 24490108	Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle syndrome) is a recently described autoinflammatory syndrome [77].
PubMedID- 20553399	Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome is a recently described chronic inflammatory syndrome consisting of widespread annular violaceous skin lesions and multisystemic inflammatory manifestations.
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- 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- 26091509	Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle) syndrome is a newly characterized autoinflammatory disorder, caused by mutations in psmb8.
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.
PubMedID- 23827250	It discusses pharyngitis, and cervical adenitis and the monogenic autoinflammatory diseases that cause recurrent fevers including familial mediterranean fever, hyper-immunoglobulin (ig) d and periodic fever syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin associated periodic syndromes, deficiency of interleukin-36 receptor antagonist, majeed syndrome, chronic atypical neutrophilic dermatosis with lipodystrophy and increased temperature syndrome, and deficiency of the interleukin-1 receptor antagonist.
PubMedID- 26137574	Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (candle) syndrome (omim 256040) is a monogenic autoinflammatory syndrome that was initially described in 2010 (torrelo et al., 2010).

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