KEGG   DISEASE: Autoinflammation lipodystrophy and dermatosis syndromeHelp
Entry
H01741                      Disease                                

Name
Autoinflammation lipodystrophy and dermatosis syndrome;
Proteasome associated autoinflammatory syndromes (PRAAS);
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome;
Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP);
Japanese autoinflammatory syndrome with lipodystrophy (JASL)
Description
Autoinflammation lipodystrophy and dermatosis syndrome (ALDD) is a systemic inflammatory condition characterized by recurrent episodes of fever, cutaneous lesions, lipodystrophy, and visceral inflammatory manifestations. In 2011, several studies showed that a number of disorders referred to as joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome, Nakajo-Nishimura syndrome, Japanese autoinflammatory syndrome with lipodystrophy (JASL), and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome are caused by mutations in proteasome subunit beta type 8 (PSMB8) gene, indicating that these disorders are disease phenotypes along the same disease spectrum. Key symptoms include a persistent fever (higher than 38.5 degrees Celsius), steroid-sensitive erythema nodosum-like (edematous and purpuric) plaques, long clubbed fingers, hyperhidrosis, myositis, hepatosplenomegaly, macroglossia, facial and limbs lipoatrophy, and developmental (height, weight, and IQ) retardation. Skin biopsies show immature myeloid-lineage cells with mitoses. Some patients may have joint contracture, auricular and nasal chondritis, and calcification of the basal ganglia. Acute cardiovascular event is the leading cause of death in these patients for whom life expectancy is notably reduced. Management of these patients is by palliative care. The need for steroids is very high even in combination with anti IL-1, anti IL-6 or anti-TNF treatments.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01741  Autoinflammation lipodystrophy and dermatosis syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01741  Autoinflammation lipodystrophy and dermatosis syndrome
BRITE hierarchy
Pathway
hsa03050  Proteasome
Gene
PSMB8 [HSA:5696] [KO:K02740]
Other DBs
ICD-11: LD27.6
ICD-10: D89.8
OMIM: 256040
Reference
  Authors
Almeida de Jesus A, Goldbach-Mansky R
  Title
Monogenic autoinflammatory diseases: concept and clinical manifestations.
  Journal
Clin Immunol 147:155-74 (2013)
DOI:10.1016/j.clim.2013.03.016
Reference
  Authors
Touitou I, Galeotti C, Rossi-Semerano L, Hentgen V, Piram M, Kone-Paut I
  Title
The expanding spectrum of rare monogenic autoinflammatory diseases.
  Journal
Orphanet J Rare Dis 8:162 (2013)
DOI:10.1186/1750-1172-8-162
Reference
  Authors
Davila-Seijo P, Hernandez-Martin A, Torrelo A
  Title
Autoinflammatory syndromes for the dermatologist.
  Journal
Clin Dermatol 32:488-501 (2014)
DOI:10.1016/j.clindermatol.2014.02.004

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