| H01741 | |
| H number | H01741 |
| 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 |
| Network | - |
| Gene | PSMB8 [HSA:5696] [KO:K02740] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.6 ICD-10: D89.8 OMIM: 256040 |
| Reference | PMID:23711932 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 PMID:24131530 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 PMID:25017460 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 |