Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members
نویسندگان
چکیده
منابع مشابه
Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members
Results The index case was a 10 year old Afro-Caribbean boy who initially presented with a non-progressive developmental delay and severe chilblains (the chilblains improved with methotrexate). He developed transient acute ataxia and flattened affect, with visual and auditory hallucinations. Parotid swelling, arthritis and proximal myopathy were noted, but autoantibodies were negative and compl...
متن کاملClinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupus
Background Aicardi-Goutières syndrome (AGS) is a genetic disease, characterized by encephalopathy with cerebral calcification, white matter abnormalities, cerebral atrophy, elevated interferon-alpha in the cerebrospinal fluid and chilblain. Most of AGS patients have severe neurological findings including developmental delay. Five genes, namely TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1 have be...
متن کاملNew roles for the major human 3'-5' exonuclease TREX1 in human disease.
Aicardi-Goutières syndrome (AGS), Systemic Lupus Erythematosus (SLE), Familial Chilblain Lupus (FCL) and Retinal Vasculopathy and Cerebral Leukodystrophy (RVCL) {a new term encompassing three independently described conditions with a common etiology--Cerebroretinal Vasculopathy (CRV), Hereditary Vascular Retinopathy (HVR) and Hereditary Endotheliopathy, Retinopathy and Nephropathy (HERNS)}--hav...
متن کاملCutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.
We report a 2-year-old girl with developmental delay who, from the age of 1 year, developed perniotic lesions of the hands and feet initially diagnosed as chilblain lupus. Histological examination showed features of epidermal necrosis with intraepidermal bulla formation, interface dermatitis, lymphocytic vasculitis with fibrinoid necrosis and thrombi formation, both superficial and deep dermal ...
متن کاملBlue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutières syndrome and familial chilblain lupus.
et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? Pediatr Dermatol 2006;24:101-7. 5. El-Darouti MA, Marzouk SA, Abdel-Halim MR. MuckleeWells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. Int J Dermatol 2006;45:239-44. 6. Jilka RL, Hangoc G, Girasole G, Passeri G, Williams DC, Abrams JS, et al. ...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2011
ISSN: 1546-0096
DOI: 10.1186/1546-0096-9-s1-p283