Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutières syndrome and familial chilblain lupus.
نویسندگان
چکیده
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. Increased osteoclast development after estrogen loss: mediation by interleukin-6. Science 1992;257:88-91. 7. Berthelot JM, Maugars Y, Robillard N, Pascal O, Stalder JF, David A, et al. Autosomal dominant MuckleeWells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family. Am J Med Genet 1994;53:72-4.
منابع مشابه
Cutaneous 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 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 کاملPhenotypic 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 کاملAicardi–Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion
Maintaining genome integrity is important for cells and damaged DNA triggers autoimmunity. Previous studies have reported that Three-prime repair exonuclease 1(TREX1), an endogenous DNA exonuclease, prevents immune activation by depleting damaged DNA, thus preventing the development of certain autoimmune diseases. Consistently, mutations in TREX1 are linked with autoimmune diseases such as syst...
متن کاملFamilial chilblain lupus caused by an activating mutation in STING
Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus characterized by coldinduced cutaneous lesions at acral location. It is caused by loss-of-function mutations in the nucleic acid metabolizing enzymes TREX1 or SAMHD1. Gain-of-function mutations in STING (stimulator of Interferon genes) have been described in an infancy-onset autoinflammatory syndrome with fever, infla...
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ورودعنوان ژورنال:
- Journal of the American Academy of Dermatology
دوره 61 4 شماره
صفحات -
تاریخ انتشار 2009