Vasculopathy with renal artery stenosis in a child with sarcoidosis

Gross, Katherine; Malleson, Peter N.; Culham, Gordon; Lirenman, David S.; McCormick, Andrew Q.; Petty, Ross E.

doi:10.1016/s0022-3476(86)81052-6

Cited by 44 publications

(19 citation statements)

References 6 publications

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“…Extension of the disease to involve large vessel vasculitis (granulomatous?) has also been reported [13][14][15] as well as granulomatous infiltration of the heart, lung, kidney, and liver [16] in terminal stages of the disease.…”

Section: Blau Syndrome: History and Clinical Aspectsmentioning

confidence: 90%

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Blau syndrome and related genetic disorders causing childhood arthritis

Becker¹,

Rosé

2005

Curr Rheumatol Rep

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Blau Syndrome (BS) is an inheritable disorder characterized by granulomatous polyarthritis, panuveitis, and exanthema. It was described by Edward Blau in 1985, the same year in which Douglas Jabs reported a very similar family. Clinically indistinguishable from early onset sarcoidosis (EOS), both are now known to share a mutated form of caspase recruitment domain-15 (CARD 15), a protein involved in activation of nuclear factor kappa B which is in turn an up-regulator of pro-inflammatory cytokine transcription. An association between BS and EOS was suspected for years given the striking similarities of the core triad (arthritis-uveitis-dermatitis) and a common emerging pattern of systemic involvement. Hence, the familial form (BS) and the sporadic form (EOS) are almost certainly the same illness/defect, inherited in the first and acquired in the second as a result in most cases of a de novo mutation. Another form of granulomatous arthritis with uveitis, Crohn's disease, has also been associated with mutations in CARD 15 (albeit at a different domain) and despite similar phenotypes there are obvious differences including gut inflammation and pyoderma gangrenosum in Crohn's disease. This paper will review the clinical characteristics of these three disorders and their association with mutations in the CARD 15 gene.

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Section: Blau Syndrome: History and Clinical Aspectsmentioning

confidence: 90%

“…Large vessel (granulomatous?) vasculitis has been seen in both [9,[13][14][15]. In all, these two conditions can be considered the same disease with a mutated variant of CARD 15 more prevalent in EOS (90%) than in BS (50%).…”

Section: Pathogenic Considerations and Conclusionmentioning

confidence: 99%

Blau syndrome and related genetic disorders causing childhood arthritis

Becker¹,

Rosé

2005

Curr Rheumatol Rep

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“…Although the association between large-vessel vasculitis and Blau syndrome was known before the genetic mutation was discovered [16][17][18][19][20] no direct evidence of such involvement was reported in the registry. Of note, however, two young patients from the registry developed severe systemic hypertension; although noninvasive vascular imaging could not demonstrate renovascular disease the response to angiotensin converting enzyme inhibitors was dramatic [14].…”

Section: Blau Syndrome: An Expanding Phenotypementioning

confidence: 99%

Blau syndrome revisited

Rosé

Martin

Wouters

2011

Current Opinion in Rheumatology

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“…52 They tend to be arranged in clusters or linear arrays but can become confluent, and a perifollicular distribution may be evident. 3,4,14,24,27,32,53,54 Intermittent episodes of widespread skin disease with spontaneous resolution usually occur during a period of years (in contrast to the more persistent skin lesions of sarcoidosis). Poikiloderma has been observed in older patients, 13,27 and pitted scars due to follicular atrophoderma are sometimes apparent at sites of previous inflammatory papules.…”

Section: Commentmentioning

confidence: 99%