A Novel Mutation in Helical Domain 2 of <i>NOD2</i> in Sporadic Blau Syndrome

Jain, Lubhani; Gupta, Namrata; Reddy, Mamatha M.; Mittal, Ruchi; Barik, Manas Ranjan; Panigrahi, Bharat; Monie, Tom P.; Basu, Soumyava

doi:10.1080/09273948.2016.1207789

Cited by 9 publications

(4 citation statements)

References 6 publications

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“…However, dermatological assessment and granulomatous histology rectified the diagnosis to granulomatous panniculitis. Subcutaneous nodules have also been described in the literature . The term EN, which is often used in the BS literature to describe these lesions, corresponds histologically to septal panniculitis which, per definition, must not be granulomatous.…”

Section: Discussionmentioning

confidence: 99%

Early‐onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome

Poline

Fogel²,

Pajot

et al. 2019

Acad Dermatol Venereol

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Background Blau syndrome (BS) is a rare monogenic autoinflammatory disease caused by NOD2 mutations. BS classically presents in early childhood as a triad of granulomatous polyarthritis, uveitis and skin involvement. Joint and ocular involvement have been characterized by several cohort studies but only very little data are available on skin lesions. Objectives We aimed to provide a detailed clinical and microscopic analysis of skin manifestations and to study whether they may contribute to an early diagnosis. Methods We conducted a retrospective multicentre study in a French cohort of 21 patients diagnosed with genetically confirmed BS. Results Skin involvement was the first clinical manifestation of BS in 15/16 patients with dermatological manifestations. The presence of skin lesions was associated with significant shorter age at diagnosis (P = 0.03) and diagnostic delay (P = 0.04). Dermatological assessment allowed an earlier diagnosis (P = 0.001) and reduces the diagnostic delay (P = 0.007). Early skin lesions had a homogeneous, stereotypical clinical presentation, namely non‐confluent erythematous or pigmented millimetric papules in 13/14(93%) patients. In contrast, skin lesions occurring during later disease stages had a more heterogeneous clinical presentation, including ichthyosiform dermatosis, panniculitis, livedoid lesions and vasculitis. Whatever their time of occurrence and the clinical aspect, all biopsied showed histologically presence of granuloma. Conclusion Skin involvement in BS is the earliest clinical manifestation of the BS in the large majority of patients. The recognition of dermatological manifestations as granulomatous skin lesions and early dermatological expertise are the key to an early diagnosis of BS. In view of our results, it seems reasonable to propose a simplified view of skin lesions of BS in which the granuloma is the key structure.

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Section: Discussionmentioning

confidence: 99%

Early‐onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome

Poline

Fogel²,

Pajot

et al. 2019

Acad Dermatol Venereol

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“…Though early onset sarcoidosis has been reported from India, to the best of our knowledge this is the first case series of molecularly confirmed familial BS from India. [67]…”

Section: Discussionmentioning

confidence: 99%

Familial Blau syndrome:First molecularly confirmed report from India

Janarthanan

Poddar

Sridharan

et al. 2019

Indian J Ophthalmol

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Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients – the first such molecularly proven case report of familial BS from India.

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“…[ 2 ] Till date, 13 NOD2 gene mutations causing BS have been described. [ 3 4 ] Those not associated with any known gene mutations have been termed sporadic BS/early-onset sarcoidosis. [ 5 ] Uveitis in BS is in the form of progressive panuveitis with multifocal choroiditis.…”

Section: Discussionmentioning

confidence: 99%

Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab

Naik

Annamalai

Biswas

2018

Indian J Ophthalmol

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The classic entity of autosomal dominant Blau syndrome (BS) consists of arthritis, dermatitis, and uveitis, occurring as a result of mutations in the NOD2 gene pattern recognition receptor. Sporadic cases are those in which no known gene mutation is identifiable. Uveitis in BS can be refractory to conventional therapy. We report a case of sporadic Blau uveitis managed with adalimumab monotherapy after failing to respond to topical steroids, systemic steroids, methotrexate, and infliximab therapy sequentially. Uveitis resolved completely with adalimumab and the patient has had a disease-free period over a 2-year follow-up with bi-monthly injections for arthritis control.

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A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome

Cited by 9 publications

References 6 publications

Early‐onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome

Early‐onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome

Familial Blau syndrome:First molecularly confirmed report from India

Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab

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