Intractable leg ulcers in Blau syndrome

Kamio, Yoshiyuki; Kanazawa, Nobuo; Mine, Yoshikazu

doi:10.1111/1346-8138.13345

Cited by 7 publications

(8 citation statements)

References 4 publications

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“…Rare cases of granulomatous vasculitis have also been reported in classical sarcoidosis . Presence of vasculitis in BS has been suggested in some case reports clinically mimicking Takayasu or skin lesions such as a palpable purpura, papules with urticaria and a livedo . However, only one of these reports (presenting as urticaria) was documented histologically and showed a leukocytoclasic vasculitis .…”

Section: Discussionmentioning

confidence: 99%

“…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. To our knowledge, available data on EN observed in BS patients in the literature were never confirmed histologically.…”

Section: Discussionmentioning

confidence: 99%

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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%

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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“…In order of frequency, these included mildly scaly eczematoid change, erythema nodosum, papuloerythematous and icthyosiform eruptions, and leucocytoclastic vasculitis. Rarely reported cutaneous features include acute pityriasis lichenoides and leg ulceration …”

Section: Discussionmentioning

confidence: 99%

“…Rarely reported cutaneous features include acute pityriasis lichenoides and leg ulceration. 5 In the study by Rose et al, more than two-thirds of patients received medical therapy, often combinations of systemic steroids, immunosuppressive and/or biologic drugs. Despite this, 70% continued to have evidence of active arthritis, 61% vitreous inflammation and 35% anterior uveitis.…”

Section: P Dmentioning

confidence: 99%