Cutaneous granulomas associated with primary immunodeficiency disorders

Abstract

Cutaneous granulomas are uncommon in primary immunodeficiency disorders. We report cutaneous granulomas in a child with ataxia telangiectasia (AT) and compare the clinical course with similar lesions in an adult with common variable immunodeficiency (CVI). A 4-year-old female with AT developed cutaneous granulomas as erythematous plaques. The largest lesion appeared on her left cheek and continued to progress despite treatment with topical and intralesional steroids. Disease control was obtained initially with oral antibiotics and low-dose oral steroids. On cessation of oral steroids, significant relapse of the facial granuloma occurred. Pulsed and then oral steroids were required to stop the disease process leaving significant scarring. The second case is of cutaneous granulomas in a 66-year-old man, with CVI, who presented with an erythematous reticulate rash on the legs. We consider it useful to report this patient here as disease control was obtained in a similar way with systemic immunosuppression. In this patient a combination of oral steroids and azathioprine was used. These cutaneous granulomas are thought to be a manifestation of immune dysregulation. No infectious cause has been found so far. We recommend the use of broad-spectrum antibiotics in conjunction with systemic steroids for progressive granulomas, as these patients are immunosuppressed and infection with an unidentified organism cannot be excluded.

Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation?

“…Topical steroids and oral antibiotics did not alter the course of the disease though topical steroids decreased the erythema and scaling of lesions in 2 patients [4,5]. Oral steroids in combination with oral antibiotics resulted in slow control in 1 patient in the literature; however, the lesions relapsed after cessation of steroids [12]. Similar control and relapse with the discontinuation of oral steroids was also noted in our fourth patient.…”

“…Included were all primary publications published in English, German and French. Ten primary reports were found describing cutaneous granulomas in A-T [4,5,6,7,8,9,10,11,12,13] and a series of articles reporting skin granulomas in other PIDs [14,15,16,17,18,19,20,21,22,23,24,25,26]. For common variable immunodeficiency (CVID), often associated with granulomas in various organs, only the recently published article of Ardeniz and Cunningham-Rundles [23] dealing with skin granulomas was included.…”

“…We traced in the literature 17 reported A-T patients with cutaneous granulomas [4,5,6,7,8,9,10,11,12,13] (table 2). There was a female preponderance (13 females, 4 males) compared with equal sex distribution in A-T patients in general.…”

Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti–TNF-α mAbs

“…Topical steroids, systemic steroids, or both can be effective but sometimes produce severe side effects and significant relapse on withdrawal. 42 Infliximab's efficacy has been demonstrated in a variety of autoimmune and granulomatous inflammatory disorders, including Crohn disease 43 and sarcoidosis, 44 as well as in patients with Blau syndrome. 45 Furthermore, some patients with CVID with severe granulomatous disease who did not respond to corticosteroids showed an improvement on treatment with infliximab 46,47 or etanercept (a soluble TNF-a receptor inhibitor), 48 whereas 2 other patients with CVID with lung granulomas did not respond to TNF-a inhibitors.…”

Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia

“…1 We have described a case of severe progressive cutaneous granulomas in a child with ataxia telangiectasia (AT), which was initially controlled with systemic steroids. 2 We now report the necessary regular use of infliximab in this child for the past 3 years.…”