Recurrent erythematous plaques on sun-exposed sites in an African American boy with chronic granulomatous disease

Turegano, Mamina M.; Lee, Chyi‐Chia Richard; Malech, Harry L.; Ravin, Suk See De; Cowen, Edward W.; Brownell, Isaac

doi:10.1016/j.jaad.2013.09.051

Cited by 7 publications

(8 citation statements)

References 33 publications

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“…Our second patient had an absolute deficiency of functional neutrophils, but the development of DLE‐like lesions was directly related to voriconazole, the fourth such case reported . Voriconazole‐related DLE has been reported only once outside the population with CGD .…”

Section: Discussionmentioning

confidence: 63%

“…Both patients had lesions clinically resembling DLE, with histologic features supporting but not entirely classic for DLE, and without ANA positivity or other evidence of systemic lupus erythematosus (SLE). Over the past 40 years there have been reports of 51 other individuals with CGD or carriers with similar DLElike lesions, most with some histologic features of DLE but negative DIF (3)(4)(5)(6)(7)(8)(9)(10)(11). These lesions tend to occur in a subset of the population with CGD; 40 were female carriers of X-linked CGD (3-7), 5 were individuals with autosomal recessive CGD (7), and 3 were related to voriconazole use (two of these had Xlinked CGD) (9,10).…”

Section: Discussionmentioning

confidence: 99%

“…Over the past 40 years there have been reports of 51 other individuals with CGD or carriers with similar DLElike lesions, most with some histologic features of DLE but negative DIF (3)(4)(5)(6)(7)(8)(9)(10)(11). These lesions tend to occur in a subset of the population with CGD; 40 were female carriers of X-linked CGD (3-7), 5 were individuals with autosomal recessive CGD (7), and 3 were related to voriconazole use (two of these had Xlinked CGD) (9,10). Despite X-linked being the most common form of CGD, there have been only reports of three individuals with X-linked CGD developing DLE-like lesions without any identified trigger (8,11).…”

Section: Discussionmentioning

confidence: 99%

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Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease—Report of Two Cases and Review of the Literature

Xie

Cole

McLean

et al. 2016

Pediatric Dermatology

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Discoid lupus erythematosus (DLE) is known to be associated with chronic granulomatous disease (CGD), but most DLE occurs in female carriers of X-linked CGD, with few reports of these lesions in CGD-affected individuals--this observation is unexplained. We describe two cases of DLE-like lesions in boys with CGD: one boy with partial neutrophil function and another whose lesions were related to voriconazole use. Reviewing other previously reported cases, we conclude that the risk of developing DLE-like lesions appears to be greater primarily in two subsets of the population with CGD: those with partial neutrophil function and those with near-absent neutrophil function in whom there is a second trigger. In light of recent literature on the role of neutrophils in lupus pathogenesis, we propose that pathogenesis of DLE in CGD may be related to NETosis, neutrophil dysfunction and a deficiency of reactive oxygen species, which medications such as voriconazole also influence.

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Section: Discussionmentioning

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease—Report of Two Cases and Review of the Literature

Xie

Cole

McLean

et al. 2016

Pediatric Dermatology

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“…29 Having in mind the death of one case due to infection despite receiving treatment, management of patients with CGD requires meticulous attention. The adverse effects of therapies used for patients with CGD is also of great importance, as studies suggest that combination of voriconazole and SMX-TMP can exacerbate photosensitivity and predispose these patients to higher risk of LE 30,31 Therefore, despite being rare, patients with CGD and carriers need further investigations and routine follow-up.…”

Section: Discussionmentioning

confidence: 99%

Lupus Erythematosus and Chronic Granulomatous Disease: Report of Four Iranian Patients with AR-CGD and One XL-CGD

Maddah

Fazlollahi

Shiari

et al. 2019

IJAAI

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Chronic granulomatous disease (CGD) is a rare genetic disorder of neutrophil activity, resulting in increased rate of recurrent infections with catalase–positive bacteria and fungi, as well as various autoimmune diseases such as sarcoidosis, rheumatoid arthritis, and discoid and/or systemic lupus erythematosus. Few reports have reported lupus erythematosus (LE) in patients with X–linked CGD (XL-CGD) and carriers, and very few in autosomal recessive CGD (AR-CGD). Here, we present 5 patients with CGD developing LE at different ages to emphasize on the importance of appropriate follow–up and treatment in patients with CGD with clinical signs and symptoms of autoimmune diseases and even in those with negative serologic results.

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“…This triazole antifungal agent is active against both A. fumigatus and A. nidulans , the most frequent fungal pathogens observed in CGD, and has good central nervous system (CNS) penetration making it the first line of treatment as well in CNS aspergillosis. However voriconazole is not without limitations; in keeping with other azoles the pharmacokinetics are unpredictable and non-linear, necessitating therapeutic drug monitoring (TDM); short and long-term side-effects including visual disturbances; significant drug interactions; solar hypersensitivity and the risk of skin malignancy [ 44 , 60 , 61 , 62 ].…”

Section: Treatmentmentioning

confidence: 99%

Aspergillosis in Chronic Granulomatous Disease

King

Henriet

Warris

2016

JoF

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Patients with chronic granulomatous disease (CGD) have the highest life-time incidence of invasive aspergillosis and despite the availability of antifungal prophylaxis, infections by Aspergillus species remain the single most common infectious cause of death in CGD. Recent developments in curative treatment options, such as haematopoietic stem cell transplantation, will change the prevalence of infectious complications including invasive aspergillosis in CGD patients. However, invasive aspergillosis in a previously healthy host is often the first presenting feature of this primary immunodeficiency. Recognizing the characteristic clinical presentation and understanding how to diagnose and treat invasive aspergillosis in CGD is of utmost relevance to improve clinical outcomes. Significant differences exist in fungal epidemiology, clinical signs and symptoms, and the usefulness of non-culture based diagnostic tools between the CGD host and neutropenic patients, reflecting underlying differences in the pathogenesis of invasive aspergillosis shaped by the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase deficiency.

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Recurrent erythematous plaques on sun-exposed sites in an African American boy with chronic granulomatous disease

Cited by 7 publications

References 33 publications

Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease—Report of Two Cases and Review of the Literature

Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease—Report of Two Cases and Review of the Literature

Lupus Erythematosus and Chronic Granulomatous Disease: Report of Four Iranian Patients with AR-CGD and One XL-CGD

Aspergillosis in Chronic Granulomatous Disease

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