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Your search keyword '"Adalsteinsson JA"' showing total 2 results
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2 results on '"Adalsteinsson JA"'

1. Oral candidiasis and seborrheic dermatitis in an 8-year-old female with a heterozygous variant of the IL-17RC gene.

Author

Bentivegna K, Adalsteinsson JA, and Chang MW

Subjects
Female, Humans, Child, Candida, Candidiasis, Oral pathology, Dermatitis, Seborrheic genetics, Malassezia, Candidiasis, Chronic Mucocutaneous genetics
Abstract

An 8-year-old female with chronic oral candidiasis and severe seborrheic dermatitis was found to have a heterozygous mutation (p.R14X c.40 C>T) of the IL-17RC gene, which was predicted to possibly represent a new pathogenic variant via truncation or nonsense-mediated mRNA decay. Given previously reported IL-17RC-related disorders are autosomal recessive, we would expect an affected individual to have two mutated alleles whereas our patient was heterozygous. Given the overlapping clinical picture, this variant could be responsible for altered immunity against both Candida and Malassezia species. This is the first report to our knowledge of chronic oral candidiasis and severe seborrheic dermatitis in a patient with a heterozygous variant (p.R14X c.40 C>T) for the IL-17RC gene., (© 2023 Wiley Periodicals LLC.)

Published
2023
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2. Distinguishing annular pustular psoriasis from subcorneal pustular dermatosis-A diagnostic dilemma in a 10-year-old boy.

Author

Masison J, Adalsteinsson JA, and Chang MW

Subjects
Male, Humans, Child, Skin pathology, Adalimumab therapeutic use, Blister pathology, Psoriasis diagnosis, Psoriasis drug therapy, Psoriasis pathology, Skin Diseases, Vesiculobullous diagnosis, Skin Diseases, Vesiculobullous drug therapy, Skin Diseases, Vesiculobullous pathology
Abstract

Subcorneal pustular dermatosis (SPD) and annular pustular psoriasis (APP) are very rare in childhood and difficult to differentiate both clinically and histopathologically. We report the case of a 10-year-old male with a 9-year history of erythematous scaly annular plaques with scattered pustules on the trunk. Although initially diagnosed as SPD, a lack of response to dapsone, presence of spongiosis on histology, and early age of disease onset led to consideration of APP. The patient was subsequently treated with adalimumab 80 mg weekly and completely cleared. This case illustrates the overlapping features of SPD and APP and suggests that the two disorders may represent a spectrum of the same disease., (© 2023 Wiley Periodicals LLC.)

Published
2023
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