Article
Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.
The Australasian journal of dermatology - 1 May 2021
Bardou Maine Luellah Demaret, Rivitti-Machado Maria Cecilia, Michalany Nilceo Schwery, de Jesus Adriana Almeida, Goldbach-Mansky Raphaela, Barros João Coriolano Rego, Terreri Maria Teresa de Sande E Lemos Ramos Ascensão, Grumach Anete Sevciovic
Abstract excerpt
Sideroblastic anaemia, B-cell immunodeficiency, periodic fever and developmental delay (SIFD) is caused by mutations of TRNT1, an enzyme essential for mitochondrial protein synthesis, and has been reported in 23 cases. A 6-month-old girl was evaluated with recurrent fever, failure to thrive, skin lesions and anaemia. She received blood transfusions and empirical antibiotics. Skin lesions, previously interpreted...
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