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Clinical Report

Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine Posseme, Duffy Darragh, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Harri Saxén, Annamari Ranki, Katariina Hannula-Jouppi
DOI: 10.2340/00015555-3203

Preview of fully accepted paper, still not published in any volume

Abstract

Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple Allergies, Metabolic wasting) and a SAM-like phenotype has been reported in 4 subjects with different heterozygous DSP variants. We report here a patient with a novel DSP spectrin region (SR) 6 variant c.1756C>T, p.(His586Tyr), novel features of brain lesions and severe recurrent mucocutaneous herpes simplex virus infections, with a favourable response to ustekinumab. Through a review of reported cases of heterozygous variants in DSP SR6 (n = 15) and homozygous or compound heterozygous variants in DSG1 (n = 12) and SAM-like phenotype, we highlight phenotypic variability. Woolly hair, nail abnormalities and cardiomyopathy characterize patients with DSP variants, while elevated immunoglobulin E and food allergies are frequent in patients with DSG1 variants. Clinicians should be aware of the diverse manifestations of desmosomopathies.

Significance

Desmoplakin (DSP) and Desmoglein 1 (DSG1) gene changes result in skin barrier defects leading to widespread red scaly rash, skin thickening on the palms and soles and variable [AQ5] other features. We report here a patient with a novel DSP gene change, novel features of brain lesions and severe viral infections, and a favourable response to treatment with ustekinumab. Woolly hair, nail abnormalities and heart problems characterize patients with DSP gene changes, while elevated serum IgE levels and food allergies are frequent in patients with DSG1 gene changes. Clinicians should be aware of the diverse consequences of DSP and DSG1 gene abnormalities.

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