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© Research
Publication : Acta dermato-venereologica

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Acta dermato-venereologica - 29 Apr 2019

Vakkilainen S, Puhakka L, Klemetti P, Heiskanen K, Seppänen M, Muona M, Posseme C, Duffy D, Väisänen T, Elomaa O, Palomäki M, Saxén H, Ranki A, Hannula-Jouppi K

Link to Pubmed [PMID] – 31037311

Acta Derm. Venereol. 2019 99:789-796

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.

https://www.ncbi.nlm.nih.gov/pubmed/31037311