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

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Vakkilainen , S , Puhakka , L , Klemetti , P , Heiskanen , K , Seppänen , M , Muona , M , POSSEMEs , C , Duffy , D , Väisänen , T , Elomaa , O , Palomäki , M , Saxen , H , Ranki , A & Hannula-Jouppi , K 2019 , ' Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions ' , Acta Dermato-Venereologica , vol. 99 , no. 9 , pp. 789-796 . https://doi.org/10.2340/00015555-3203

Title: Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions
Author: Vakkilainen, Svetlana; Puhakka, Laura; Klemetti, Paula; Heiskanen, Kaarina; Seppänen, Mikko; Muona, Mikko; POSSEMEs, Celine; Duffy, Darragh; Väisänen, Timo; Elomaa, Outi; Palomäki, Maarit; Saxen, Hard; Ranki, Annamari; Hannula-Jouppi, Katariina
Contributor: University of Helsinki, Children's Hospital
University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Children and Adolescents
University of Helsinki, Children's Hospital
University of Helsinki, Research Programs Unit
University of Helsinki, HUS Medical Imaging Center
University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Inflammation Center
University of Helsinki, Department of Dermatology, Allergology and Venereology
Date: 2019-07
Language: eng
Number of pages: 8
Belongs to series: Acta Dermato-Venereologica
ISSN: 0001-5555
URI: http://hdl.handle.net/10138/305077
Abstract: Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable 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.
Subject: desmoglein
desmoplakin
metabolic wasting
SAM syndrome
severe dermatitis
RECESSIVE DSG1 MUTATIONS
MULTIPLE ALLERGIES
SEVERE DERMATITIS
PALMOPLANTAR KERATODERMA
DOMINANT
CARDIOMYOPATHY
DEFICIENCY
DYNC1H1
FAMILY
DOMAIN
3121 General medicine, internal medicine and other clinical medicine
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