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

Authors

  • Svetlana Vakkilainen
  • Laura Puhakka
  • Paula Klemetti
  • Kaarina Heiskanen
  • Mikko Seppänen
  • Mikko Muona
  • Celine Posseme
  • Darragh Duffy
  • Timo Väisänen
  • Outi Elomaa
  • Maarit Palomäki
  • Harri Saxén
  • Annamari Ranki
  • Katariina Hannula-Jouppi

DOI:

https://doi.org/10.2340/00015555-3203

Keywords:

desmoglein, desmoplakin, metabolic wasting, SAM syndrome, severe dermatitis

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.

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Published

2019-06-04

How to Cite

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. (2019). Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. Acta Dermato-Venereologica, 99(9), 789–796. https://doi.org/10.2340/00015555-3203

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