Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.
Acta Derm Venereol
; 99(9): 789-796, 2019 Jul 01.
Article
in En
| MEDLINE
| ID: mdl-31037311
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Variation
/
Brain Diseases
/
Dermatitis, Exfoliative
/
Desmoplakins
/
Failure to Thrive
/
Herpes Simplex
/
Ichthyosis
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Child, preschool
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Acta Derm Venereol
Year:
2019
Document type:
Article
Affiliation country:
Finland