Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024523 (
malabsorption
)
7,319
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Treating patients with genodermatoses is challenging because of the
chronic disease
course and of limited available therapies. We report on the efficacy of secukinumab for the treatment of a genodermatosis caused by biallelic loss-of-function mutations in the desmoglein 1 gene (DSG1), the SAM syndrome. The SAM syndrome comprises severe dermatitis, multiple allergies and metabolic wasting and it can manifest as ichthyosiform erythroderma at birth.
1
Additional variable features are palmoplantar keratoderma, hypotrichosis, recurrent skin infections,
malabsorption
and failure to thrive.
2
.
...
PMID:Secukinumab for the treatment of SAM syndrome associated with desmoglein-1 deficiency. 3320 94
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