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)
Monoallelic
desmoglein 1
mutations have been known for many years to cause striate palmoplantar keratoderma, but only recently, biallelic loss-of-function mutations were associated with a new disorder, designated as SAM syndrome (comprising severe dermatitis, multiple allergies and metabolic wasting) in two consanguineous families. We report on a new case from a third independent family with the homozygous nonsense mutation, c.2659C>T, p.R887* in exon 15 of DSG1 (
desmoglein 1
gene). This mutation led to mRNA decay and loss of expression of
desmoglein 1
. The clinical phenotype consisted of severe palmoplantar keratoderma, dermatitis and multiple allergies. In contrast to the previous cases,
malabsorption
, hypoalbuminaemia, developmental delay, hypotrichosis or severe recurrent infections were not observed.
...
PMID:Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. 2504 Oct 99
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
