Severe dermatitis-multiple allergies-metabolic wasting syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME
EPKHE
sam syndrome
Number of Symptoms 26
OrphanetNr: 369992
OMIM Id: 615508
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other epidermis disorder
 -Rare skin disease
Other genetic epidermal disease
 -Rare genetic disease
Other immunodeficiency syndrome due to defects in adaptive immunity
 -Rare genetic disease
 -Rare immune disease
Rare allergic disease
 -Rare allergic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
2
 (HPO:0001510) Growth delay 295 / 7739
3
 (HPO:0100792) Acantholysis 11 / 7739
4
 (HPO:0001019) Erythroderma 24 / 7739
5
 (HPO:0001006) Hypotrichosis 219 / 7739
6
 (HPO:0001581) Recurrent skin infections 9 / 7739
7
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
8
 (HPO:0003228) Hypernatremia 12 / 7739
9
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
10
 (OMIM) Pulmonic stenosis, mild (in some patients) 1 / 7739
11
 (MedDRA:10058675) Dermatitis psoriasiform 2 / 7739
12
 (OMIM) Widespread acantholysis within spinous and granular layers 1 / 7739
13
 (OMIM) Alternating parakeratosis and orthokeratosis 1 / 7739
14
 (OMIM) Erythroderma, generalized congenital 1 / 7739
15
 (OMIM) Erosions 5 / 7739
16
 (OMIM) Scaling 1 / 7739
17
 (OMIM) Subcorneal and intragranular separation 1 / 7739
18
 (OMIM) Hyperkeratotic yellowish papules and plaques arranged linearly on palms and fingers 1 / 7739
19
 (OMIM) Markedly elevated IgE levels 1 / 7739
20
 (OMIM) Alternating hypogranulosis and hypergranulosis 1 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Recurrent skin and respiratory infections 1 / 7739
23
 (OMIM) Severe hypernatremia in neonatal period 1 / 7739
24
 (OMIM) Hyperkeratosis of weight-bearing areas of soles 1 / 7739
25
 (OMIM) Esophagitis, eosinophilic (in some patients) 1 / 7739
26
 (OMIM) Uneven distribution of desmosomes in upper epidermis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Samuelov et al. (2013) studied 2 sisters, born of first-cousin Arab Muslim parents, who exhibited hypotrichosis and congenital erythroderma reminiscent of congenital ichthyosiform erythroderma (see 242100), with skin erosions and scaling as well as yellowish papules and plaques ...
Molecular genetics OMIM In 2 unrelated consanguineous families with congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE features suggestive of Netherton syndrome (NTS; 256500), Samuelov et al. (2013) excluded pathogenic mutations in the SPINK5 gene (605010). Whole-exome sequencing revealed 2 different ...