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Severe dermatitis-multiple allergies-metabolic wasting syndrome(EPKHE)

MedGen UID:
816049
Concept ID:
C3809719
Disease or Syndrome
Synonyms: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige; ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, RECURRENT INFECTIONS, AND MULTIPLE FOOD ALLERGIES; SAM SYNDROME; SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME
SNOMED CT: Severe dermatitis, multiple allergies, metabolic wasting syndrome (774211005); Congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome (774211005); SAM syndrome (774211005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): DSG1 (18q12.1)
 
Monarch Initiative: MONDO:0014218
OMIM®: 615508
Orphanet: ORPHA369992

Definition

A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. [from SNOMEDCT_US]

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Multiple muscular ventricular septal defects
MedGen UID:
868853
Concept ID:
C4023263
Anatomical Abnormality
A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Eosinophilic infiltration of the esophagus
MedGen UID:
1637185
Concept ID:
C4703646
Finding
Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Increased circulating IgE concentration
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased overall level of immunoglobulin E in blood.
Psoriasiform dermatitis
MedGen UID:
75508
Concept ID:
C0262985
Disease or Syndrome
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Recurrent skin infections
MedGen UID:
377848
Concept ID:
C1853193
Disease or Syndrome
Infections of the skin that happen multiple times.
Food allergy
MedGen UID:
1635115
Concept ID:
C4554344
Disease or Syndrome
Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.
Hypernatremia
MedGen UID:
6966
Concept ID:
C0020488
Disease or Syndrome
An abnormally increased sodium concentration in the blood.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.
Acantholysis
MedGen UID:
1687
Concept ID:
C0000887
Pathologic Function
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Reduced circulating growth hormone concentration
MedGen UID:
1815075
Concept ID:
C5706169
Finding
Concentration of growth hormone in the blood circulation below normal limits.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere dermatitis-multiple allergies-metabolic wasting syndrome
Follow this link to review classifications for Severe dermatitis-multiple allergies-metabolic wasting syndrome in Orphanet.

Recent clinical studies

Prognosis

Samuelov L, Sprecher E
J Allergy Clin Immunol 2014 Oct;134(4):808-15. doi: 10.1016/j.jaci.2014.07.061. PMID: 25282561

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