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). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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Ventricular septal defect

MedGen UID:: 42366
•Concept ID:: C0018818
•: Congenital Abnormality

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

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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).

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Growth delay

MedGen UID:: 99124
•Concept ID:: C0456070
•: Pathologic Function

A deficiency or slowing down of growth pre- and postnatally.

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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.

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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.

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Psoriasiform dermatitis