Seborrhea-like dermatitis with psoriasiform elements

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr: 168606
OMIM Id: 610227
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 44 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic epidermal disease
 -Rare genetic disease
Other epidermis disorder
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0001051) Seborrheic dermatitis 25 / 7739
2
(HPO:0000962) Hyperkeratosis 216 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Birnbaum et al. (2006) described an Israeli Jewish Moroccan family presenting with autosomal dominant seborrhea-like dermatitis with psoriasiform elements, including enhanced keratinocyte proliferation, parakeratosis, follicular plugging, Pityrosporum ovale overgrowth, and dermal CD4 lymphocyte infiltration. The disorder had occurred ...
Molecular genetics OMIM In all affected members of the family with seborrhea-like dermatitis with psoriasiform elements studied by them, Birnbaum et al. (2006) identified heterozygosity for a frameshift mutation in the ZNF750 gene (610226.0001), which encodes a putative C2H2 zinc finger ...