Palmoplantar Keratoderma and Erythrokeratoderma

Gene: EBP

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Chondrodysplasia punctata, X-linked dominant 302960

Multiple unrelated individuals with mutations in the EBP (PMID:10391218, 11038443; 12509714)

PMID: 7363504
Manzke et al. (1980) reported 3 affected girls. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life.

PMID: 12509714
Affected females had typical skin manifestations an all but 1 had skeletal dysplasia. Herman et al. (2002) concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female.
Sources: Literature

Created: 19 Aug 2020, 5:03 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Chondrodysplasia punctata, X-linked dominant 302960

Publications

• 10391218
• 11038443
• 12509714