The Epidermal Thickness of the Skin.

Epidermal Degeneration Thickness (EI) appears at birth or shortly thereafter, accompanied by blisters, ulcers, or erosion.

The phenotypic pattern in early childhood progresses to varying degrees of generalized hyperkeratosis.

The thinning of the skin is inherited in a dominant genetic manner, so affected patients may have affected family members. However, up to half of the reported cases arise from sporadic mutations. Rare cases of autosomal recessive inheritance have also been reported.

Rarely, epidermal degeneration thickness is found to be associated with other clinical outcomes.

Rare cases have been reported of patients with epidermal degeneration thickness and hypoparathyroidism, with or without vitamin D resistance.

The report also describes epidermal degeneration thickness and congenital dermal ossification in children, in addition to epidermal degeneration thickness in the perineum.