Ichthyosis

Gene: LOR

Green List (high evidence)

PMID 8673107: suggested DN as a likely mechanism but did not perform any functional studies.

PMID 11121146: the study concluded that mutant loricrin, as a dominant-negative disrupter, seems to interfere with nuclear/nucleolar functions of differentiating keratinocytes.

PMID 11038186: heterozygous transgenic mice have slightly increased phenotype severity compared to WT mice.

Created: 21 Mar 2022, 6:25 a.m. | Last Modified: 21 Mar 2022, 6:25 a.m.

Panel Version: 1.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Vohwinkel syndrome with ichthyosis (MIM#604117)

Publications

• 8673107
• 11121146
• 11038186

Mode of pathogenicity
Other

Green List (high evidence)

Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature.

At least 5 unrelated families reported.

Created: 19 Jan 2021, 8:21 p.m. | Last Modified: 19 Jan 2021, 8:21 p.m.

Panel Version: 0.115

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vohwinkel syndrome with ichthyosis, MIM# 604117

Publications

• 8673107
• 9326398
• 9326323
• 25234742
• 25142840