keratosis follicularis
Last reviewed 11/2023
Darier's disases is a genetic disorder of keratinisation based mainly on hair follicles that is inherited as an autosomal dominant trait. It usually presents in the first or second decade of life. Both sexes are equally affected. It is aggravated by sunlight.
The underlying defect resides with a disorder of cytoskeletal tonofibrils and desmosomes. A keratin-coding gene on the long arm of chromosome 12 has been implicated.
Diagnosis is made on showing dyskeratotic epidermal cells and epidermal clefts after skin biopsy.
Darier's disease
Darier's disases also known as Darier-White disease or keratosis follicularis is a genetic disorder of keratinisation based mainly on hair follicles that is inherited as an autosomal dominant trait (1).
It usually presents in the first or second decade of life (before the third to fourth decades of life) (2).
Both sexes are equally affected.
Darier's disease is aggravated by sunlight, sweating, mechanical trauma and infection (2)
The underlying defect resides with a disorder of cytoskeletal tonofibrils and desmosomes. A mutation in the long arm of chromosome 12 (ATP 2A2 gene) which encodes SERCA2 (sarco/endoplasmic reticulum calcium)-ATPase pump has been implicated (1).
Diagnosis is made on showing dyskeratotic epidermal cells and epidermal clefts after skin biopsy.
Remissions and relapses can be seen usually during the course of the disease (2).
Except for a few patients who develop psychiatric symptoms (due to neighboring gene co-segregation) all the other affected individuals develop only epidermal symptoms (2).
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