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At a glance

A slowly progressive disorder involving the skin and causing severe keratinization. The lesions usually coalesce and result in crusted papillomatous lesions, sometimes accompanied with pus. The papules are also known as keratotic papules, keratosis follicularis, or dyskeratosis follicularis. Milder forms are more common and usually consist of skin rashes that flare up under certain conditions such as high humidity, stress or wearing tight-fitting clothes. The diagnostic is often established with the presence of poorly formed fingernails containing longitudinal white and red striations. This feature is pathognomonic. The onset may be as early as teenage years, but typically is observed during the third decade.

Synonyms

Darier’s Disease; DAR; Keratosis Follicularis; Dyskeratosis Follicularis.

History

It was initially described in 1886 by Prince A Morrow (1846-1913), an American dermatologist and venereologist, also known to be the first campaigner for sexual education. Darier and White reported the first clinical presentation in 1889. Ferdinand Jean Darier (1856-1938) was a French Dermatologist and Pathologist. Dr Darier was known as the Father of Modern Dermatology in France. He identified several health disorders, especially Darier’s Disease, a peculiar figurate erythema in 1889 which was called in French the “psorodermose folliculaire végétante.

Incidence

The prevalence varies geographically around the world. Overall, it is estimated as between 1:30,000 and 1:100,000 people. It is reported at 3.8:100,000 in Slovenia, 1:36,000 in Northeast England, 1:30,000 in Scotland, and 1:100,000 in Denmark. It affects both men and women equally and is not contagious.

Genetic inheritance

It is a rare autosomal dominant with intrafamilial and interfamilial variability in severity with 100% penetrance in late teenage life. It is a skin disorder associated with neuropsychiatric disorders that are caused by mutations in a single gene, ATP2A2. This gene expresses itself in the skin and the brain. The gene map locus is 12q23-q24.1.

Pathophysiology

Results from an abnormal desmosome–keratin filament complex that leads to disruption of cell adhesion.

Diagnosis

Diagnosis is made by family history and clinical aspect. Histological studies of the skin are diagnostic and characterized by hyperkeratosis, dyskeratotic epidermal cells, suprabasal separation of the spinal layer with formation of clefts and lacunae containing acantholytic cells, dermal villi extending in the epidermis, and mild nonspecific perivascular dermal infiltration.

Clinical aspects

Age of onset is usually late teenage and most often during the third decade. Keratotic papules appear predominantly on the upper trunk and may involve the face, scalp, neck, hands (palms), feet (soles), and limb flexures (axillae, groins). The papillomatous masses may become malodorous. Nail dystrophy manifests as subungual hyperkeratosis, fragility, longitudinal ridging and splitting, and longitudinal red and white lines. Mucous membranes, such as lips, buccal mucosa, hard palate, alveolar ridges, uvula, pharynx, ...

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