Keratosis Follicularis (Darier Disease) Clinical Presentation

Updated: Jul 31, 2018
  • Author: Pui-Yan Kwok, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

Most patients with keratosis follicularis (Darier disease) have a family history of the disease. The pattern of inheritance is autosomal dominant. However, some patients, up to 47% in one series, have no clear family history. These cases may represent sporadic mutations, or these patients may have family members with mild disease that was not recognized.

The first skin lesions typically occur in the teenage years and are frequently associated with pruritus.

Heat, sweat, humidity, sunlight, UVB exposure, [38] lithium, oral corticosteroids, and mechanical trauma have been reported to exacerbate keratosis follicularis (Darier disease). Some females report flares around menstruation.

Even though the severity of keratosis follicularis (Darier disease) fluctuates over time, keratosis follicularis (Darier disease) is a chronic, unremitting condition. In one study, one third of patients noted improvement of the condition with age; however, another one third of patients showed worsening of the disease with age.

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Physical Examination

The lesions may first appear as skin-colored or yellow-brown papules with a greasy, warty texture. These lesions are especially common in seborrheic areas such as the forehead, scalp, margin of the scalp, nasolabial folds, ears, chest, and back (see the image below).

Typical distribution of keratotic papules in the s Typical distribution of keratotic papules in the seborrheic regions. Courtesy of Susan Mallory, MD, Director of Pediatric Dermatology, Washington University School of Medicine.

Approximately 80% of patients have mild flexural involvement with scattered papules in the groin, axillae, or, in women, submammary skin. In less than 10% of patients, flexural disease predominates, with large, warty, vegetative plaques in the axillae, groin, or perineum. These large flexural lesions are especially bothersome to patients because of their malodor.

Involvement of the hands is very common (approximately 95%). Lesions on the palms include punctate keratoses (80%), palmar pits (80%), and hemorrhagic macules (< 10%). Acrokeratosis verruciformis–like lesions (warty flat-topped papules on the dorsal hands) are present in approximately half the patients. Interestingly, several patients with acrokeratosis verruciformis of Hopf (who have dorsal hand lesions only) have been found to harbor mutations in ATP2A2, suggesting this condition may actually be a localized form of keratosis follicularis (Darier disease).

Nail changes in keratosis follicularis (Darier disease) provide important diagnostic clues (see the image below). White and red longitudinal bands, longitudinal nail ridges, longitudinal splitting, and subungual hyperkeratosis are frequently found. A sandwich of red and white longitudinal bands, often with a V-shaped nick at the free margin of the nail, is the most pathognomonic nail finding in persons with keratosis follicularis (Darier disease). These changes on the hands can also occur on the feet, albeit less commonly.

Longitudinal ridges, red and white lines, and V-sh Longitudinal ridges, red and white lines, and V-shaped nicks. Courtesy of Susan Mallory, MD, Director of Pediatric Dermatology, Washington University School of Medicine.

Mucosal lesions are detected in approximately 15% of patients, and they appear as white papules with a central depression. These cobblestone lesions are most commonly found in the mouth, but they also may occur on the anogenital mucosa. At times, oral lesions may affect the salivary glands and cause obstruction. [39]

Clinical variants of keratosis follicularis (Darier disease) include hypertrophic and vesicobullous types. Linear or segmental keratosis follicularis (Darier disease) has been shown in some cases to result from genetic mosaicism of ATP2A2. Guttate leukoderma has been noted in some families. [40]

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Complications

Renal disease has been reported. [41]

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