Alopecia areata in Darier disease and clinical findings in five affected family members
Sadollah Shamsadini MD, Alireza Fekri MD
Dermatology Online Journal 11 (3): 23

Introduction.

A 32-year-old man who was diagnosed with keratosis follicularis or Darier disease (DD) presented with a new chief complaint of a round patch of hair loss on his scalp of 1 month duration. On clinical examination no other hair loss was found. He had 21-year history of pruritic eruptions, brown papules that occurred on his scalp, face, neck, back of ears, upper trunk, legs, palms, and the dorsum of the hands. The pruritic eruptions were particularly more severe in the summer months. Other family members, including his father, brother, and two sisters were similarly affected. The patient and his family had been previously evaluated and diagnoses confirmed by biopsies. He presented for treatment of superimposed alopecia areata of his scalp. He had a history of hospital admission for widespread Kaposi varicelliform eruption following severe sun exposure.

Figure 1	Figure 2

Figure 3	Figure 4

Figure 5	Figure 6

Physical examination revealed a patch of alopecia with exclamation point hairs but no loose hair at the periphery. He also had widespread brown papules especially involving his jaw line, lateral neck, and upper chest area. Similar pigmented macules and papules were seen on his thighs. The palms and soles were hyperkeratotic. The dorsum of hands had numerous coalescing, shiny, flat-topped, brown papules that were characteristic for Darier disease (Fig. 2). Several fingernails had distal, V-shaped notching with sandwich shape of red and white streaks. The pathology report of a skin punch biopsy from a papule on the dorsum of hand indicated the presence of corps ronds with focal areas of acantholysis just above the basal layer and a sparse, superficial-perivascular infiltrate composed of lymphocytes and histiocytes. These changes were consistent with clinical diagnosis of keratosis follicularis. The clinical findings in all five affected family members are presented in table 1.

Discussion

DD is an autosomal dominant disorder of keratinization and was originally described in I889 by Jean Darier, a French dermatologist [1, 2]. It is a rare condition and is characterized by pruritic warty bumps often involving the chest, neck, and upper back. This condition can affect both men and women [3]. DD is a rare disease and the occurrence of five cases in one family is even more uncommon. The usual alopecia of DD is attributed to traumatic hair loss from rubbing an affected area, as evident on the lower eyelids in two of our five cases (Figs. 1 and 4). The association of DD with alopecia areata has not been reported previously [4, 5, 6].

The onset of skin changes in this disease is typically in the late first through the fourth decades [7, 8], commonly around the age of puberty [9]. The mean onset age in our affected patients was 15.4 years. Lesions usually first appear on the mid chest, upper shoulders, and neck. Affected patients typically develop verrucous, hypertrophic, and vegetative lesions most commonly present in a seborrheic distribution (scalp, forehead, nasolabial folds, chest, and groin).

Histopathology findings of skin cut sections showed dyskeratotic cells (corps ronds and grains) and acantholysis.

The finding of flat-topped skin-colored-to-brown papules without greasy scale that are distributed acrally on the dorsum of the hands and feet and is similar in appearance and pattern to acrokeratosis verruciformis of Hopf [3].

Nail changes occur in 90-100 percent of patients and include longitudinal red and white subungual streaks that transverse the length of the nail. Where the streak meets the free nail margin, V-shaped notches or clefts occur. In our five patients, notching was present in four, red white bands were present in three, and distal onycholysis was present in one. Mental retardation is more common in patients with chronic DD but present in only one of our five patients. It has been suggested that suicidal ideation is more common among patients with DD than among patients with other disfiguration skin disorders; we advised our patients to undergo periodic psychiatric consultation.

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