A unique variant of Darier's disease

Abstract

A 45-year-old black woman presented with a chief complaint of an increasing number of "light spots" on her face, upper trunk, and legs. She had a 4-year history of a pruritic eruption on the dorsum of her hands. The eruption was particularly pruritic in the summer months. Other family members, including her sister and her daughters, reportedly had a similar dermatologic problem. The patient had been previously evaluated and biopsied by another dermatologist. The earlier biopsy was nondiagnostic, however, and she presented for further evaluation of this problem. On physical examination, the patient had hypopigmented macules along her jawline (Fig. 1), lateral neck, and upper chest. She had similar hypopigmented macules on her thighs. She had hyperkeratosis of the palmoplantar surface of her hands and feet. The dorsum of her hands had numerous coalescing, shiny, flat-topped, hypopigmented papules (Fig. 2), and several of her fingernails had distal, V-shaped notching. A punch biopsy from a papule on the dorsum of her hand was obtained. The epidermis had corps ronds present with focal areas of acantholysis above the basal layer (Fig. 3). The dermis had sparse, superficial, perivascular infiltrates composed of lymphocytes and histiocytes. These changes were consistent with our clinical diagnosis of Darier's disease (keratosis follicularis).

Darier's (Darier–White) disease/keratosis follicularis

“…Keratotic lesions disposed in a unilateral, linear, zosteriform, or localized pattern, possessing features of dyskeratotic acantholysis, often create a debate about whether Darier's disease or a localized epidermal nevus is present. Other unusual forms, namely cornifying, 94 comedonal, 95 mosaic form, 96 hemorrhagic, 97 “unique variant”, 98 and acral, 99,100 have been described. Some other notable reports have recorded histopathologically confirmed Darier's disease localized to the vulva, 101,102 breast, 103 and cervix 104 in females, one of whom was as young as 5 years of age 101 …”

Hypopigmented macules and papules following the lines of Blaschko: a novel variant of Darier's disease

“…Other clinical features may include palmoplantar pits, longitudinal erythronychia, distal V‐shaped notching of the nail plates, and papular lesions in the oral mucosa . In addition to the classical presentation, several unusual clinical variants, such as acral hemorrhagic, vesiculobullous, flexural, acneiform comedonal, hypopigmented, and mosaic types, have been described . Of note, the mosaic variant may manifest as unilateral streaks of keratotic papules (type 1) or with increased severity of similar lesions in a streaky pattern over a background of generalized disease (type 2) .…”

Hypopigmented Segmental Darier Disease

“…Over the last few decades, several variants of Darier disease have been reported, including the guttate hypopigmented, 9 vesiculobullous, 10 acral hemorrhagic, 11,12 acneiform comedonal, 13 and cornifying 14 variants. Segmental variant, also known as linear, localized, or zosteriform, has a linear pattern that follows Blaschko lines.…”