19 August 2009 – Case of the Week #155
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Case of the Week #155
An 18-year-old girl suffered from closely packed dark papules on her feet and legs since she was 6 years old. She now presented with new papules on her hands, extending to her arms. The papules were biopsied.
What is your diagnosis?
Darier’s disease (Darier-White disease, keratosis follicularis)
Histologic examination of the papules revealed mild acanthotic epidermis with slight papillomatosis, hyperkeratosis and follicular plugging. Scattered dyskeratotic cells were present in the spinous layer. Cells displayed basophilic cytoplasm and round, pyknotic nuclei surrounded by clear halos (“corp ronds”), or elongated grain shaped nuclei (“grains”), a characteristic of Darier’s disease.
Darier’s disease is an autosomal dominant condition of the skin, nails and mucosal surfaces. It is caused by mutations in the ATP2A2 gene, encoding sarco-endoplasmic reticulum calcium pumping ATPase type 2 (SERCA2) (Cell Mol Life Sci 2008;65:205), which cause loss of adhesion between epidermal cells and abnormal keratinization. Patients usually present during their teenage years with dark, crusty, keratotic papules, sometimes filled with pus or accompanied by a strong, lingering odor. Lesions are exacerbated by heat and UV light. There is often no family history (J Eur Acad Dermatol Venereol 2005;19:114).
Treatment has limited success, and consists of topical and systemic retinoids. For acute flares, topical corticosteroids, cyclosporin and antibiotics have been used (Am J Clin Dermatol 2003;4:97).
The differential diagnosis includes:
• Acrokeratosis verruciformis - rare autosomal dominant disorder of keratinization; multiple flat, skin-colored keratotic wart-like lesions on dorsum of hands and feet; may be related to acral Darier’s disease but lacks dyskeratotic cells
• Familial benign pemphigus (Hailey-Hailey disease) - chronic autosomal dominant disorder with suprabasilar and widespread acantholysis
• Seborrheic dermatitis - papulosquamous disorder of sebum-rich areas of scalp, face and trunk; severity varies over time; also associated with Malassezia (a fungus); nonspecific histologic findings
• Transient acantholytic dermatosis (Grover’s disease) - pruritis is common; similar histologic findings of focal acantholysis, dyskeratosis and spongiosis
• Warty dyskeratoma - an isolated follicular lesion
Additional references: eMedicine, PathologyOutlines.com, Wikipedia, J R Soc Med 2003;96:439, Lever’s Histopathology of the Skin
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