Abstract
Darier disease (DD), also known as dyskeratosis follicularis, is a rare genodermatosis classically characterized by persistent hyperkeratotic papules and plaques affecting the seborrheic areas. Due to its variable expressivity, it can present with very discrete clinical features for many years, leading to diagnostic errors and incorrect treatments.We report an unusual case of Darier disease in a 69-year-old male patient in which the classical features of DD had a remarkably late onset. This patient had a several decades’ history of small, recurrent, scattered papules, limited to the face, for which he had received multiple diagnostic interpretations, such as acne or recurrent staphylococcal skin infection. We established the diagnosis of DD with superinfected lesions, and initiated treatment with intravenous antibiotics and oral retinoids. Results were extremely satisfactory in a very short time.This case shows an extremely unusual clinical course of Darier disease and is illustrative for the variable expressivity of the disease. It highlights the need to take dyskeratosis follicularis into account in patients with a longstanding history of persistent, hyperkeratotic papules, from unknown origin, even in the absence of the classical clinical findings.
Highlights
Darier disease (DD), or Darier-White disease, is an autosomal dominant inherited skin disorder, with complete penetrance and variable expressivity
We report an unusual case of Darier disease in a 69-year-old male patient in which the classical features of DD had a remarkably late onset
It is caused by mutations in the ATP2A2 gene, encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase isoform 2 protein (SERCA2) [1]
Summary
Darier disease (DD), or Darier-White disease, is an autosomal dominant inherited skin disorder, with complete penetrance and variable expressivity. The patient presented flexural involvement, with maceration and large vegetative plaques in the genito-crural folds, associated with malodour (Figure 1C). Oral lesions consisting of white cobblestone papules with a central depression were observed on the buccal mucosa, bilaterally (Figure 1E). The patient reported that starting his mid-twenties he noted the occurrence of small scattered papules limited to the face. Along the years he presented to several dermatology clinics and received treatment for acne or recurrent staphylococcal skin infection. At follow-up, the results were extremely satisfactory (Figure 3)
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