Darier-White disease, also known as (dys)keratosis follicularis, represents a rare, autosomal dominantly transmitted genodermatosis, which was first described in 1889, both by Ferdinand-Jean Darier, as well as by J.C.
White, the latter also pointing out the familial aggregation of the disease[1,2,3,4]. Throughout time there have been numerous hypotheses regarding the etiology of the disease, but nowadays it is considered that it is caused by mutations in the ATP2A2 gene, encoding the sarco/endoplasmic reticulum Ca2+ adenosine triphosphatase isoform 2 (SERCA2), resulting in disturbances of the intracellular transport of calcium, and of the calcium-signaling pathway[1,2,4].
The onset of keratosis follicularis occurs most commonly during the first two decades of life, without a gender or ethnicity-related preferential distribution[1,2,4].
The disease is clinically characterized by the appearance of greasy yellow-brown keratotic follicular papules, that tend to coalesce into imprecisely defined plaques, with a specific symmetrical distribution in seborrheic areas [1,2,4,5];
approximately 80% of patients present lesions located in the flexures (axillary, submammary, inguino-perineal), which can evolve into malodorous vegetant forms [6,7].
These manifestations may be accompanied by typical nail changes, keratotic papules located on the dorsa of the hands and feet, palmoplantar punctuated hyperkeratosis, as well as mucosal lesions[1,2,4,6].
The evolution of Darier disease is chronic, recurrent, although the possibility of improving the clinical manifestations with age has been observed. The treatment presents a palliative character, including prevention methods (photoprotection, emollients, local antiinflammatory and antiseptic agents), topical and systemic medical therapy (aromatic retinoids, corticosteroids, 5-fluorouracil), and also multiple surgical alternatives (dermabrasion, electrotherapy, laser treatment, photodynamic therapy, surgical excision) [1,2,4].
In the current paper we present the case of a 37-yearold female patient with a minimum degree of mental retardation, know to suffer from endocrine associated conditions, who requested admission into our clinic after the appearance of pruritic, hyperpigmented, brownblackish, papular lesions, with an onset about 13 years ago, initially axillary and subsequently extended onto the cephalic extremity, thorax and genital area.Following the anamnesis and clinical exam, the suspicion of type 2 acanthosis nigricans - occurred in the context of the endocrine associated conditions, was raised, but the histopathological exam of the biopsy material taken from the patient established the certainty diagnosis –Darier’s disease.