An Update on the Cutaneous Manifestations of Darier Disease

Abstract

Background Knowledge about the clinical features of Darier disease, an orphan autosomal-dominant genetic disorder, is sparse and has been evaluated only in few studies. Objectives To investigate the clinical features of a large group of patients with Darier disease, and to explore for associations between disease characteristics and severity of the disease. Methods Seventy-six individuals with Darier disease were evaluated utilizing a structured questionnaire-based interview, a physical examination, and a retrospective assessment of their medical records. Results The most frequent locations of lesions were hands (99%) and fingernails (93%). Wart-like lesions on the hands were more visible after soaking them in water for 5 minutes, we therefore named this phenomenon the “wet hand sign”. Oral involvement was found in 43% of patients, while 48% of women and 16% of men showed genital lesions. Patients with severe Darier disease had a tenfold greater risk of developing genital lesions than those with mild disease ( P = .01). Most patients (88%) in our study exhibited a combination of the four types of the disease patterns of distribution (flexural, seborrheic, nevoid, and acral). Conclusions Documentation of disease on the hands and fingernails provides a highly sensitive means to aid in the diagnosis of Darier disease. It is important to evaluate mucosal lesions including genital and oral mucosa.

Cutaneous dirt-adherent disease complicated with Darier’s disease, schizophrenia, and cutis verticis gyrata: A case report

“…The classical lesions include keratotic papules, acral pits, and acral wart-like lesions, and they are common and characterize the disease, whereas the non-classical lesions including acral keratoderma, leukodermic macules, giant comedones, keloid-like vegetations, and acral hemorrhagic blisters are rare and appear only in patients with DD variants. They also found that all patients (100%) had 10.3389/fmed.2022.939107 at least one of the classical lesions and 33% of patients had non-classical lesions of DD (7). According to their classification, we have found that our patient had only classical cutaneous manifestations as described before, but no non-classical lesions.…”

Bacterial Skin Dysbiosis in Darier Disease

“…Lesions of Darier disease on the palm included either wart-like papules on the dorsum of the hands or palmar pits – palmar papules with central depression. These lesions characterize the disease, as described in our previous publication [17]. Non-lesional skin was considered the skin without these lesions in those locations.…”

Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene

“…In contrast to these transient lesions, some phenotypic features of DD are persistent and less likely to improve with therapy. Nearly 50% of patients with DD develop skin-colored flat-topped papules that are clinically and histologically indistinguishable from acrokeratosis verruciformis of Hopf (AKV), an allelic disorder of DD caused by variants in the ATP2A2 gene . Persistent keratotic and comedonal papules and plaques were also reported, raising the question of whether these are driven by additional genetic events that result in their more severe appearance and persistency.…”

“…DD has a wide phenotypic presentation involving skin, mucous membranes, and nails. The predominant clinical manifestation is widespread crusted or keratotic papules located over the scalp, face, neck, and upper trunk, which wax on environmental triggers such as UV, heat, sweating, and occlusion, and wane . In contrast to these transient lesions, some phenotypic features of DD are persistent and less likely to improve with therapy.…”

“…The predominant clinical manifestation is widespread crusted or keratotic papules located over the scalp, face, neck, and upper trunk, which wax on environmental triggers such as UV, heat, sweating, and occlusion, and wane. 3 In contrast to these transient lesions, some phenotypic features of DD are persistent and less likely to improve with therapy. Nearly 50% of patients with DD develop skin-colored flat-topped papules that are clinically and histologically indistinguishable from acrokeratosis verruciformis of Hopf (AKV), an allelic disorder of DD caused by variants in the ATP2A2 gene.…”