An Update on the Cutaneous Manifestations of Darier Disease.
Darier disease
clinical manifestations
keratosis folicullaris
Journal
Journal of cutaneous medicine and surgery
ISSN: 1615-7109
Titre abrégé: J Cutan Med Surg
Pays: United States
ID NLM: 9614685
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
pubmed:
16
3
2021
medline:
29
1
2022
entrez:
15
3
2021
Statut:
ppublish
Résumé
Knowledge about the clinical features of Darier disease, an orphan autosomal-dominant genetic disorder, is sparse and has been evaluated only in few studies. 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. 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. 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 ( 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.
Sections du résumé
BACKGROUND
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
OBJECTIVE
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
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
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 (
CONCLUSIONS
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.
Identifiants
pubmed: 33715454
doi: 10.1177/1203475421999331
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM