The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the nail||90%|
|Abnormal blistering of the skin||7.5%|
|Autosomal dominant inheritance||-|
|Bipolar affective disorder||-|
|Enlargement of parotid gland||-|
|Intellectual disability, mild||-|
|Subungual hyperkeratotic fragments||-|
The affected skin may smell unpleasant, which may be due to bacteria growing in the rash. If bacterial overgrowth is suspected or there is a lot of crusting, it can be helpful to apply antiseptics or soak in astringents.
Topical medications may include topical retinoids (i.e., adapalene, tazarotene gel, or tretinoin). Topical retinoids may reduce hyperkeratosis within 3 months. However, irritation is a side effect. Other medications may include acitretin, isotretinoin, cyclosporine, or oral retinoids (eg, acitretin, isotretinoin). Oral retinoids have been the most effective medical treatment for Darier disease, leading to reduction of symptoms in 90% of affected people. However, prolonged use is limited due to adverse effects.
Other treatments may include oral antibiotics to clear bacterial infection, oral acyclovir to treat or suppress herpes simplex virus infection; dermabrasion; electrosurgery; and Mohs micrographic surgery for localized areas.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
I would be very grateful for some information about treatment of Darier disease during pregnancy, particularly in cases where symptoms are exacerbated. See answer
My sister has Darier disease. Is this condition genetic? Are my children at risk to develop this condition? If so, what can be done to help prevent a flare-up? See answer
I have had the diagnosis of Darier disease for many years. My skin has recently been getting worse. I'm looking for more information about treatment, research and how to find a dermatologist in my area who has experience with this condition. See answer