Skin, Darier disease [LMP28202]

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Image Details
Diagnostic Modality: 
Whole Slide Image
Disease Category: 
Genetic Disorders
Diagnosis: 
Darier disease
Species: 
Human
Organ System: 
Skin
Gender: 
Female
Age: 
11 years
Diagnosis Code: 
ICD-10: Q82.8
Slide Contributor Information
Shao, T., Hazrati, L.

Keywords

Darier disease, keratosis follicularis, Darier-White disease

Clinical History

11 year-old female with new rash; father has Darier disease.

Clinical Discussion

Darier disease (keratosis follicularis) is a rare autosomal dominant genodermatosis due to mutations in gene ATP2A2. It is characterized by greasy, crusted, keratotic papules and plaques in seborrheic regions, nail abnormalities, and mucous membrane changes. This skin biopsy from the shoulder contains epidermis, dermis and subcutis. In the epidermis, there are foci of suprabasal clefting with acantholytic dyskeratotic cells and overlying vertically orientated parakeratotic columns, which are hallmarks of Darier disease.