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[Darier's disease--a familial case report]
S Stojanović1, M Poljacki, M Jovanović
1Klinika za kozno-venericne bolesti, Klinicki centar, Medicinski fakultet, Novi Sad.
Medicinski Pregled
|March 22, 2002
Summary
Darier's disease is a rare genetic skin disorder. This case highlights a severe presentation with variable penetrance in a family, emphasizing distinct clinical subtypes.
Area of Science:
- Dermatology
- Genetics
- Rare Diseases
Background:
- Darier's disease is an autosomal dominant skin disorder with variable gene penetrance.
- It has an estimated prevalence of 1 in 55,000 to 100,000 individuals.
- New mutations are frequently observed in familial cases.
Observation:
- A 66-year-old female presented with a severe, classic form of Darier's disease.
- Skin lesions began at age 16, worsening in summer, with extensive hyperkeratotic papules and plaques.
- Affected areas included the scalp, trunk, limbs, and oral mucosa, with nail abnormalities.
Findings:
- The patient's severe phenotype demonstrated variable penetrance, as only one of her four generations was affected.
- Clinical presentation included thick keratotic layers on the head, verrucous plaques on the trunk, and nail changes.
- Oral lesions exhibited a cobblestone-like appearance.
Implications:
- This case underscores the diverse clinical spectrum of Darier's disease, including classic, hypertrophic, vesiculobullous, and linear types.
- Understanding variable penetrance is crucial for genetic counseling and family management.
- Severe presentations necessitate comprehensive dermatological care and monitoring.