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12 Cards in this Set
- Front
- Back
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Darier Disease/ Darier-White disease/ Keratosis follicularis
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Synonym
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Darier-White disease
Keratosis Follicularis |
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Inheritance
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Autosomal dominant; ATP2A2 gene on 12q23-24
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Prenatal
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DNA linkage analysis available
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Incidence
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1:55,000 1:100,000; M= F
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Age at Presentation
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Second decade of life; rarely in adulthood
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Pathogenesis
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Mutations in ATP2A2 gene encodes SERCA2 (sarcoendoplasmic reticulurn Ca+ATPase isoform 2), a Ca pump providing increased extracellular Ca for normal epidermal differentiataion and formation
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Clinical
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Skin
Hyperkeratotic papules coalescing to warty plaques in seborrheic distribution on trunk, face, scalp, flexures and groin; yellow brown, greasy, malodorous, may be infected with herpes simplex virus (HSV) or bacteria, UVB sensitive Verrucous papules on dorsurn of hands (i.e., Acrokeratosis verruciformis of Hopf) Palmoplantar punctate keratosis/pits Nails Red and white alternating longitudinal bands Subungual hyperkeratosis V shaped nick at distal nail plate; with/without splitting Mucous Membranes Cobblestone papules on oral, anogenital mucosa CNS: Schizophrenia and mental retardation reported in some families |
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D/Dx
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Hailey-Hailey; Grover’s; PRP; Psoriasis
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Lab
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Skin bx
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Management
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Derm referral
Systemic isotretinoin Systemic acitretin Topical retinoids, corticosteroids, emollients Limit direct sunlight exposure sunscreen, protective clothing Acyclovir/antibiotics for superinfection Referral to psychiatrist if symptomatic |
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Prognosis
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Chronic course worsening in summer, with age; normal life span
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