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Keratosis Follicularis

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Keratosis Follicularis, Darier Disease, Darier-White Disease, Psorospermosis

  • Epidemiology
  1. Age of onset typically 6 to 20 years old (but may present as an older adult)
  2. Gender: Equally affects male and female
  3. Prevalence: 1 in 30,000 to 100,000
  • Pathophysiology
  1. Autosomal Dominant inherited skin disorder
  2. ATP2A2 gene encodes SERCA2 Protein
    1. SERCA2 Protein is a Sarcoplasmic ReticulumCalcium transporting ATPase
    2. Affects the endoplasmic reticulum of epidermal cells
  3. Results of defective Calcium pumps
    1. Abnormal epidermal keratinization
    2. Unstable Desmosomes (cell adhesion junctions between Keratinocytes)
  4. Very similar to benign familial Pemphigus
    1. Both conditions are Autosomal Dominant conditions with defective Calcium pumps
  • Findings
  1. Delayed diagnosis is common
  2. Characteristics
    1. General
      1. Yellow-brown or pink hyperkeratotic Papules with grey keratin plug
      2. Lesions coalesce into Plaques, with crust, oily scabs and foul odor
    2. Hand lesons
      1. Palmar pits
      2. Hemorrhagic Macules
      3. Punctate keratosis
      4. Acrokeratosis-Verruciformis-Like Lesions (50% of patients)
        1. Multiple small flat-topped Papules on the dorsal hands and feet
    3. Nail changes
      1. Nail Longitudinal Striations (red and white)
      2. Nail ridges
      3. Subungual hyperkeratosis
      4. Fragile nail margins (with V-shaped defects)
    4. Mucous membrane lesions (includes Oral Lesions on the Buccal mucosa and Palate)
      1. White Papule clusters with central depressions (cobblestoning)
  3. Distribution
    1. Onset on hands and nails
    2. Progresses to involve seborrheic regions
      1. Scalp and forehead
      2. Nasolabial folds
      3. Intertriginous areas (e.g. groin, axilla, below the Breast)
      4. Flexor surfaces
      5. Neck and chest (between the Breasts)
  4. Provocative
    1. Heat exposure or sunlight
    2. Emotional Stress
    3. Hormonal (Menses, pregnancy)
  • Associated Conditions
  1. Neuropsychiatric
    1. Intellectual Disability
    2. Major Depression
    3. Bipolar Disorder
    4. Seizure Disorder
  2. Ophthalmic
    1. Recurrent Herpes Keratitis
    2. Corneal Ulcer
    3. Conjunctival keratosis
  • Differential Diagnosis
  1. Seborrheic Dermatitis
  2. Acanthosis Nigricans
  3. Transient Acantholytic dermatosis (Grover Disease)
  4. Famial Benign Pemphigus (Hailey-Hailey Disease)
  5. Pemphigus Vegetans
  • Diagnosis
  1. Skin Biopsy with dyskeratosis and Acantholysis
  • Management
  1. Avoid exacerbating factors
    1. Use Sunscreen
    2. Avoid local friction and rubbing (e.g. from clothing)
  2. Topical agents
    1. Localized Inflammation
      1. Low to medium Topical Corticosteroids
      2. Topical Vitamiin D (Calcipotriene)
      3. Diclofenac 3% gel
        1. Santos-Alarcon (2016) Dermatol Online J 22(4):13030 +PMID: 27617470 [PubMed]
    2. Localized Hyperkeratosis
      1. Skin Emollients and exfollients
      2. Topical Retinoids (Tretinoin, Tazarotene and Adapalene)
  3. Systemic medications
    1. Isotretinoin (Accutane) 0.5 to 1 mg/kg/day (or other oral Retinoid)
      1. See Isotretinoin for contraindications (esp. pregnancy)
      2. Avoid in intertriginous and Vesiculobullous Darier Disease
    2. Doxycycline
      1. Sfecci (2015) Case Rep Dermatol 7(3):311-5 +PMID: 26594170 [PubMed]
  4. Menstrually related lesions
    1. Oral Contraceptives
  5. Refractory Cases
    1. Surgery (e.g. Dermabrasion) for localized persistent lesions
    2. Fractional CO2 Laser
  • Complications
  1. Secondary Infection
  • References
  1. Wolff (2017) Fitzpatrick's Clinical Dermatology, 8th ed, McGraw-Hill, p. 89-90
  2. Chyl-Surdacka (2023) Postepy Dermatol Alergol 40(3):337-40 +PMID: 37545821 [PubMed]
  3. McConnell (2024) Am Fam Physician 110(1):81-2 [PubMed]