Keratosis Follicularis

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

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II. 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

III. 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

IV. 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)

V. 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

VI. Differential Diagnosis

  1. Seborrheic Dermatitis
  2. Acanthosis Nigricans
  3. Transient Acantholytic dermatosis (Grover Disease)
  4. Famial Benign Pemphigus (Hailey-Hailey Disease)
  5. Pemphigus Vegetans

VII. Diagnosis

  1. Skin Biopsy with dyskeratosis and Acantholysis

VIII. 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

IX. Complications

  1. Secondary Infection

X. 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]

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Related Studies

Ontology: Keratosis Follicularis (C0022595)

Definition (MSH) An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
Definition (NCI) An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin. It is associated with fragility of the free margins of the nails.
Definition (CSP) slowly progressive autosomal dominant disorder of keratinization with papules on the seborrheic areas of the body that coalesce to form plaques which may become crusted and secondarily infected; lesions may darken and fuse over time to form papillomatous and warty malodorous growths.
Concepts Disease or Syndrome (T047)
MSH D007644
ICD10 E50.8
SnomedCT 268355000, 240633005, 205582000, 157017000, 48611009
English Dariers Disease, Disease, Darier, Keratosis Follicularis, Disease, Darier's, keratosis follicularis, Psorosperm follicularis veget, Heredit follicular keratosis, DARIER-WHITE DISEASE, KERATOSIS FOLLICULARIS, DAR, DARIER DISEASE, DD, DARIER DIS, DARIERS DIS, keratitis follicularis (diagnosis), keratitis follicularis, Darier Disease, Darier White Disease, Darier's Disease, Darier-White Diseases, Disease, Darier-White, Darier-White Disease, Diseases, Darier-White, Keratosis follicular, Darier Disease [Disease/Finding], darier-white disease, follicular keratosis, darier white disease, darier disease, dariers disease, darier's disease, Darier's disease (disorder), Darier's disease, Darier-White disease, Dyskeratosis follicularis, Keratosis follicularis, Psorospermosis, Psorospermosis follicularis vegetans, Follicular keratosis, Hereditary follicular keratosis, Keratosis follicularis (disorder), follicularis; keratosis, keratosis; follicularis
Dutch ziekte van Darier, follicularis; keratose, keratose; follicularis, keratosis folliculair, Darier-ziekte, Keratosis follicularis
German Darier-Krankheit, Keratosis follicularum, Morbus Darier, Dyskeratosis follicularis
Spanish queratosis folicular, Enfermedad de Darier, Enfermedad de Darier-White, Queratosis Folicular, disqueratosis folicular, enfermedad de Darier - White, Queratosis folicular, enfermedad de Darier, queratosis folicular (trastorno), enfermedad de Darier (trastorno)
Japanese ﾓｳﾎｳｾｲｶｯｶｼｮｳ, ﾓｳﾎｳｾｲｶｸｶｼｮｳ, ﾀﾞﾘｴｰﾋﾞｮｳ, ダリエー･ホワイト病, 角化症-毛包性, Darier病, ダリエー病, ダリエ病, プソロスペルマ性毛嚢増殖症, 増殖性毛包角化症, 増殖性毛嚢角化症, 毛包性異角化症, 毛包性角化症, 毛包角化症, 毛嚢性角化症, 毛嚢角化症
Finnish Follikulaarinen keratoosi
Russian KERATOZ FOLLIKULIARNYI, DAR'E BOLEZN', KERATOZ VOLOSIANOI, KERATOZ FOLLIKULIARNYI VEGETIRUIUSHCHII, ДАРЬЕ БОЛЕЗНЬ, КЕРАТОЗ ФОЛЛИКУЛЯРНЫЙ, КЕРАТОЗ ВОЛОСЯНОЙ, КЕРАТОЗ ФОЛЛИКУЛЯРНЫЙ ВЕГЕТИРУЮЩИЙ
Czech Keratóza folikulární, Darierova choroba, Darierova nemoc, folikulární keratóza, keratosis follicularis, morbus Darier, Darierova-Whiteova choroba
French Maladie de Darier, Kératose folliculaire, Maladie de Darier-White, Dyskératose de Darier, Dyskératose folliculaire de Darier
Italian Cheratosi follicolare, Malattia di Darier, Morbo di Darier, Malattia di Darier-White
Portuguese Ceratose Folicular, Doença de Darier, Doença de Darier-White, Queratose folicular
Swedish Dariers sjukdom
Croatian FOLIKULARNA KERATOZA
Polish Choroba Dariera
Hungarian Darier-betegség, Follicularis keratosis
Norwegian Dariers sykdom, Keratosis follicularis
Derived from the NIH UMLS (Unified Medical Language System)

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