Skin nontumor

Vesiculobullous and acantholytic reaction patterns

Darier disease



Topic Completed: 29 July 2021

Minor changes: 29 July 2021

Copyright: 2002-2021, PathologyOutlines.com, Inc.

PubMed Search: Darier disease [title] skin pathology

Alicia McNish, M.B.B.S.
Jonathan D. Ho, M.B.B.S., D.Sc.
Page views in 2020: 8,637
Page views in 2021 to date: 9,020
Cite this page: McNish A, Fitz-Henley M, Ho JD. Darier disease. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/skinnontumordariersdisease.html. Accessed October 23rd, 2021.
Definition / general
  • Autosomal dominant genodermatosis
  • Clinical: greasy keratotic papules in a seborrheic distribution, nail changes and mucosal findings
  • Histologic: acantholytic dyskeratosis
Essential features
  • Autosomal dominant genodermatosis due to mutations in ATP2A2 gene
  • Clinical features: family history, greasy hyperkeratotic papules in a seborrheic / flexural / acral distribution, mucosal lesions and nail changes
  • Histologic features: acantholytic dyskeratosis with corp rond and grain formation
  • Clinical correlation is crucial to distinguish from mimickers with identical histopathologic features
Terminology
  • Darier-White disease, keratosis follicularis and dyskeratosis follicularis
ICD coding
  • ICD-10: L11.8 - other specified acantholytic disorders
  • ICD-11: EC20.2 - hereditary acantholytic dermatoses
Epidemiology
Sites
  • Seborrheic distribution: central chest, back, marginal scalp and face
  • Dorsal hands
  • Palms and soles
  • Oral cavity
  • Nails
  • Intertriginous skin
Pathophysiology
Etiology
Clinical features
Diagnosis
  • Family history
  • Mucocutaneous findings
  • Skin biopsy
  • PCR DNA amplification to detect ATP2A2 mutations (Mol Med Rep 2015;12:1845)
Prognostic factors
Case reports
Treatment
Clinical images

Contributed by Michael Fitz-Henley, M.B.B.S., D.M.
Darier disease Darier disease

Darier disease

Flexural Darier disease

Flexural Darier disease

Subtle flat topped acral papules

Subtle flat topped acral papules

Nail changes in Darier disease

Nail changes in Darier disease

Microscopic (histologic) description
Microscopic (histologic) images

Contributed by Jonathan D. Ho, M.B.B.S., D.Sc.
Hyperkeratosis and<br>intraepidermal<br>clefting

Hyperkeratosis and
intraepidermal
clefting

Acantholytic dyskeratosis

Acantholytic dyskeratosis

Corp ronds and grains Corp ronds and grains

Corp ronds and grains


Grains forming tier

Grains forming tier

Villus formation

Villus formation

Acral papule Acral papule

Acral papule

Virtual slides

Images hosted on other servers:

Darier disease

Positive stains
  • PAS stain - should be performed to rule out superimposed fungal infections but may not always be positive
Molecular / cytogenetics description
Sample pathology report
  • Skin of chest, punch biopsy:
    • Darier disease (see comment)
    • Comment: The specimen exhibits parakeratosis, epidermal hyperplasia, acantholytic dyskeratosis with prominent corp rond and grain formation, suprabasal clefting with formation of villi and a mild superficial perivascular lymphocytic infiltrate. Although similar acantholytic dyskeratosis may be seen in a number of entities, given the clinical history of greasy papules in a seborrheic distribution, a positive family history and persistence of lesions, the findings are most consistent with Darier disease.
Differential diagnosis
  • Hailey-Hailey disease:
    • Intraspinous to full thickness acantholysis
    • Less prominent dyskeratosis
    • Dilapidated brick wall appearance
  • Acrokeratosis verruciformis of Hopf:
  • Pemphigus vulgaris:
    • Suprabasal and intraspinous acantholysis without corp rond and grain formation
    • Intraepidermal, intercellular deposition of IgG/C3
  • Transient acantholytic dermatosis (Grover disease):
    • May have identical histopathologic features
    • Distinction is easy based on clinical features (relapsing remitting pruritic papular eruption in middle aged to elderly males)
  • Warty dyskeratoma:
    • Identical Darier type acantholytic dyskeratosis but solitary lesion
    • Tends to have distinct cup shaped epidermal invagination and very prominent villus formation (J Dermatol 2017;44:232)
  • Acantholytic dyskeratotic acanthoma:
  • Acantholytic dermatosis of the genitocrural area:
    • Darier or Hailey-Hailey type histopathologic appearance
    • Limited to the genitocrural area
    • No other clinical features of heritable acantholytic disease
  • Focal acantholytic dyskeratosis:
Additional references
Board review style question #1

A 35 year old man presents with a 10 year history of scaly papules on the face and chest. Biopsy reveals the findings shown in the image above. What is the most likely diagnosis?

  1. Darier disease
  2. Hailey-Hailey disease
  3. Herpes simplex virus infection
  4. Pemphigus vulgaris
  5. Seborrheic dermatitis
Board review style answer #1
A. Darier disease. The photomicrograph shows acantholysis with dyskeratosis (corp ronds and grains) as well as the formation of villi classically seen in Darier disease. While Hailey-Hailey disease may have acantholysis with dyskeratosis, prominent corp ronds and grains are lacking. Pemphigus has bland acantholysis and herpes simplex shows distinct viral cytopathic change. Seborrheic dermatitis is a spongiotic dermatitis.

Comment Here

Reference: Darier disease
Board review style question #2
Which of the following diseases may demonstrate histopathologic features identical to Darier disease?

  1. Grover disease
  2. Hailey-Hailey disease
  3. Inflammatory and linear verrucous epidermal nevus
  4. Pemphigus foliaceus
  5. Pemphigus vulgaris
Board review style answer #2
A. Grover disease. Grover disease has multiple histopathologic patterns including those with Darier type histology. All other options lack typical corp rond and grain formation.

Comment Here

Reference: Darier disease
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