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Year : 2021  |  Volume : 8  |  Issue : 1  |  Page : 83-85

Segmental Darier’s disease, a rare disorder of keratinization: a case report

1 Department of Pathology & Lab Medicine, All India Institute of Medical Sciences (AIIMS), Bhopal, Madhya Pradesh, India
2 Department of Pathology, MGM Medical College & Hospital, Kamothe, Navi Mumbai, Maharashtra, India

Date of Submission31-Aug-2020
Date of Decision04-Dec-2020
Date of Acceptance04-Dec-2020
Date of Web Publication16-Mar-2021

Correspondence Address:
Dr. Abeer M Ilyas
Department of Pathology & Lab Medicine, All India Institute of Medical Sciences (AIIMS), Bhopal, Madhya Pradesh.
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mgmj.mgmj_77_20

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We present a case of Darier disease which is a rare autosomal-dominant genodermatosis. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas. A 30-year-old male came with complaints of papules that were restricted to the lateral aspect of the trunk on the right side and right underarm area. Histopathological examination showed the acanthosis of the epidermis with premature keratosis and suprabasal acantholysis. Darier’s disease must be distinguished histologically from other acantholytic dyskeratoses. It has been observed that biopsy is fundamental to make the final diagnosis. However, a multidisciplinary approach is required to treat affected patients.

Keywords: Autosomal dominant, darier disease, keratosis follicularis, suprabasal clefts

How to cite this article:
Ilyas AM, Maheswari U. Segmental Darier’s disease, a rare disorder of keratinization: a case report. MGM J Med Sci 2021;8:83-5

How to cite this URL:
Ilyas AM, Maheswari U. Segmental Darier’s disease, a rare disorder of keratinization: a case report. MGM J Med Sci [serial online] 2021 [cited 2022 May 17];8:83-5. Available from: http://www.mgmjms.com/text.asp?2021/8/1/83/311384

  Introduction Top

Darier’s disease (DD), also known as keratosis follicularis or Darier–White disease, is a rare autosomal-dominant, keratinization disorder. Although it is a genetically inherited disease, most of the patients do not give a positive family history.[1] It is clinically characterized by greasy, crusted, yellow-brown warty papules and plaques particularly over sun-exposed areas affecting mainly the head, neck, thorax, palms, foot, and less-frequently oral mucosa.[2],[3]

Initially, the disease was first described by Prince Marrow in 1886 and later independently around that time by Darier and White in 1889. This disease is caused by a mutation in the ATP 2A gene at chromosome 12q23-24.1,[4] which encodes the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase type 2 protein (SERCA2). On histology, it shows characteristic dyskeratosis in the spinous layer (corps ronds) and stratum corneum (grains), suprabasal acantholysis, and clefts (lacunae). The underlying dermis is covered by a single layer of epithelium (stratum basale).[4] Here, we present a rare case of segmental form of DD which is characterized by localized areas of the skin.

  Case history Top

A 30-year-old male came to the dermatology OPD with complaints of papules diffusely present over the lateral side of the trunk. Examination revealed multiple discrete, reddish-brown papules that were restricted to only the lateral aspect of the trunk on the right side and right underarm area [Figure 1]. The lesion was restricted to the above-described area and the remaining part of the body including the scalp and nails was unremarkable. Skin biopsy from the trunk area was received in the department of pathology. Histopathology examination revealed the presence of epidermis with acanthosis, premature keratosis, and suprabasal acantholysis. A group of dyskeratotic cells was seen in stratum Malpighi (corps ronds) and stratum corneum (grains) [Figure 2]A and [B].
Figure 1: Discrete, scaly papules over lateral aspect of trunk

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Figure 2: (A) Skin biopsy of DD showing hyperkeratosis, suprabasal cleft, acantholytic cells (thin arrow) along with corps ronds, grains (thick arrow) (H&E ×40). (B) Skin Biopsy of DD showing hyperkeratosis, corps ronds, and grains. (H&E ×200)

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  Discussion Top

Darier’s disease is an autosomal-dominant disease. The incidence of the disease is reported to be four new cases per million, over 10 years.[1] It occurs in two forms; milder form is seen in adults and severe form commonly seen in children. The disease persists throughout life and runs a chronic relapsing course without affecting the general health of the affected individual.[4] Precipitating factors include heat, humidity, mechanical trauma, secondary bacterial infections, and menstruation.[5],[6] Ca2+ is required for the accurate functioning of the cells. They are also responsible for the adhesion of desmosomes and maintaining stability. Mutation in the ATP2A2 gene encodes the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase type 2 protein (SERCA2) which is a Calcium pump. SERCA2b, an isoform, reduction leads to abnormal intracellular Ca2+ signaling and defect in cell adhesion.[7] Electron microscopy reveals the loss and breakdown of desmosomes and the accumulation of keratin intermediate filaments in the perinuclear region.[8] Darier’s disease must be distinguished histologically from another acantholytic dyskeratosis, such as Hailey-Hailey disease (HHD) and pemphigus Vulgaris. In HHD, acantholysis is incomplete, causing the well-known “dilapidated brick wall” appearance of the lower epidermis.[9] Even though both are autosomal-dominant calcium pump (ATPase) disorders and share some clinical and histological similarities they have different genotypes. Cell necrosis is more commonly seen in pemphigus Vulgaris.[10]

  Conclusion Top

Quality of life is impaired due to pain, pruritus, and the tendency to infections. Medical therapy includes the utilization of systemic retinoids due to their efficacy. More radical treatments have been reported, including surgical excision, abrasion, application of carbon dioxide, and laser. Photodynamic therapy has been also considered. Since sweating is a well-established aggravating factor, botulism toxin is already used in clinical practice which acts via decreased sweat secretion.[11]

A biopsy is fundamental to make the final diagnosis. Even though the present case is not a severe form of Darier’s disease, all patients should receive genetic counseling and should be educated regarding the risk of transmission to offspring. They should be aware of the complications and care to be taken. Also, the emotional standing of the patient must be evaluated. The treatment of these patients is through a multidisciplinary approach.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause darier disease. Nat Genet 1999;21:271-7.  Back to cited text no. 1
Weedon D Weedon’s Skin Pathology. 3rd ed. London: Churchill Livingstone; 2010. p. 1060.  Back to cited text no. 2
Neville BW, Damm DD, Allen CM, Bouquot JE, editors. Patologia Oral & Maxilofacial. Rio de Janeiro: Guanabara Koogan; 2002. pp. 625-6.  Back to cited text no. 3
Judge MR, McLean WHI, Munro CS Disorders of keratinization. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s Textbook of Dermatology, 8th ed. Vol. 1. Massachusetts, Oxford, Victoria: Blackwell Science; 2010. p. 19:81-6.  Back to cited text no. 4
Ferris T, Lamey PJ, Rennie JS Darier’s disease: Oral features and genetic aspects. Br Dent J 1990;168:71-3.  Back to cited text no. 5
Kwok PY, Millsop JW, Bhutani T, Liao W Keratosis follicularis (Darier disease). Updated on October 1, 2010. Available at : 25 MEDSCAPE: https://emedicine.medscape.com/article/1107340-overview. (Last accessed on October 4, 2020).  Back to cited text no. 6
Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM Calcium pumps and keratinocytes: Lessons from darier’s disease and hailey-hailey disease. Br J Dermatol 2004;150:821-8.  Back to cited text no. 7
Müller EJ, Caldelari R, Kolly C, Williamson L, Baumann D, Richard G, et al. Consequences of depleted SERCA2-gated calcium stores in the skin. J Invest Dermatol 2006;126:721-31.  Back to cited text no. 8
McKee PH Pathology of the Skin with Clinical Correlations. 2nd ed. St. Louis, MO: Mosby-Wolfe; 1996. p. 848.  Back to cited text no. 9
Jalil AA, Zain RB, van der Waal I Darier disease: A case report. Br J Oral Maxillofac Surg 2005;43:336-8.  Back to cited text no. 10
ClinicalTrials.gov Database. Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. Bethesda, MD: US National Library of Medicine. Available at: https://clinicaltrials.gov/ct2/home. (Last accessed on October 4, 2020).  Back to cited text no. 11


  [Figure 1], [Figure 2]


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