• Users Online: 170
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 


 
 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 14  |  Issue : 4  |  Page : 410-413

Coexistence of darier's disease and porokeratosis: A rare presentation


Department of Dermatology, Venereology and Leprology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, Maharashtra, India

Date of Submission27-Jun-2019
Date of Decision30-Oct-2019
Date of Acceptance15-Nov-2019
Date of Web Publication16-Jul-2020

Correspondence Address:
Dr. Palak Kedia
Department of Dermatology, Venereology and Leprology, Jawaharlal Nehru Medical College, Sawangi (Meghe), Wardha, Maharashtra
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jdmimsu.jdmimsu_100_19

Rights and Permissions
  Abstract 


Darier's disease and porokeratosis are both autosomal dominant genodermatosis characterized by disorder of keratinization. Hereby, we report a case of co-existing Darier's disease and Porokeratosis in an elderly male.

Keywords: ATP2A2 gene, chromosome 12q23-24.1, Darier disease, porokeratosis


How to cite this article:
Kedia P, Madke B, Kulkarni S, Singh A. Coexistence of darier's disease and porokeratosis: A rare presentation. J Datta Meghe Inst Med Sci Univ 2019;14:410-3

How to cite this URL:
Kedia P, Madke B, Kulkarni S, Singh A. Coexistence of darier's disease and porokeratosis: A rare presentation. J Datta Meghe Inst Med Sci Univ [serial online] 2019 [cited 2020 Aug 14];14:410-3. Available from: http://www.journaldmims.com/text.asp?2019/14/4/410/289780




  Introduction Top


Darier's disease (keratosis follicularis, Darier–White disease) is a rare autosomal dominant genodermatosis.[1] It is a disorder of keratinization presenting clinically as hyperkeratotic, dirty, warty, itchy, crusted papules, and plaques.[1] It occurs preferentially in seborrheic distribution involving scalp, face, lateral aspects of neck and trunk.[2] It is caused by mutation in ATP2A2 gene, located on chromosome 12q23-24.1, which encodes for the sarco-endoplasmic reticulum calcium ATPase type 2 isoform (SERCA2).[3]

Porokeratosis is another autosomal dominant disorder of epidermal keratinization. It presents as keratotic papules or plaques with an atrophic center surrounded by a clinically and histologically distinctive hyperkeratotic, thread like elevated border which is grooved and expands centrifugally.[4] Mutations at multiple genetic loci have been identified causing porokeratosis.

Co-existence of both these genodermatosis has not been reported in the literature.


  Case Report Top


A 72-year-old immunocompetent male presented with multiple, insidious onset, itchy dark colored raised lesions over trunk, both upper limbs, face and scalp since 30 years [Figure 1] and [Figure 2]. The condition started first as few lesions over chest, which gradually progressed to involve trunk, both upper limbs, face, and scalp over a period of 15 years. The patient also noticed development of brown-colored lesions with raised borders on both upper limbs since the past 6 years [Figure 3] and [Figure 4]. On cutaneous examination, multiple, dirty, warty brown papules were seen along seborrheic distribution with confluent areas of brown black pigmentation over neck. The size of the lesions ranged from 0.5 cm × 0.5 cm to 1 cm × 1 cm. Furthermore, there were multiple round to oval brown-colored papules with elevated borders over both upper limbs, mostly flexural aspect. His elder son also had lesions with similar morphology and distribution.
Figure 1: Multiple, dirty, warty brown black papules over back

Click here to view
Figure 2: Multiple, dirty, warty brown black papules over chest and abdomen

Click here to view
Figure 3: Round to oval brown papules with elevated borders over shoulder

Click here to view
Figure 4: Round to oval brown papules with elevated borders over forearm

Click here to view


His serum biochemistry and urine examination were within normal limits. Biopsy was done from each of the representative lesions. On histopathological examination, suprabasal cleft was seen [Figure 5]. Corps ronds and grains representing dyskeratotic cells were also present [Figure 6]. Biopsy sample from the shoulder showed the characteristic cornoid lamella (thin column of tightly packed parakeratotic cells) with diminished granular layer beneath the parakeratotic column [Figure 7] and [Figure 8]. Thus, biopsy confirmed the diagnosis of Darier's disease and Porokeratosis, respectively.
Figure 5: H and E stained section (×10) shows suprabasal cleft

Click here to view
Figure 6: H and E stained section (×40) showing dyskeratotic cells

Click here to view
Figure 7: H and E stained section (×10) showing cornoid lamella with diminished granular layer beneath the parakeratotic column

Click here to view
Figure 8: H and E stained section (×40) showing cornoid lamella with diminished granular layer beneath the parakeratotic column

Click here to view


The patient was started on oral acitretin 25 mg twice a day and the patient is currently under follow-up till the writing of this manuscript.


  Discussion Top


Darier's disease and Porokeratosis are disorders of epidermal keratinization. Both of these are inherited by autosomal dominant mode.

Darier's disease is caused by mutation in ATP2A2 gene which encodes for sarcoplasmic reticulum calcium ATPase type 2 (SERCA2).[2] SERCA2 has mainly 2 isoforms, SERCA2a and SERCA2b, the latter of which is found in epidermis. SERCA pumps specifically maintain high calcium concentration in endoplasmic reticulum by actively transporting calcium from the cytosol into the sarco-endoplasmic reticulum lumen.[3] Mutations in the ATP2A2gene disrupt the normal SERCA2 protein function and leads to impaired loss of calcium transport in the endoplasmic reticulum. Calcium imbalance affects proper folding of secreted or membrane proteins such as desmosomal proteins.[3] This affects cell-to-cell adhesion in skin and could explain the Darier's disease skin phenotype.[2] The ATP2A2 gene is found to be located on chromosome 12q23-24.1.[5]

Porokeratosis is associated with mutations at multiple genetic loci such as 1q21.3, 12q24.11, 12q24.1-q24.2, and 16q24.2. Gene for disseminated superficial actinic porokeratosis is located on chromosome 12q23.2-24.1.[6]

Darier's disease was mapped to the region between D12S1339 and D12S2263 at chromosome 12q24.1 and about 2.8 cm away from D12S1605, distal border of locus for disseminated superficial actinic porokeratosis.[6] Vicinity of gene loci could possibly be used for hypothesizing the explanation of coexistence of Darier's disease and porokeratosis in same patient.[7],[8],[9],[10],[11]


  Conclusion Top


There has been hardly any case reported with combined clinical features of Darier's disease and Porokeratosis. This case is being presented to create awareness regarding this unusual presentation. Thorough clinical examination and vigilant observation may help overcoming diagnostic dilemmas posed by these atypical presentations.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Richard G, Wright AR, Harris S, Doyle SZ, Korge B, Mazzanti C, et al. Fine mapping of the Darier's disease locus on chromosome 12q. J Invest Dermatol 1994;103:665-8.  Back to cited text no. 1
    
2.
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. 2
    
3.
Pani B, Singh BB. Darier's disease: A calcium-signaling perspective. Cell Mol Life Sci 2008;65:205-11.  Back to cited text no. 3
    
4.
Gu CY, Zhang CF, Chen LJ, Xiang LH, Zheng ZZ. Clinical analysis and etiology of porokeratosis. Exp Ther Med 2014;8:737-41.  Back to cited text no. 4
    
5.
Craddock N, Dawson E, Burge S, Parfitt L, Mant B, Roberts Q, et al. The gene for Darier's disease maps to chromosome 12q23-q24.1. Hum Mol Genet 1993;2:1941-3.  Back to cited text no. 5
    
6.
Xia JH, Yang YF, Deng H, Tang BS, Tang DS, He YG, et al. Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. J Invest Dermatol 2000;114:1071-4.  Back to cited text no. 6
    
7.
Varyani UT, Shah NM, Shah PR, Kute VB, Balwani MR, Trivedi HL. C1q Nephropathy in a Patient of Neurofibromatosis Type 1: A Rare Case Report. Indian J Nephrol 2019;29:125-7. Available from: https://doi.org/10.4103/ijn.IJN_353_17. [Last accessed on 2019 Sep 13].  Back to cited text no. 7
    
8.
Swarnkar M, Jain SC. Heterotopic Subserosal Pancreatic Tissue in Jejunum-an Incidental Rare Finding. J Krishna Inst Med Sci Univ 2017;6:105-8.  Back to cited text no. 8
    
9.
Taksande A, Meshram R, Lohakare A. A Rare Presentation of Isolated Oculomotor Nerve Palsy Due to Multiple Sclerosis in a Child. Int J Pediatrics 2017;5:5525-29. Available from: https://doi.org/10.22038/ijp.2017.24602.2075. [Last accessed on 2019 Sep 13].  Back to cited text no. 9
    
10.
Taksande A, Meshram R, Yadav P, Borkar S, Lohkare A, Banode P. A Rare Case of Budd Chiari Syndrome in a Child. International Journal of Pediatrics 2017;5:5809-12. Available from: https://doi.org/10.22038/ijp.2017.25157.2131. [Last accessed on 2019 Sep 13].  Back to cited text no. 10
    
11.
Anjankar S. Askin's Tumor in Adult: A Rare Clinical Entity. J Datta Meghe Inst Med Sci Univ 2018;13:54-7. Available from: https://doi.org/10.4103/jdmimsu.jdmimsu_36_18. [Last accessed on 2019 Sep 13].  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Abstract
Introduction
Case Report
Discussion
Conclusion
References
Article Figures

 Article Access Statistics
    Viewed112    
    Printed5    
    Emailed0    
    PDF Downloaded9    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]