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ONLINE ONLY - CASE REPORT
Year : 2022  |  Volume : 6  |  Issue : 1  |  Page : 57

Porokeratoses – all in one: A coexistence of clinical variants


Department of Dermatology, Venereology and Leprosy, Gujarat Cancer Society (GCS) Medical College, Hospital and Research Centre, Ahmedabad, Gujarat, India

Date of Submission17-Aug-2020
Date of Decision23-Nov-2020
Date of Acceptance02-Jan-2021
Date of Web Publication25-Feb-2022

Correspondence Address:
Kalgi Baxi
Room No-35, Department of Dermatology, Venereology and Leprosy, Gujarat Cancer Society Medical College, Hospital and Research Centre, Ahmedabad, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/CDR.CDR_114_20

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  Abstract 


Porokeratosis (PK) is an autosomal dominant disorder characterized by abnormal epidermal proliferation. Several clinical variants have been described, but coexistence of multiple variants in a single patient has been reported in only a few cases. We hereby report a case of multiple variants of PK (disseminated superficial actinic porokeratosis over the face and the scalp presenting with scarring alopecia and verrucous PK over genital mucosa) involving multiple unusual body sites in a single patient.

Keywords: Disseminated superficial actinic porokeratosis, scarring alopecia, verrucous porokeratosis


How to cite this article:
Baxi K, Patel AP, Chandibhamar VS, Trivedi N, Patel NH, Raval RC. Porokeratoses – all in one: A coexistence of clinical variants. Clin Dermatol Rev 2022;6:57

How to cite this URL:
Baxi K, Patel AP, Chandibhamar VS, Trivedi N, Patel NH, Raval RC. Porokeratoses – all in one: A coexistence of clinical variants. Clin Dermatol Rev [serial online] 2022 [cited 2022 May 22];6:57. Available from: https://www.cdriadvlkn.org/text.asp?2022/6/1/57/338579




  Introduction Top


Porokeratosis (PK) is an autosomal dominant disorder characterized by abnormal epidermal proliferation. Several clinical variants of PK have been described, namely disseminated superficial actinic porokeratosis (DSAP), classical porokeratosis of Mibelli (PM), PK palmaris plantaris et disseminatum (PPPD), and linear PK. In addition, more rare variants include genitogluteal PK, facial PK, giant PK, PK ptychotropica, hypertrophic verrucous PK, eruptive pruritic papular PK, follicular PK, and reticulate PK.[1] Coexistence of variants has been described, but only in a handful of cases reported so far.

PK most commonly occurs in the limbs and trunk but can occur in the trunk, face, and genitourinary region (areas of repeated frictional exposure), and scrotum.[2] We hereby report a case of multiple variants of PK involving multiple body sites in a single patient.


  Case Report Top


A 70-year-old female patient presented to the dermatology outpatient department with chief complaints of pruritic skin lesions over the genitals and sides of the trunk for the past 6 years and a pruritic patch of hair loss, with a progressive increase in size, over the scalp for the past 3 years. The patient was a known case of diabetes mellitus with left lung fibrosis due to old pulmonary tuberculosis. No family history of tuberculosis was present.

Cutaneous examination revealed a single, well-demarcated plaque of cicatricial alopecia, with few plugged follicular openings and a raised, discontinuous, hyperpigmented border [Figure 1]a. Multiple, discrete, hyperpigmented annular plaques with a raised, thread-like border were present over the entire face [Figure 1]b. Multiple annular plaques with a verrucous margin were present over the folds of the trunk, mons pubis, labia majora as well as the genital mucosa [Figure 2]. Palms, soles, other body sites, and mucosal examination were normal. Skin biopsy was taken from the genital lesion considering the differential diagnosis of verrucous PK and hypertrophic lichen planus. Histopathological examination from the genital lesion showed a typical parakeratotic column in the epidermis surrounding keratin filled invaginations – the classical coronoid lamella, with papillomatosis and hyperkeratosis [Figure 3]. Based on clinicopathological findings, the diagnosis of verrucous PK was confirmed. The patient thus had a unique clinical presentation with coexisting DSAP over the face and the scalp presenting with scarring alopecia and verrucous PK over the genital mucosa. The patient was started on oral isotretinoin 30 mg/day.
Figure 1: (a) Single, well-demarcated plaque of cicatricial alopecia, with few plugged Follicular openings, and a raised, discontinuous, hyperpigmented border. (b) Multiple, discrete, hyperpigmented annular plaques with a raised, thread-like border over the entire face

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Figure 2: Multiple annular plaques with a verrucous margin over the folds of the trunk, mons pubis, labia majora, and genital mucosa

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Figure 3: Typical parakeratotic column in the epidermis surrounding keratin filled invaginations – the classical coronoid lamella, with papillomatosis and hyperkeratosis (H and E, ×10)

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  Discussion Top


In the 19th century, Vittorio Mibelli described a new keratotic disorder, which he named PM . Different variants of PK have been subsequently described, each with its own unique properties.[3] PK is an entity that results from disordered progression of epidermal cells.[4] The etiology and pathogenesis of PK are complex and multifactorial. At present, genetic factors, ultraviolet light, trauma, immunosuppression, and infectious agents have been implicated in PK. Inheritance can be autosomal dominant or sporadic. It is usually seen in the age group of 20–30 years, with males being more commonly affected. Genetic mutations have been implicated in SSH1 gene on chromosome 12 (encodes for an enzyme which helps in actin dynamics), ARPC3 gene (involved in actin cytoskeleton pathway and interaction with adherent junctions in keratinocytes), and mevalonate kinase gene which helps in lipid metabolism.[5] Characteristically described as annular atrophic plaques with thread-like serpiginous border, many clinical variants of PK have been described such as PM, superficial disseminate, DSAP, linear PK, and punctate palmoplantar PK. Some atypical presentations such as hypertrophic, warty, nodular, giant, genital PK, PK ptychotropica, and porokeratoma have also been mentioned.[6] Of all the types, DSAP is the most commonly seen, with 15% of cases having lesions on the face. Genita l PK is a rare entity with only about 60 cases described in literature till date.[7] A case series of 10 cases of genital PK in Taiwan revealed that 30% had diabetes mellitus. Morphological variation has been seen in the few cases reported so far,[8] such as PM , verrucous hyperplasia, ulceroproliferative lesions, hyperkeratotic lesions, and PK ptychotropica. Histopathologically, PM shows a depression in the epidermis beneath the cornoid lamella. In DSAP, the intervening epidermis between two cornoid lamellae may be thinned and it shows a prominent lichenoid or superficial perivascular lymphocytic infiltrate. Linear and reticulate PK may show multiple cornoid lamellae. In PK ptychotropica, a unique pattern of multiple cornoid lamellae, which may be partially represented at different levels of the epidermis and arrayed at variable angles in relation to the epidermis, is seen. Verrucous PK shows prominent hyperkeratosis, which may clinically mask the cornoid lamella. In pigmented PK, there are melanocytic hyperplasia and dermal melanophages.

Genital PK clinically mimics hypertrophic lichen planus, condyloma acuminata, and tuberculosis verrucosa cutis, to name a few. Similarly, scalp lesions are also rare. Cases of isolated giant actinic solar PK,[9],[10] and DSAP of the scalp has been reported. The present case is distinguished by the presence of DSAP lesions predominantly over the face, verrucous lesions of the genitalia, scalp PK presenting with alopecia, and the coexistence of all these multiple variants in a single patient. The patient was a known case of diabetes mellitus and lung fibrosis and hence immunocompromised. The exact pathogenesis of the co-existence of different variants of PK in a single individual remains largely unknown. It is suggested that the similarities of clinical appearance and histological findings among different variants of PK in one patient may indicate different phenotypic expressions of a common genetic abnormality.[11] There are a few cases of coexistence of multiple variants in the same patient published, but no data are available on the exact incidence. Reported cases of mixed PK in literature mostly involve DSAP and linear varieties. Four cases of PM have been described in association with DSAP.[12] A solitary case of giant PK with PPPD has been described earlier.[13],[14] A similar case of head-to-toe presentation of various clinical variants of PK in a single patient has been reported in 2015.[15]


  Conclusion Top


Co-existence of variants of PK is rare although has been reported in literature. Clinical differential of PK has to be kept in mind for verrucous genital lesions.

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Joshi R, Minni K. Genitogluteal porokeratosis: A clinical review. Clin Cosmet Investig Dermatol 2018;11:219-29.  Back to cited text no. 1
    
2.
Williams GM, Fillman EP. Porokeratosis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2020.  Back to cited text no. 2
    
3.
Sertznig P, von Felbert V, Megahed M. Porokeratosis: Present concepts. J Eur Acad Dermatol Venereol 2012;26:404-12.  Back to cited text no. 3
    
4.
Wade TR, Ackerman AB. Cornoid lamellation. A histologic reaction pattern. Am J Dermatopathol 1980;2:5-15.  Back to cited text no. 4
    
5.
Sethi P, Kumari N, Adhlakha B, Kanwar AJ. Focal actinic porokeratosis: A new variant? Indian J Paediatr Dermatol 2018;19:272.  Back to cited text no. 5
  [Full text]  
6.
Hanumanthayya K, Magavi S, Tophakhane R, Rathod R. Coexistence of disseminated superficial and giant porokeratosis of Mibelli with squamous cell carcinoma. Indian J Dermatol Venereol Leprol 2003;69:296-7.  Back to cited text no. 6
[PUBMED]  [Full text]  
7.
Liang C, Batra P, Patel R, Kamino H. Genital porokeratosis. Dermatol Online J 2009;15:23.  Back to cited text no. 7
    
8.
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. 8
    
9.
Thomsen RJ, Ceilley RI, Zuehlke RL. Solitary actinic porokeratosis. J Cutan Pathol 1979;6:134-38.  Back to cited text no. 9
    
10.
Sidwell RU, Seet JE, Francis N, Bunker CB. Giant actinic porokeratosis of the scalp. Br J Dermatol 2003;149:654.  Back to cited text no. 10
    
11.
Mukhopadhyay AK. Simultaneous occurrence of disseminated superficial, linear and hypertrophic verrucous forms of porokeratosis in a child. Indian J Dermatol Venereol Leprol 2004;70:364.  Back to cited text no. 11
[PUBMED]  [Full text]  
12.
Vasudevan B, Chatterjee M, Grewal R, Rana V, Lodha N. A case of disseminated superficial porokeratosis associated with giant porokeratosis in pregnancy. Indian J Dermatol 2014;59:492-4.  Back to cited text no. 12
[PUBMED]  [Full text]  
13.
Dover JS, Phillips TJ, Burns DA, Krafchik BR. Disseminated superficial actinic porokeratosis. Coexistence with other porokeratotic variants. Arch Dermatol 1986;122:887-9.  Back to cited text no. 13
    
14.
Mehta V, Balachandran C. Simultaneous co-occurrence of porokeratosis of Mibelli with disseminated superficial actinic porokeratosis. Indian J Dermatol 2009;54:390-1.  Back to cited text no. 14
[PUBMED]  [Full text]  
15.
Bhaskar S, Jaiswal AK, Raj N, Reddy D. Porokeratosis - Head to toe: An unusual presentation. Indian Dermatol Online J 2015;6:101-4.  Back to cited text no. 15
[PUBMED]  [Full text]  


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  [Figure 1], [Figure 2], [Figure 3]



 

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