A double whammy! Rare occurrence of psoriasis vulgaris in a case of X-linked recessive ichthyosis

Akshay Kumar Jain; Shivani Saini; Nidhi Agrawal; Shail Agarwal

doi:10.4103/ijpd.ijpd_167_20

CASE REPORT

Year : 2021 | Volume : 22 | Issue : 2 | Page : 165-167

A double whammy! Rare occurrence of psoriasis vulgaris in a case of X-linked recessive ichthyosis

Akshay Kumar Jain¹, Shivani Saini², Nidhi Agrawal³, Shail Agarwal⁴
¹ Department of Skin and VD, Government Medical College, Kota, Rajasthan, India
² Department of Skin and VD, Dr. SN Medical College, Jodhpur, Rajasthan, India
³ Department of Pathology, Government Medical College, Kota, Rajasthan, India
⁴ Department of Skin and VD, Jhalawar Medical College, Jhalawar, Rajasthan, India

Date of Submission	20-Nov-2020
Date of Decision	08-Jan-2021
Date of Acceptance	07-Feb-2021
Date of Web Publication	31-Mar-2021

Correspondence Address:
Shivani Saini
Department of Skin and VD, Dr. SN Medical College, Jodhpur, Rajasthan
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/ijpd.ijpd_167_20

Abstract

Ichthyosis and psoriasis both are inherently considered as disorders of abnormal keratinization. X-linked recessive ichthyosis (XLRI) is a genetic disorder, while psoriasis is sporadic in most cases. The underlying pathophysiology for their occurrence in the same patient is not well understood but may be attributed to genetic modifications or epigenetics. We hereby report a case of a 14-year-old male child with psoriasis vulgaris in the setting of XLRI. To our best knowledge, it has not been reported in the English literature to date.

Keywords: Epigenetics, genetic, psoriasis vulgaris, X-linked recessive ichthyosis

How to cite this article:
Jain AK, Saini S, Agrawal N, Agarwal S. A double whammy! Rare occurrence of psoriasis vulgaris in a case of X-linked recessive ichthyosis. Indian J Paediatr Dermatol 2021;22:165-7

How to cite this URL:
Jain AK, Saini S, Agrawal N, Agarwal S. A double whammy! Rare occurrence of psoriasis vulgaris in a case of X-linked recessive ichthyosis. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Apr 22];22:165-7. Available from: https://www.ijpd.in/text.asp?2021/22/2/165/312819

Introduction

As psoriasis is a chronic inflammatory dermatosis with sporadic occurrence in most cases, but it is also consistent with multifactorial pattern of inheritance. Psoriasis and ichthyosis are the conditions of cornification, a complex group of genetic, dry, and scaly skin disorders. Combination of these two conditions in a single patient makes it rare and interesting.

Case Report

A 14-year-old male child was brought to the dermatology outpatient department with the complaints of brownish-black patches scattered over the body since the age of 1 year. His history revealed the presence of redness and scaling all over the body at birth, which slowly regressed within 3–4 weeks. Four to five months thereafter, he started developing brown to black raised lesions scattered all over the body, predominantly over the scalp, side of the face, neck, anterior aspect of extremities, and extensors, sparing the antecubital and popliteal fossa. Desquamation was mild in summers but got aggravated by cold and dry weather. He also complained of whitish-yellow flakes dropping down from the scalp associated with itching. After 1–2 months, red raised lesions of variable size developed all over the body, predominantly over the extensor areas. His maternal cousin and uncle had a history of having similar lesions related to X-linked recessive ichthyosis (XLRI) with its onset by approximately 2–3 years of age.

On examination, there were multiple hyperpigmented, tightly adherent, diffuse polygonal scales present over the scalp, preauricular areas, side of neck, anterior and posterior trunk, and extensors of extremities, sparing the flexural areas. Erythematous plaques of variable sizes associated with silvery scales were also present scattered between polygonal scales, but not over scales [Figure 1]a, [Figure 1]b, [Figure 1]c. On asking, a history of prolonged labor was present in his mother. A thorough physical and systemic examination excluded any other association. All routine investigations including complete blood count, erythrocyte sedimentation rate, C-reactive protein, liver function tests, and renal function tests were done and were normal. Genital and ocular examination was done to rule out cryptorchidism and corneal abnormalities. Skin biopsy from the polygonal scales and erythematous plaque was performed. Histopathology of the polygonal scale showed compact hyperkeratosis, thickened granular layer, and irregular rete ridges with mild lymphohistiocytic infiltrate in the dermis which were in favor of XLRI [Figure 2]a and [Figure 2]b. Biopsy from the erythematous plaque revealed regular thickening of stratum corneum, parakeratosis with neutrophils, hypogranulosis, regularly spaced and long rete ridges extending down to the dermis, and suprapapillary thinning with periadnexal dermal infiltrates which confirmed the diagnosis of psoriasis [Figure 3]a and [Figure 3]b.

Figure 1: (a-c) Hyperpigmented, tightly adherent, diffuse polygonal scales present over the scalp, preauricular areas, side of neck, anterior and posterior trunk, and extensors of extremities, sparing the flexural areas. Further, well-demarcated erythematous plaques with silvery scales are present in between areas

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Figure 2: Histopathology of the polygonal scale showing compact hyperkeratosis, thickened granular layer and irregular rete ridges with mild lymphohistiocytic infiltrate in the dermis which were in favor of X-linked recessive ichthyosis (H and E stain: a, ×4; b, ×10)

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Figure 3: Biopsy from the erythematous plaque revealed regular thickening of stratum corneum, parakeratosis with neutrophils, hypogranulosis, regularly spaced and long rete ridges extending down to the dermis, and suprapapillary thinning with periadnexal dermal infiltrates which confirmed the diagnosis of psoriasis (H and E stain: a, ×4; b, ×10)

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A complete diagnosis of XLRI with psoriasis vulgaris was made based on clinico-histopathological correlation. Topical therapy in the form of potent topical corticosteroids and bland emollients was advised.

Discussion

XLRI is a genetic skin disorder described by. Wells and Kerr in 1965,^[1] in which a deficiency in steroid sulfatase (STS gene, Xp22.3) is responsible for abnormal cutaneous scaling. It occurs exclusively in males. The incidence is reported as 1 out of 2500–6000 births.^[2],[3] Retention hyperkeratosis is caused by the absence of STS activity, as STS hydrolyzes steroid sulfatase to their unconjugated forms and participates in the regulation of barrier permeability and desquamation. Clinical features usually appear at birth, which includes mild, diffuse scaling developing over time with larger polygonal scales, affecting mainly extensor surfaces of upper arms, abdomen, outer thighs, and around the lower legs.^[1] In contrast to ichthyosis vulgaris, the face, scalp, axilla, and flexor aspects of the limbs show light gray scaling sparing palms and soles. Extracutaneous features include mild corneal opacities (in 25%–50% adult patients), cryptorchidism (10%–20%), and increased risk of testicular cancer.^[4],[5] In XLRI, accumulation of cholesterol sulfate leads to epidermal barrier instability and inhibits desmosomal degradation, therefore causing corneocyte retention.^[6],[7]

Psoriasis vulgaris is a chronic inflammatory disease, characterized by well-demarcated erythematous papules and plaques associated with silvery scales and mild-to-moderate pruritus.^[8] Data suggest that prevalence of psoriasis varies from 0.2% to 4.8%.^[9] There are immune-mediated (T-cells) keratinocyte hyperproliferation and differentiation, which can be initiated by an inborn exaggerated response to still unknown stimuli. This is also maintained by persistent stimulation of the T-helper lymphocytes in genetically predisposed cases.^[9] The diagnosis is confirmed on histopathology after the classical clinical presentation. Treatment options for childhood psoriasis include topical formulations (corticosteroids, Vitamin D3 analog, keratinolytics, etc.), phototherapy, and systemic drugs (methotrexate, acitretin, cyclosporine, etc.).

In our case, the child presented with XLRI and psoriasis vulgaris. On the one hand, XLRI is of genetic predisposition only, while psoriasis vulgaris has reported links to genetic inheritance in a few cases. As the pathophysiology of their occurrence in a single patient is not well established, it may be hypothesized as an impact of genetic predisposition or as a component of genetic mosaicism. Further research is required to truly elucidate the occurrence of both diseases in the same individual.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient's parents have given his consent for his images and other clinical information to be reported in the journal. The patient's parents understand that his 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

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