|Year : 2020 | Volume
| Issue : 3 | Page : 221-223
Report of an autosomal recessive epidermolytic ichthyosis
KS Chandan, SR Ashitha, Sachin Somashekhar, L Shishira
Department of DVL, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
|Date of Submission||23-Oct-2019|
|Date of Decision||16-Nov-2019|
|Date of Acceptance||26-Apr-2020|
|Date of Web Publication||30-Jun-2020|
Dr. K S Chandan
Department of DVL, Bangalore Medical College and Research Institute, Bengaluru, Karnataka
Source of Support: None, Conflict of Interest: None
Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. It is usually inherited in an autosomal-dominant fashion and is caused by the mutations in the genes KRT1 and KRT10, coding for the proteins keratin 1 and keratin 10, respectively. To date, only six recessive KRT10 mutations have been shown to cause autosomal-recessive EI, all of which have been found to lead to the complete absence of the keratin 10 protein. To the best of our knowledge, this is the first such case report from India.
Keywords: Congenital ichthyosiform erythroderma, epidermolytic hyperkeratosis, epidermolytic ichthyosis
|How to cite this article:|
Chandan K S, Ashitha S R, Somashekhar S, Shishira L. Report of an autosomal recessive epidermolytic ichthyosis. Indian J Paediatr Dermatol 2020;21:221-3
|How to cite this URL:|
Chandan K S, Ashitha S R, Somashekhar S, Shishira L. Report of an autosomal recessive epidermolytic ichthyosis. Indian J Paediatr Dermatol [serial online] 2020 [cited 2021 May 6];21:221-3. Available from: https://www.ijpd.in/text.asp?2020/21/3/221/288480
| Introduction|| |
Epidermolytic ichthyosis (EI) is a form of congenital ichthyosis characterized at birth with blistering, redness, and peeling replaced by progressive hyperkeratosis with or without erythroderma. EI is rare, with an estimated incidence of 1 in 350,000. It is usually inherited in an autosomal-dominant fashion and is caused by the mutations in the genes KRT1 and KRT10, coding for the proteins keratin 1 and keratin 10, respectively. Palmoplantar involvement is usually associated with KRT1 mutations known as palm/sole hyperkeratosis (PS) type and is rare with KRT10 mutations known as no PS hyperkeratosis (NPS) type. To date, only six recessive KRT10 mutations have been shown to cause autosomal-recessive EI, all of which have been found to lead to the complete absence of the keratin 10 protein.
| Case Report|| |
A 13-year-old boy accompanied by his father presented with a history of generalized erythematous scaly lesions since birth which evolved into thick brown-colored spiny scales with exacerbations and remissions later in life with no apparent aggravating factors. The patient was born to the healthy parents of Rajasthani origin with second-degree consanguineous marriage. His elder sister was also born with similar lesions, and his younger brother is healthy. His maternal uncle who had similar lesions was also born to second-degree consanguineous marriage, died at the age of 45 due to unrelated cause [Figure 1]. On physical examination, the patient was found to have thick brown-colored spiny scales (hystrix type scales) [Figure 2] involving almost the entire body [Figure 3] and [Figure 4] with complete sparing of PS. Histopathology of the lesion demonstrated epidermal hyperkeratosis, acanthosis, vacuolar degeneration of suprabasal keratinocytes, and coarse keratohyaline granules seen in most of the keratinocytes [Figure 5]. Based on history, clinical and histopathological findings, the patient was diagnosed clinically with autosomal-recessive EI type NPS1. Genetic testing could not be done because of lack of funding. He was treated with oral acitretin and topical emollients; we lost the patient for follow-up.
|Figure 1: Familial pedigree. Three members were affected (black), and one patient was deceased in the previous generation (black, cross). Proband indicated with arrow|
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|Figure 2: Brown-colored spiny scales (hystrix type scales) on the lower limbs|
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|Figure 3: Generalized erythema with brown- colored spiny scales on the chest, abdomen, and upper limbs|
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|Figure 5: A skin biopsy obtained from the patient demonstrated epidermal hyperkeratosis, acanthosis, vacuolar degeneration of suprabasal keratinocytes, and coarse keratohyaline granules seen in most of the keratinocytes (H and E, ×40)|
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| Discussion|| |
EI previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with variable defect of cornification, clinically characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. EI causing mutations compromise keratin alignment and assembly of intermediate filaments in suprabasal keratinocytes, leading to keratin clumping, cytolysis, cellular collapse, blistering, and impaired barrier function.
Müller et al. were the first to describe autosomal-recessive EI in 2006. Since then, there are six case reports worldwide. All mutations reported to date in recessive EI are located in the alpha-helical rod domain-encoding gene region (c.T846A, c.1155+5G>A, c.1281_1282CC>AA, c.c1300T and c.1325insC) and in the head domain-encoding part of the gene region (c.33_34delinsGTAG). The absence of lesions in both his parents, similar history in his other family members (maternal uncle and elder sister) suggests autosomal-recessive inheritance pattern. In this patient, who displayed the clinical and histopathological features typical of EI, the absence of palmoplantar involvement with generalized hystrix-like spiky scales and absence of erythroderma suggests type NPS1 with mutation in KRT10 gene., Terrinoni et al. in 2018 showed additional roles of KRT1- and KRT10-associated mutations in the development of a rare manifestation of EI-ichthyosis hystrix of Curth-Macklin; this cooccurrence is not common. There are six subtypes of EI, types without severe palmoplantar hyperkeratosis NPS1, NPS2, and NPS3; types with palmoplantar hyperkeratosis PS1, PS2, and PS3 whose characteristics are described in [Table 1].
The histopathologic features of EI include hyperkeratosis, hypergranulosis, and epidermolysis. Within the areas of epidermolysis are characteristic epidermal cells with perinuclear vacuolization with indistinct peripheral boundaries. By light microscopy, the boundaries appear to be formed by eosinophilic and basophilic granules. These histological features are characteristic for patients with generalized EI. Although there are few case reports of EI where typical epidermolytic hyperkeratosis features may not be seen in histopathology. The therapy for EI is quite assertive as hyperkeratosis must be decreased to limit the distorting and putrid scales, which harbor numerous microorganisms. Topical keratolytics if given in higher concentration can aggravate the condition by upsetting the epidermal obstruction further expanding the danger of excruciating blisters and skin disintegrations inclined to the disease. Topical formulations containing urea, lactic acid, glycolic acid, glycerol, paraffin, propylene glycol, ammonium lactate, salicylic acid, tazarotene, N-acetyl-cysteine, and calcipotriol have found some success.,, It has been discovered that retinoid treatment, given topically as tretinoin, tazarotene or adapalene, and especially oral acitretin, is more viable in patients with mutations in KRT10 in contrast with those with changes in KRT1.
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
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]