Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis

Akhyani, Maryam; Kiavash, Katrin; Kamyab, Kambiz

doi:10.1111/j.1365-4632.2009.03569.x

Cited by 6 publications

(3 citation statements)

References 11 publications

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“…1,3,7-10 The disease was previously known as epidermolytic hyperkeratosis or congenital bullous ichthyosiform erythroderma of Brocq. 5,9 The new nomenclature was suggested in a 2009 expert consensus document for specificity reasons, as epidermolytic hyperkeratosis is a histopathological term that can also be used to describe other diseases.…”

Section: Discussionmentioning

confidence: 99%

Mosaic epidermolytic ichthyosis - case report

Mendes

Kouzak

Aquino

et al. 2013

An. Bras. Dermatol.

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Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.

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Section: Discussionmentioning

confidence: 99%

Mosaic epidermolytic ichthyosis - case report

Mendes

Kouzak

Aquino

et al. 2013

An. Bras. Dermatol.

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“…However, these sophisticated tools are not available in most developing countries, including Yemen. It has been observed that parents with verrucous epidermal nevi, which represent somatic mosaicism for a keratin gene mutation, may have offspring with EHK [8] .…”

Section: Epidermolytic Hyperkeratosismentioning

confidence: 99%

Epidermolytic Hyperkeratosis: A Case Report from Yemen

Alshami¹

2016

IDVR

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Epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma of Brocq, is a rare autosomal dominant disorder of cornification with a prevalence of 1:100,000 to 1:300,000, which affects both sexes equally, with high rates of spontaneous mutations occurring in up to 50% of the cases. The name "epidermolytic hyperkeratosis" was introduced by Frost and Van Scott for the autosomal dominant blistering form of congenital ichthyosis [1]. It presents at birth with generalized erythema, blisters, and erosions. In the months after birth, erythema and blistering decrease, while hyperkeratotic scaling that is especially prominent over the joints, neck, and dorsum of hands and feet increases. The condition is caused by mutations in either keratin 1 or keratin 10 gene, located on chromosome 12 or 17, respectively [2]. Treatment options are very limited and include urea or alpha-hydroxy acid containing creams as well as topical and systemic retinoids. Case Report A 10-year-old girl presented to the department of dermatology at the University Hospital in Sana'a, Yemen, with dirty brown, corrugated hyperkeratotic plaques distributed all over her body, most prominent over joint flexures, dorsal hands and feet, and neck. Similar lesions arranged in a cobblestone pattern were visible over the knees, elbows, and dorsum of hands and feet. The palms, soles, and central face were not affected. Her condition started at birth with generalized erythroderma and trauma-related blistering. By the age of 3 years, she developed dirty brown, corrugated hyperkeratotic plaques mainly over her joint flexures. Although she continued to develop erythema and blisters, such episodes decreased in severity and frequency with age. As the hyperkeratosis became more prominent, the skin developed a foul odor. Physical examination revealed thickened, brown, dirty hyperkeratotic corrugated plaques distributed over the neck, back, and flexural surfaces of her arms and legs (Figure. 1-6), affecting approximately 95% of her body surface area (Figure. 1,5,6). Areas of mild erythema with minimal scaling were evident on her left lower (Figure. 4,6) and upper limbs (Figure. 2). Her scalp hairs were enclosed within whitish thick scales resembling pityriasis amiantacea.

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“…EI is a keratinization disorder that is generally inherited as an autosomal dominant trait with complete penetrance, although reports of recessive inheritance have been described . It affects both sexes equally .…”

Section: Reportmentioning

confidence: 99%

AKRT1gene mutation related to epidermolytic ichthyosis in a Chinese family

Bai

Wang

et al. 2015

Clin Exp Dermatol

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We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14-year-old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. We analysed all exons and flanking sequences of the KRT1 and KRT10 genes using PCR, and found that the proband and his mother had a G>C transition at nucleotide position 1432 in exon 7 of KRT1, resulting in an amino acid substitution of glutamate (GAA) to glutamine (CAA) at codon 478 (E478Q). The KRT10 gene had no mutations.

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Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis

Cited by 6 publications

References 11 publications

Mosaic epidermolytic ichthyosis - case report

Mosaic epidermolytic ichthyosis - case report

Epidermolytic Hyperkeratosis: A Case Report from Yemen

AKRT1gene mutation related to epidermolytic ichthyosis in a Chinese family

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