Epidermolysis Bullosa Pruriginosa Masquerading as Psychogenic Pruritus

Tey, Hong Liang; Lee, Andrew D.; Almaani, Noor; McGrath, John A.; Mills, Kyle C.; Yosipovitch, Gil

doi:10.1001/archdermatol.2011.189

Cited by 27 publications

(26 citation statements)

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“…[3][4][5][6][7][8][9] Comparing dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa, there is generally no clear genotype-phenotype correlation although skipping of exon 87 in the COL7A1 gene can be associated with the dominantly-inherited form of epidermolysis bullosa pruriginosa. [7][8][9] The novel dominant-negative heterozygous acceptor splice site mutation in the COL7A1 gene (IVS67-1G>T) was found in both our patient and his youngest son, who was 34 years old at the time of testing.…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa pruriginosa: A case with a novel mutation and co-existent lichen amyloidosus

Chen

Lee

Tey

2015

Indian J Dermatol Venereol Leprol

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Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa characterized by severely pruritic and cicatricial lesions localized to the extensor extremities. We report a Singaporean Chinese male with epidermolysis bullosa pruriginosa with an underlying novel mutation in the COL7A1 gene. A heterozygous acceptor splice site mutation IVS67-1G>T probably led to in-frame skipping of exon 68 (36-basepairs), resulting in a loss of 12 amino acids. Among his three children, only the youngest son, who had bilateral big toenail thickening, possessed the same mutation. His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. Our report highlights that the diagnosis of epidermolysis bullosa pruriginosa may be obscured when cutaneous amyloidosis is coexistent.

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Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa pruriginosa: A case with a novel mutation and co-existent lichen amyloidosus

Chen

Lee

Tey

2015

Indian J Dermatol Venereol Leprol

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“…Differences from usual EB include delayed presentation and absence of skin fragility or blisters, which can lead to delayed and missed diagnosis (9,6). Proband 1 and her twin sister had been misdiagnosed with hypertrophic lichen planus and prurigo nodularis for the previous 19 years.…”

Section: Discussionmentioning

confidence: 99%

“…At least 32 specific mutations within the collagen VII (COL7A1) gene have been identified in DEB-Pr (2)(3)(4)(5)(6), some overlapping with known mutations causing classic DEB (7). Patients have considerable phenotypic variation, even among those with the same genetic defect (4).…”

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Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype

Brick¹,

Hand

Frankel

et al. 2012

Pediatric Dermatology

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A defect in type VII collagen causes dystrophic epidermolysis bullosa (DEB). The pruriginosa variant (DEB-Pr) is unique because its initial presentation may be delayed until adolescence or adulthood, and its predominant feature is scarring and pruritus without the characteristic skin fragility of DEB. We describe three families with multiple affected members in which DEB-Pr shows an autosomal-dominant inheritance pattern. All affected individuals were examined, and three previously unreported COL7A1 mutations were identified.Dystrophic epidermolysis bullosa pruriginosa (DEBPr) is a rare and distinct subset of DEB first described in 1994 characterized by extreme pruritus and lichenoid or prurigo-like nodules that heal with violaceous scars and milia (1). At least 32 specific mutations within the collagen VII (COL7A1) gene have been identified in DEB-Pr (2-6), some overlapping with known mutations causing classic DEB (7). Patients have considerable phenotypic variation, even among those with the same genetic defect (4). We describe three families with DEB-Pr of varying clinical phenotypes resulting from three previously unreported mutations of COL7A1. CASE FAMILY 1The proband is a 30-year-old woman who presented with skin-colored to violaceous papules on her arms and legs, beginning at 11 years of age. New pruritic lesions continued to develop and spread to the trunk, sparing the face, leading to excoriations that healed with extensive scars. She denied skin fragility or intolerance to adhesive tape. Multiple topical corticosteroids, topical tacrolimus, moisturizers, and antihistamines all had minimal benefit. Her medical history was significant for mild anemia thought to be due to menorrhagia and mitral valve replacement for a history of rheumatic fever.On examination were Koebnerized, linear, hypertrophic, violaceous scars and plaques on the torso (Fig. 1A) and anterior tibiae (Fig. 1B). Small, discrete papules were scattered on the arms and abdomen. Mucous membranes, hair, nails, and teeth were normal. The pruritus partially responded to wet dressings with triamcinolone but markedly improved with low-dose broadband ultraviolet B phototherapy.This patient was one of four children born to nonconsanguineous Indian parents. Her monozygotic twin

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“…EBP is a rare clinical subtype of DEB, usually inherited in an autosomal dominant fashion, but occasionally also autossomal recessive inheritance pattern. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding type VII collagen, thus resulting in blister formation beneath the lamina densa of the epidermal basement membrane [7,8]. Although initial manifestations may be seen soon after birth, the disease onset commonly occurs in adolescence or adulthood.…”

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confidence: 99%

Underrecognition of epidermolysis bullosa pruriginosa

Coronado

Samorano

Dacache

et al. 2015

J Deutsche Derma Gesell

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Dear Editors, Epidermolysis bullosa pruriginosa (EBP) ([OMIM] 604129)is an uncommon clinical variant of dystrophic epidermolysis bullosa (DEB), described by McGrath in 1994 [1]. It is clinically characterized by intense pruritus, associated with pretibial lichenified or prurigo nodularis-like lesions, violaceous linear scarring, occasional trauma-induced blistering, excoriations, milia, nail dystrophy, and -in some casesalbopapuloid lesions on the trunk [1, 2]. Epidermolysis bullosa pruriginosa frequently poses a differential diagnostic challenge [3], and it may be clinically confused with other disorders [4,5]. We present eight cases of EBP and highlight the lag time between onset of symptoms and establishment of the correct diagnosis. Our report is aimed at aiding physicians in considering the possibility of this diagnosis when facing with its clinical manifestations, thus trying to avoid a delay in diagnosis.The charts of eight patients with EBP, followed at the Pediatric Dermatology Clinic of the Hospital das Clínicas of the University of São Paulo Medical School, were retrospectively reviewed. Clinical findings along with histopathology of routine hematoxylin-eosin stained sections and/or immunologic mapping (IM) confirmed the diagnosis in all patients. The latter was used to determine the level of cleavage [6]. Of these eight EBP patients, four were women and four were men, with ages ranging from 12 to 70 years. Two patients Conflict of interestNone.

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Epidermolysis Bullosa Pruriginosa Masquerading as Psychogenic Pruritus

Cited by 27 publications

References 28 publications

Epidermolysis bullosa pruriginosa: A case with a novel mutation and co-existent lichen amyloidosus

Epidermolysis bullosa pruriginosa: A case with a novel mutation and co-existent lichen amyloidosus

Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype

Underrecognition of epidermolysis bullosa pruriginosa

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