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Query: UMLS:C0033774 (pruritus)
 14,546 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epidermolysis bullosa pruriginosa is a recently recognized variant of dystrophic epidermolysis bullosa (DEB) characterized by severe pruritus and scarring, mainly involving the extensors of the extremities. In this study, we searched for mutations in the type VII collagen gene (COL7A1) using polymerase chain reaction amplification of exonic segments of COL7A1, followed by heteroduplex analysis, in a Chinese pedigree with dominant DEB displaying a striking anastomosing network of lichenoid papules and scarring. The study revealed a G-to-A transition at nucleotide 6724 within exon 85 of COL7A1, converting a glycine to an arginine (G2242R) within the triple-helical domain of the type VII collagen in affected individuals. These findings demonstrate that EB pruriginosa in this family is a clinical variant of dominant DEB.
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PMID:A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. 918 28

Epidermolysis bullosa pruriginosa, a genetic mechanobullous disease, is characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions, appearing at birth or later. Scarring and prurigo are most prominent on the shins. Treatment is unsatisfactory. We report three such cases: two of them first cousins, are described with history of blisters since childhood, followed by intensely pruritic lesions predominantly on the shins, and dystrophy of toenails, but no albopapuloid lesions or milia. Intact blisters were present in one case, and excoriations were seen in the other two. All of them showed encouraging response to cryotherapy.
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PMID:Epidermolysis bullosa pruriginosa--report of three cases. 1639 85

Epidermolysis bullosa pruriginosa (EBP) is a clinical variant of dominant or occasionally recessive, dystrophic epidermolysis bullosa (EB). Clinically, intense pruritus on a background of inherited skin fragility often leads to skin signs that resemble acquired inflammatory disorders such as hypertrophic lichen planus (LP) or nodular prurigo. Moreover, symptoms and signs may not appear until adult life, further compounding difficulties in distinguishing between inherited or acquired skin pathology. We describe a 61-year-old white British woman who developed EBP during her 40s, with lichenified plaques on the legs that resembled hypertrophic LP. Molecular screening of the COL7A1 gene showed a novel heterozygous glycine substitution in type VII collagen, designated p.G2290A, in keeping with dominant dystrophic EB. During her 50s, however, the patient developed new abnormalities with patchy scarring alopecia and perifollicular inflammation. Histological examination of a skin biopsy found features of lichen planopilaris. To our knowledge, this is the first example of a patient with EBP in whom the genetic disease does not merely resemble LP but is actually associated with coexisting acquired lichenoid skin pathology. Intriguingly, treatment with topical tacrolimus 0.03% led to marked improvement in the inflammation on the legs but had little effect on the scalp.
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PMID:Epidermolysis bullosa pruriginosa in association with lichen planopilaris. 2005 45

Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities. Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal-epidermal junction, can cause both DEB and EBP with either autosomal dominant or recessive inheritance. We present one family with both dystrophic and pruriginosa phenotypes of epidermolysis bullosa. The proband is a 19-year-old Caucasian woman who initially presented in childhood with lichenoid papules affecting her extensor limbs and intense pruritus consistent with EBP. Her maternal grandmother saw a dermatologist for similar skin lesions that developed without any known triggers at age 47 and mostly resolved spontaneously after approximately 10 years. The proband's younger brother developed a small crop of pruritic papules on his elbows, dorsal hands, knees, and ankles at age 13. Her second cousin once removed, however, reported a mild blistering disease without pruritus consistent with DEB. Genetic sequencing of the kindred revealed a single dominant novel intron 47 splice site donor G>A mutation, c.4668 + 1 G>A, which we predict leads to exon skipping. Incomplete penetrance is confirmed in her clinically unaffected mother, who carries the same dominant mutation. The wide diversity of clinical phenotypes with one underlying genotype demonstrates that COL7A1 mutations are incompletely penetrant and strongly suggests that other genetic and environmental factors influence clinical presentation.
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PMID:An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. 2251 71

Epidermolysis bullosa pruriginosa (EBP) is a subtype of dominant dystrophic epidermolysis bullosa (DDEB) and is clinically characterized by pruritic lichenified plaques or prurigo-like lesions with violaceous linear scarring. Pruritus has always been described as one of the most striking features in EBP. Mutations in COL7A gene, especially in the glycine residue, have been shown to cause this form of DDEB. In this report, we describe a north Indian familial clustering of three cases of EBP, spread across two generations, presenting with hypertrophic lichenoid cutaneous lesions, which were completely asymptomatic. Clinical and histopathological analysis favored the diagnosis of EBP in all three cases. They are being reported for their unusual asymptomatic presentation.
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PMID:Epidermolysis bullosa pruriginosa: a rare presentation with asymptomatic lesions. 2344 65

Epidermolysis bullosa pruriginosa is a rare distinctive variant of dystrophic epidermolysis bullosa characterized by intense pruritus, lichenified plaques in linear distribution, and anonychia. It is a difficult condition to treat and causes a great deal of distress. The present authors report two cases showing good response to low-dose thalidomide, with clinical and symptomatic improvement. The exact mechanism of action is not yet clear.
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PMID:Epidermolysis bullosa pruriginosa showing good response to low-dose thalidomide - a report of two cases. 2450 15

Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. The broad phenotypic variability seen in EBP suggests that further genotypic and environmental factors may influence presentation. Genetic and histopathological diagnosis is essential, given the considerable overlap with clinically similar presentations such as hypertrophic lichen planus.
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PMID:Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa. 2950 92

Epidermolysis bullosa pruriginosa is an unusual clinical variant of dystrophic epidermolysis bullosa characterized by sublamina densa blistering and intense pruritus leading to hypertrophic lichenoid nodules, plaques, milia, and variable presence of albopapuloid lesions. Most cases are sporadic but a few cases have autosomal dominant or recessive inheritance. Treatment has been quite disappointing and failed to produce satisfactory or sustained results. We report a case of 39-years-old male with epidermolysis bullosa pruriginosa and its response to thalidomide.
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PMID:Epidermolysis bullosa pruriginosa: A rare entity which responded well to thalidomide. 3135 15

Epidermolysis bullosa pruriginosa, a genetic mechanobullous disease, manifests at birth or late in life and is characterised by intense pruritus, resulting in lichenified or nodular prurigo-like lesions and scarring most prominent on the shins. Treatment is unsatisfactory. We report a patient treated with success using a combination of topical and systemic agents.
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PMID:Epidermolysis Bullosa Pruriginosa successfully treated with concomitant topical and systemic agents. 3252 88