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

Dystrophic epidermolysis bullosa pruriginosa, a subtype of epidermolysis bullosa dystrophica and a heterogeneous inherited disease, is characterized by pruritus, excoriated nodular prurigo-like lesions, skin fragility, altered anchoring fibrils and loss of dermal-epidermal adhesion. Mutation in type VII collagen gene (COL7A1) is thought to be implicated in the underlying change for dystrophic epidermolysis bullosa pruriginosa. We report here a large family of dominant dystrophic epidermolysis bullosa pruriginosa. Mutation analysis using polymerase chain reaction and direct sequencing demonstrated a novel nucleotide substitution of 6899A-->G in exon 87 in one COL7A1 allele of the proband and 18 affected family members. This substitution was not found in 100 normal alleles. Polymerase chain reaction and sequencing of the cDNA, reverse transcribed from the proband's peripheral lymphocyte RNA, suggest that this mutation causes aberrant COL7A1 mRNA splicing of exon 87 skipping. Clinical features and pedigree analysis suggest that 6899A-->G substitution is a mutation with full penetrance and variable expressivity.
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PMID:A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. 1235 9

Epidermolysis bullosa (EB) pruriginosa is a subtype of dominant dystrophic EB (DDEB), characterized by severe pruritus and blistering localized to the extensor surface of the extremities. EB pruriginosa exhibits extensive clinical heterogeneity with variable expression and delayed age of onset. Mutations in the COL7A1 gene, especially in glycine residues within Gly-X-Y repeats, have been shown to cause this form of DDEB. Here, we report a novel COL7A1 mutation in a Taiwanese pedigree with EB pruriginosa. Using PCR and direct sequence analysis we have identified a G-->T transversion at nucleotide 7097 in exon 92 of COL7A1, converting a glycine residue to valine (G2366V). The mutation resides within a consecutive, uninterrupted stretch of 17 Gly-X-Y residues in the triple-helical domain of type VII collagen. Interestingly, an affected member of this family also displayed elevated IgE levels, previously reported in some patients with this disorder. Our finding further implicates COL7A1 mutation in the pathogenesis of EB pruriginosa and underscores the heterogeneous clinical symptoms of glycine mutations in DDEB.
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PMID:A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. 1511 17

A 14 year-old female born from consanguineous healthy parents was admitted to our institute for the presence of a generalized bullous eruption started at birth. The bullae were asymmetrically distributed all over the cutaneous surface and, over time, evolved into erosions that resolved with scarring areas. On the basis of the clinical picture and the ultrastructural and antigenic studies, a diagnosis of recessive dystrophic epidermolysis bullosa was made. In the following months, the patient began to complain a severe pruritus and the bullae and erosions were accompanied with diffuse erythematous patches and plaques covered by thick scale-crusts situated mostly on the arms. Microscopic examination of the scales revealed the presence of many mites and ova. Since the conventional topical therapies for scabies were uneffective, the patient was treated with a single dose (200 mcg/hg) of ivermectin. Although there was an initial improvement, scabies recurred within 2 months from discontinuation of the therapy. Finally, a further single administration of ivermectin at the same dosage led to the complete and permanent resolution of scabies. The association of recessive dystrophic epidermolysis bullosa and norwegian scabies has been already reported in literature. The case presented suggests that ivermectin represents an effective drug for severe forms of scabies occurring in patients affected by other dermatoses that prevent the use of topical treatments.
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PMID:[Successful treatment of Norwegian scabies with ivermectin in a patient with recessive dystrophic epidermolysis bullosa]. 1525 85

Dystrophic epidermolysis bullosa is a rare and clinically heterogeneous mechanobullous disorder. One unusual clinical variant is epidermolysis bullosa pruriginosa (EBP), in which the combination of pruritus and skin fragility can lead to hypertrophic, lichenified nodules and plaques. This form of inherited epidermolysis bullosa may not develop clinically until adult life, leading to diagnostic confusion with acquired disorders, such as nodular prurigo, lichen simplex, lichen planus, hypertrophic scarring, or dermatitis artefacta. As in all other forms of dystrophic epidermolysis bullosa, the molecular pathology involves mutations in the gene encoding the anchoring fibril protein, type VII collagen (COL7A1), but there is no clear genotype-phenotype correlation in EBP. In this report, we describe a Chinese-Singaporean family with EBP in whom an autosomal dominant glycine substitution mutation, p.G2251E, was identified in exon 86 of the COL7A1 gene. This heterozygous mutation was identified in the genomic DNA of all 4 affected adults tested, as well as 2 clinically unaffected offspring (aged 9-29 years). Based on DNA sequencing, we predict that these individuals may develop EBP later in life, although additional factors leading to disease expression may determine phenotypic expression. Nevertheless, we plan to closely monitor these potentially presymptomatic individuals for symptoms of pruritus and early signs of the genetic disorder.
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PMID:Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. 1743 45

Non-Herlitz junctional epidermolysis bullosa (JEB-nH), a nonlethal variant of junctional epidermolysis bullosa (JEB), is an autosomal recessive disorder characterized by separation of the dermal-epidermal junction. JEB-nH is caused by mutations in several genes and lack of the COL17A1 gene product may lead to skin fragility. A 41-year-old Japanese man with JEB-nH, featuring mutations in the gene encoding type XVII collagen, presented with great blisters over his entire body accompanied by severe itching and eosinophilia usually observed in bullous pemphigoid (BP). To our knowledge, our patient is the first with JEB-nH to be treated successfully with an oral steroid to control his skin affliction, symptoms and eosinophilia. This suggests that in the case of JEB-nH with eosinophilia caused by some secondary immune activation, oral steroids may constitute an alternate therapy to improve aggravated skin conditions and severe itching, both of which tend to show resistance to usual dermatological treatments.
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PMID:Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation. 1759 58

A 35 years female presented with extremely pruritic, violaceous, small vesiculopapular lesions over both shins since 11/12 years of age. The intensity of pruritus slightly descreased following oozing of fluid. History of similar incidence in her mother and maternal grandfather was present. There was no toe-nail dystrophy. Histopathology report showed the lesions had hyperkeratotic, mild acanthosis, dermal lymphohistiocytic infiltrate and subepidermal cleft. The case was diagnosed to be a case of epidermolysis bullosa pruriginosa.
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PMID:Epidermolysis bullosa pruriginosa: a rare autosomal dominant variant. 1817 92

The objective of this study was to identify and specify the problems of children with epidermolysis bullosa. The questions explored were: (i) What do children with epidermolysis bullosa experience as the most difficult problems; (ii) What is the impact of these problems on their daily life; and (iii) Do these experiences differ between mildly and severely affected children? Qualitative research methodology was used, comprising a series of semi-structured interviews with children with different (sub)types of epidermolysis bullosa. The interviews were analysed systematically with help of the qualitative software package Atlas-ti. Five main themes were found: (i) having an itchy skin, (ii) being in pain, (iii) having difficulties with participation, (iv) lack of understanding of others, and (v) the feeling of being different. Severely affected children suffered most from itch and treatment-related pain. Mildly affected children had more problems with activity-related pain. Mildly affected children also had more concerns about their appearance and the teasing and staring of others than did severely affected children. Both groups had difficulties with participation, the visibility of their disease and the feeling of being different.
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PMID:Main problems experienced by children with epidermolysis bullosa: a qualitative study with semi-structured interviews. 1831 42

A 47-year-old Vietnamese woman presented with dystrophic fingernails and toenails that had been present since infancy. She also had developed, in the third decade, pretibial pruritus with vesicle formation and progressive localized papules and scars. Multiple family members were similarly affected. Physical examination showed lichenoid papules that coalesced into large plaques that were studded with milia over the pretibial areas and 20 nail dystrophy. A biopsy specimen showed milia-like structures and dermal fibrosis. Pretibial epidermolysis bullosa is a rare variant of dystrophic epidermolysis bullosa that shows appreciable clinical overlap with dystrophic epidermolysis bullosa pruginosa. Both disease subsets are characterized by the late age of onset, nail dystrophy, and predominantly pretibial pruritic lichenoid skin lesion; they are associated with glycine substitution mutations in COL7A1.
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PMID:Pretibial epidermolysis bullosa. 1906 25

Epidermolysis bullosa (EB) pruriginosa is an unusual variant of dystrophic EB in which intense itching can lead to striking skin changes resembling acquired skin disorders such as nodular prurigo or hypertrophic lichen planus. The molecular pathology involves mutations in the COL7A1 gene, but the nature of the mutations is similar to those seen in other non-pruritic forms of dystrophic EB. The mechanism of the dramatic phenotypic differences is currently unknown. In this study we assessed the incidence of a common functional polymor-phism in the matrix metalloproteinase-1 gene promoter (1G or 2G at nucleotide -1607) in individuals with EB pruriginosa (n = 27) compared with non-itchy dominant dystrophic EB (n = 23), recessive dystrophic EB (n = 25) and normal controls (n = 50). The hypothesis is that the 2G allele, which was previously shown to increase matrix metalloproteinase-1 activity and lead to increased degradation of type VII collagen, could explain the phenotypic heterogeneity encountered in dominant forms of EB, particularly the itchy EB pruriginosa phenotype. The rationale is that increased type VII collagen degradation could trigger an inflammatory response leading to itchy skin characteristic of EB pruriginosa. All 27 individuals with EB pruriginosa were heterozygous for dominant-negative glycine substitution mutations in the COL7A1 gene, six of which have not been reported previously. The frequency of the 2G allele in these subjects (46.3%) was greater than in the controls (42.0%), but less than in non-itchy dominant dystrophic EB (52.2%) or recessive dystrophic EB (62.0%), indicating that variants of a common functional polymorphism in the matrix metalloproteinase-1 gene promoter do not account for the itchy skin phenotype. The pathophysiology of EB pruriginosa remains unexplained.
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PMID:New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. 1919 35

Epidermolysis bullosa (EB) pruriginosa, characterized by severe itching and the presence of nodular prurigo-like or lichenoid lesions, is a rare clinical type of dystrophic EB. Mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils, have been implicated in the pathogenesis of the disorder. In the present study, we screened a Chinese family with EB pruriginosa for COL7A1 mutations by PCR amplification of genomic sequences and direct nucleotide sequencing. The mutation consists of a G-->T substitution at nucleotide 6724 in exon 85, which leads to the substitution of glycine by tryptophan at codon 2242. This report adds new variants to the known COL7A1 mutations underlying EB pruriginosa, and provides the basis for genetic counselling and prenatal diagnosis for affected families.
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PMID:A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. 1948 43


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