Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033774 (pruritus)
 14,546 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a Japanese infant who had a novel de novo splice-site mutation in the COL7A1 gene, which resulted in in-frame exon 87 skipping. Very interestingly, most of the previously reported cases with the same exon skipping presented as dystrophic epidermolysis bullosa (DEB) pruriginosa. The proband in this study showed an extremely mild clinical phenotype, with no nail dystrophy, pruritus or prurigo-like lesions. However, dominant (DDEB) pruriginosa often shows a typical mild DEB phenotype until the onset of pruritus, making it likely that as she gets older the proband will present with features consistent with DDEB pruriginosa. By knowing in advance the anticipated clinical course, it might be possible to reduce or even prevent development of nodular prurigo-like lesions by sufficient control of pruritus. Our study should contribute to further refinement of the genotype-phenotype correlations in DEB, emphasizing the significance of mutation analysis for correct diagnosis and possibly for prediction of prognosis.
 ...
PMID:A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa. 1948 58

We report a case of an inflammatory variant of epidermolysis bullosa acquisita in a 53-year-old male, with itching blistering eruption on the trunk, armpits and limbs for six months. The skin biopsy specimen showed subepidermal blister with neutrophils. Direct immunofluorescence revealed linear depositions of IgG, IgA, IgM and C3 at the basement membrane; indirect immunofluorescence and salt Split Skin were negative. Antinuclear antibodies were also negative. Improvement of the blisters followed treatment with systemic corticotherapy and some lesions healed with milia. This is a rare presentation of epidermolysis bullosa acquisita, with inflammatory lesions at first.
 ...
PMID:Inflammatory epidermolysis bullosa acquisita: case report. 1950 87

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.
 ...
PMID:Epidermolysis bullosa pruriginosa in association with lichen planopilaris. 2005 45

Skin and wound care in epidermolysis bullosa (EB) is specific both to the type of EB and to individual wounds within each child. Availability of dressings and personal preference are also paramount in the selection of materials. The ideal dressing is yet to be developed, although there are now a variety of suitable dressings available. This article discusses current techniques of wound and dressing management for EB simplex, junctional EB, and dystrophic EB. Factors adversely affecting healing include anemia, malnutrition, infection, and pruritus.
 ...
PMID:Wound management for children with epidermolysis bullosa. 2044 88

Autoimmune bullous skin diseases are characterized by autoantibodies against adhesion molecules of the skin. Pemphigus is a disorder with an intraepidermal loss of adhesion and is characterized by fragile blisters and erosions. Pemphigus vulgaris often shows extensive lesions of the oral mucosa, while pemphigus foliaceus is commonly restricted to cutaneous involvement with puff pastry-like scale formation. Paraneoplastic pemphigus is obligatorily associated with malignancies and often presents as hemorrhagic stomatitis with multiforme-like exanthems. IgA pemphigus typically presents with pustules and annular plaques but not with mucosal involvement. The clinical spectrum of the pemphigoids includes tense blisters, urticarial plaques, and prurigo- like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a "cluster of jewels"-like pattern in childhood and is more heterogeneous in adulthood. Classical epidermolysis bullosa acquisita shows extensive skin fragility. Dermatitis herpetiformis is associated with gluten-sensitive enteropathy and manifests clinically with severe itching and papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The intention of the review is to demonstrate the heterogeneous clinical spectrum of autoimmune bullous disorders.
 ...
PMID:Autoimmune bullous skin diseases. Part 1: Clinical manifestations. 2195 78

A case is presented of a patient who was referred to the rheumatology department with symptoms of systemic lupus erythematosus and bullous disease. A 55-year-old woman with 2 year history of blistering involving the hands and face, presented with new lesions on the thorax, feet, toes, inferior lip, and tongue accompanied by pruritus. The patient also had joint pain without inflammation of the knees, ankles, and hands. After the investigations the patient was diagnosed with a blistering disorder, specifically epidermolysis bullosa acquisita. The patient completely recovered following treatment with topical and oral corticosteroids, and colchicine.
 ...
PMID:A patient with multiple blisters in the skin and mucous membranes. 2224 49

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.
 ...
PMID:An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. 2251 71

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.
 ...
PMID:Epidermolysis bullosa pruriginosa: further clarification of the phenotype. 2310 73

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.
 ...
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.
...
PMID:Epidermolysis bullosa pruriginosa showing good response to low-dose thalidomide - a report of two cases. 2450 15


<< Previous 1 2 3 4 5 6 Next >>