epidermolysis bullosa/asthenia

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Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.

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Prijava / prijava

BACKGROUND Epidermolysis bullosa simplex associated with muscular dystrophy (EBS-MD; OMIM# 226670) is an autosomal recessive disorder caused by genetic defects in the plectin gene. Because EBS-MD is relatively rare, and gene defects have been elucidated only in a limited number of patients, the

Steroid-induced Diabetes Complicating Treatment of Epidermolysis Bullosa Acquisita: A Preventable Treatment Complication Stresses the Importance of Primary Care Follow-up.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Epidermolysis bullosa acquisita is a rare autoimmune bullous disease involving the skin and mucosa, most commonly treated with systemic corticosteroids. This case illustrates the importance of counseling patients on medication side effects and ensuring close physician follow-up during an extended

Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study.

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Prijava / prijava

A skin biopsy specimen was obtained from a 1-month-old female with epidermolysis bullosa simplex (Koebner). Histologically, an intraepidermal separation was seen and considered to be formed by cytolysis of the epidermal basal cells. Ultrastructurally, the basal cells were lacking in cytoplasmic

[Pretibial epidermolysis bullosa and hypothyroidism].

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Prijava / prijava

BACKGROUND We report a case of primary non-autoimmune hypothyroidism causing pretibial epidermolysis bullosa. METHODS A 70-year-old man with primary non-autoimmune hypothyroidism developed blisters of different ages on the lateral aspect of both legs. Pathology reported blisters with subepidermal

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.

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Prijava / prijava

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.

Subcutaneous spreading squamous cell carcinoma in a patient with epidermolysis bullosa.

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Prijava / prijava

Epidermolysis Bullosa (EB) is a complex group of genetic disorders characterised by mechanical fragility in the basement membrane zone. Affected individuals experience significant morbidity and mortality, most commonly from cutaneous malignancies. In fact, 90.1% of EB patients develop Squamous Cell

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

We report a novel case of epidermolysis bullosa simplex with severe mucous membrane involvement and mutations in the plectin gene (PLEC1). The patient suffered from extensive blistering of the skin and oral and laryngeal mucous membranes. Electron microscopy of a lesional skin biopsy showed cleft

Ultrastructural findings in epidermolysis bullosa.

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Prijava / prijava

METHODS Electron microscopy of skin provides diagnostic criteria for distinguishing the simplex, junctional, and dystrophic forms of inherited epidermolysis bullosa (EB). The plane of cleavage in blister formation indicates the localization of structural weakness within the epidermis and basement

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Epidermolysis bullosa (EB) with late-onset muscular dystrophy (EB-MD) is a hemidesmosomal variant of EB due to mutations in the plectin gene (PLEC1). The age of onset of muscle involvement has been noted to vary from infancy to the fourth decade of life. Immunofluorescence of the patients' skin and

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387) causes epidermolysis bullosa* simplex with muscular dystrophy and diffuse alopecia: a case report.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282),

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Epidermolysis bullosa associated with muscular dystrophy is a rare, autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene, PLEC1. We describe a phenotypically mild case due to compound heterozygous mutations in PLEC1 (2677_2685del and the novel mutation

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.

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Prijava / prijava

Plectin mutations have been reported in epidermolysis bullosa simplex with muscular dystrophy. We report the first case of left ventricular non-compaction in an 18-year-old male with epidermolysis bullosa simplex with muscular dystrophy. The patient was diagnosed with epidermolysis bullosa simplex

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Plectin, an intermediate filament linking protein, is normally associated with the sarcolemma, nuclear membrane, and intermyofibrillar network in muscle, and with hemisdesmosomes in skin. A 20-year-old female with epidermolysis bullosa simplex since birth had progressive ocular, facial, limb, and

Equine diseases caused by known genetic mutations.

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Prijava / prijava

The recent development of equine genome maps by the equine genome community and the complete sequencing of the horse genome performed at the Broad Institute have accelerated the pace of genetic discovery. This review focuses on genetic diseases in the horse for which a mutation is currently known,

Autoimmune and inherited subepidermal blistering diseases: advances in the clinic and the laboratory.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Anchoring complexes are specialized focal attachment sites within the cutaneous basement membrane zone (BMZ) and play a crucial role in dermo-epidermal adhesion. Structural weakness that may be caused by the binding of autoantibodies to components of the anchoring complex or by aberrant expression

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epidermolysis bullosa/asthenia

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.

Steroid-induced Diabetes Complicating Treatment of Epidermolysis Bullosa Acquisita: A Preventable Treatment Complication Stresses the Importance of Primary Care Follow-up.

Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study.

[Pretibial epidermolysis bullosa and hypothyroidism].

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.

Subcutaneous spreading squamous cell carcinoma in a patient with epidermolysis bullosa.

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.

Ultrastructural findings in epidermolysis bullosa.

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.

Equine diseases caused by known genetic mutations.

Autoimmune and inherited subepidermal blistering diseases: advances in the clinic and the laboratory.

Najbolj popolna baza zdravilnih zelišč, podprta z znanostjo

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387) causes epidermolysis bullosa* simplex with muscular dystrophy and diffuse alopecia: a case report.