Changing clinical and laboratory concepts in inherited epidermolysis bullosa

Fine, Jo‐David

doi:10.1001/archderm.124.4.523

Cited by 7 publications

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The latter is consistent with the recent report of histochemical findings suggestive of abnormal epidermal glycosylation in both of these EBS subsets, even in skin sites not usually clinically involved in the Weber-Cockayne variant (10). In general, milia, atrophic scarring, nail dystrophy, and oral cavity involvement are not considered part of either disease, although the experience of the NEBR suggests that any or all of the latter may occur in rare individuals with any of the forms of EBS, thereby making accurate diagnosis more difficult on the basis of clinical findings alone (9,11).…”

Section: Commentmentioning

confidence: 99%

Epidermolysis Bullosa Simplex: Identification of a Kindred with Autosomal Recessive Transmission of the Weher‐Cockayne Variety

Fine¹,

Johnson²,

Wright

et al. 1989

Pediatric Dermatology

View full text Add to dashboard Cite

With few exceptions, epidermolysis bullosa simplex (EBS) is transmitted as an autosomal dominant trait. All cases of autosomal recessive EBS reported to date have been associated with significant extracutaneous disease (including anemia, marked growth retardation, dentition abnormalities, and/or concurrent neuromuscular disease), early infant mortality, or often, rather extensive cutaneous involvement. In some, the cutaneous morphology has even suggested junctional or dystrophic disease. We cared for a kindred in which four individuals were affected with an autosomal recessive form of EBS with cutaneous findings most often suggestive of Weber-Cockayne disease. Except for scattered oral erosions in one patient, there was no evidence of associated extracutaneous disease. These findings demonstrate the increasing complexity of even the simplex forms of inherited epidermolysis bullosa. This obviously has implications for genetic counseling.

show abstract

Section: Commentmentioning

confidence: 99%

Epidermolysis Bullosa Simplex: Identification of a Kindred with Autosomal Recessive Transmission of the Weher‐Cockayne Variety

Fine¹,

Johnson²,

Wright

et al. 1989

Pediatric Dermatology

View full text Add to dashboard Cite

show abstract

“…A neuromuscular disease with 'dystrophic' changes in muscle biopsy has been described associated with epider molysis bullosa simplex [6][7][8] and with epidermolysis bul losa hereditaria dystrophica [9], suggesting the existence of a new syndrome with skin and muscular manifesta tions. We report the first observation of a severe muscle disorder in a patient with junctional epidermolysis bullo-sa, confirming the close relationship between epidermoly sis bullosa and muscle involvement.…”

Section: Introductionmentioning

confidence: 99%

Congenital Muscular Dystrophy Associated with Familial Junctional Epidermolysis Bullosa Letalis

Doriguzzi¹,

Palmucci²,

Mongini³

et al. 1993

Eur Neurol

View full text Add to dashboard Cite

A 20-year-old patient was born with epidermolysis bullosa and a severe, slowly progressive muscle disease. Skin biopsy demonstrated junctional epidermolysis bullosa. Muscle biopsy demonstrated degenerative changes with increase in connective tissue, fibre size variability, rods and cytoplasmic bodies, central nuclei. In muscle biopsy dystrophin, chondroitin unsulphate, chondroitin 4-sulphate, chondroitin 6-sulphate, heparan sulphate, collagen III, collagen IV and VI, laminin, and fibronectin were normally distributed. This is the first report of the association of a form of congenital muscular dystrophy with junctional epidermolysis bullosa and, together with the previous reports of muscle involvement in epidermolysis bullosa simplex and dystrophica, it suggests the existence of a syndrome characterized by the contemporaneous presence of skin and muscle involvement.

show abstract

Dominant Dystrophic Epidermolysis Bullosa: A Clinical Overview

Lin¹,

Carter²

1992

Epidermolysis Bullosa

View full text Add to dashboard Cite

Changing clinical and laboratory concepts in inherited epidermolysis bullosa

Cited by 7 publications

References 0 publications

Epidermolysis Bullosa Simplex: Identification of a Kindred with Autosomal Recessive Transmission of the Weher‐Cockayne Variety

Epidermolysis Bullosa Simplex: Identification of a Kindred with Autosomal Recessive Transmission of the Weher‐Cockayne Variety

Congenital Muscular Dystrophy Associated with Familial Junctional Epidermolysis Bullosa Letalis

Dominant Dystrophic Epidermolysis Bullosa: A Clinical Overview

Contact Info

Product

Resources

About