Pretibial Dystrophic Epidermolysis Bullosa Research Articles

New Onset Mitral Regurgitation Caused by Mitral Valve Prolapse in a Male Patient with Dominant Pretibial Dystrophic Epidermolysis Bullosa.

New Onset Mitral Regurgitation Caused by Mitral Valve Prolapse in a Male Patient with Dominant Pretibial Dystrophic Epidermolysis Bullosa.

Pretibial dystrophic epidermolysis bullosa pruriginosa: A rare case report in a child with low intelligent quotient

Dystrophic epidermolysis bullosa (DEB), a rare form of EB, is characterized by defects in Type VII collagen which is encoded by COL7A1 gene located on chromosome 3p21. A 12-year-old female with low intelligent quotient presented with intensely pruritic multiple violaceous papules which were coalescent at areas on both the shins. Histopathological examination showed epidermis displaying focal thinning. A subepidermal cleft was seen beneath the basement membrane zone. The dermis showed a linear array of keratinous cysts with intervening diffuse lymphohistiocytic infiltrate. Features were suggestive of pretibial DEB. Since it was associated with intense itching, the lesion was termed as pretibial DEB pruriginosa which has combined elements of exclusive pretibial lesions and intense itching. An appropriate clinical history and increased awareness of histopathological features will enable earlier diagnosis and suitable management.

An unusual clinical presentation of pemphigus herpetiformis with marked response to dapsone

To the Editor: A 39-year-old African American woman presented to our dermatology clinic with a pruritic blistering eruption of 2 years' duration. The eruption started on the face and subsequently generalized to the trunk and extremities. The physical examination revealed scattered excoriated hyperpigmented patches and thin plaques over her face, trunk, and arms. The most prominent lesions were over bilateral pretibial surfaces, showing well-demarcated, hyperpigmented thin plaques intermixed with intact blisters and superficial erosions, reminiscent of a minimally scarring stage of pretibial dystrophic epidermolysis bullosa (Fig 1, A).

Pretibial dystrophic epidermolysis bullosa with localized cutaneous amyloidosis: Coincidental or secondary amyloidosis?

Here, we describe the case of a patient with pretibial dystrophic epidermolysis bullosa (PDEB) with amyloid deposition. The patient was a 40-year-old Japanese woman who presented a blistering eruption in the pretibial area with flat violaceous-brown lichenoid papules. The histology of the blister revealed a subepidermal bulla with antibodies bound to basement membrane antigens on the blister roof by immunoflourescent mapping. Electron microscopy revealed a blister cleavage plane below the lamina densa. The histology of the lichenoid papules showed amyloid deposition in the papillary dermis. Because it was confined to just beneath the bulla base of the blister specimen, the amyloid deposition may have been derived from degenerated keratinocytes induced by damage to the epidermal-dermal junction due to blister formation in PDEB in this case. PDEB, in general, is often misdiagnosed as lichen amyloidosis; however, some PDEB cases could actually be associated with amyloid deposition.

A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen

Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterized by trauma-induced mucocutaneous blisters and erosions that heal with scarring. DEB results from mutations in the COL7A1 gene, encoding type VII collagen, which is the major component of anchoring fibrils at the dermal–epidermal junction. Over 300 pathogenic mutations have been described within COL7A1 in DEB throughout the world. Several Japanese research groups also have performed genetic testing in this genodermatosis to establish genotype–phenotype correlation more precisely [1,2].

Glycine-to-valine Missense Mutation in the Collagen VII Gene of a Patient with Pretibial Dystrophic Epidermolysis Bullosa

Glycine-to-valine Missense Mutation in the Collagen VII Gene of a Patient with Pretibial Dystrophic Epidermolysis Bullosa

Linkage of pretibial dystrophic epidermolysis bullosa to COL7A1: Expansion of the phenotypic spectrum of collagen type VII defects

Linkage of pretibial dystrophic epidermolysis bullosa to COL7A1: Expansion of the phenotypic spectrum of collagen type VII defects

A Case of Pretibial Dystrophic Epidermolysis Bullosa: Decreased Expression of the Non‐helical Domain of Type VII Collagen Molecule

A 27-year-old man with an ataxic gait due to infantile cerebral paralysis exhibited recurrent blistering caused by mechanical stimuli on the pretibial area of both legs from the age of 20. His parents were not consanguineous, and he had no relatives who suffered from blistering. The histology showed a subepidermal bulla due to dermolytic epidermal-dermal separation. The anchoring fibrils were sparse and rudimentary in the predilection area. An LH 7:2 monoclonal antibody against the non-helical domain of the type VII collagen molecule stained the basement membrane zone of the patient's skin at a weaker intensity than the staining of normal human skin, but at a distinctively stronger intensity than the staining of skin from a patient with recessive dystrophic epidermolysis bullosa. Immunoelectron microscopy revealed that LH 7:2-immunoreactants were distributed irregularly within the lamina densa and sparsely in the sublamina densa region. The patient was diagnosed with pretibial dystrophic epidermolysis bullosa.