Pretibial epidermolysis bullosa: Report of a case

Lichtenwald, Duane J.; Hanna, Wedad; Sauder, Daniel N.; Jakubovic, Henry R.; Rosenthal, Donald

doi:10.1016/0190-9622(90)70045-j

Cited by 16 publications

(11 citation statements)

References 9 publications

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“…Pretibial DDEB , as the name implies, almost exclusively involves the anterior lower legs [52,53]. Individual lesions, which tend to be papular or plaque-like, are oftentimes somewhat violaceous, suggesting the clinical diagnosis of lichen planus.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Inherited epidermolysis bullosa

Fine

2010

Orphanet J Rare Dis

225

193

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Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.

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Section: Clinical Descriptionmentioning

confidence: 99%

Inherited epidermolysis bullosa

Fine

2010

Orphanet J Rare Dis

225

193

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“…Immunofluorescence mapping studies performed with polyclonal antibodies to bullous pemphigoid antigen, laminin, and type IV collagen have been performed by different authors in patients with DEB. 8 , 9 These studies confirmed that the level of blister cleavage in DEB is beneath the lamina densa, because these antigens are present on the roof of the blister. Immunohistochemical study of type IV collagen is also currently available with monoclonal antibodies applied in formalin‐fixed, paraffin‐embedded tissue, and it can be used as an auxiliary technique in the histopathologic evaluation of subepidermal blistering diseases, because collagen type IV is the main component of the lamina densa.…”

Section: Discussionmentioning

confidence: 72%

“…Our review of the literature revealed very few reports of the pure form of PEB. 5–9 There are reports of some families with mixed forms of PEB, however, where the pretibial lesions are associated with features of Pasini or Cockayne–Touraine types of epidermolysis bullosa. 5 , 10 , 11…”

Section: Discussionmentioning

confidence: 99%

Pretibial epidermolysis bullosa

et al. 1999

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A 37‐year‐old white man with a history of essential arterial hypertension and idiopathic thrombocytopenic purpura (for the latter disorder, oral corticosteroids had been administered successfully), was first examined in our department in June 1997. He had a persistent, pruriginous eruption on the pretibial regions which had been present since the age of 16 years. He complained of bullous lesions after minor trauma to the skin. Examination revealed bilateral, brown, erythematous, shiny, indurated plaques on the anterior regions of his lower legs. Several clear blisters, scars, and excoriations were also present on the left leg ( ). His toenails were thickened and dystrophic, but his teeth and hair were normal. 1 Vesicles, erosions, and crusts on the left leg Histopathologic examination of a vesicle on the left leg revealed a subepidermal blister with sparse perivascular lymphocytic infiltrate in the upper dermis. The contents of the blister were fibrinous ( ). Immunohistochemical study was automatically performed (TechMate 500) with monoclonal antibody to type IV collagen (clone CIU 22, Dako), a component of lamina densa, after enzymatic and heat antigen retrieval. Type IV collagen was present on the roof of the blister, indicating that the blister formation was beneath the lamina densa ( ). Ultrastructural examination showed an intact dermoepidermal junction with normal hemidesmosomes and basal keratinocytes; however, the anchoring fibrils were markedly decreased in number ( ) and were rudimentary. 2 (A) A subepidermal blister covered by intact epidermis and sparse inflammatory infiltrate in the papillary dermis (hematoxylin and eosin, ×100). (B) Immunohistochemical investigation for collagen IV demonstrated that the blister developed beneath the lamina densa (collagen IV, ×200) 3 Ultrastructural examination showed a decreased number of anchoring fibrils in the dermal papillae (×12,000) The father of the patient and the paternal grandfather had a similar blistering eruption on the pretibial areas. His son, a 2‐year‐old boy, also presented bullous lesions on the anterior surface of the legs, with scars and milia. His daughter, a 6‐year‐old girl, was not affected. The pattern of inheritance was autosomal dominant.

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“…The inheritance pattern is autosomal dominant, except for a few sporadic cases reported in the literature 1,5 . In contrast with other forms of hereditary epidermolysis bullosa, which are present at birth, the onset of PEB is delayed and usually appears between 3 and 24 years of age 5,6 …”

Section: Discussionmentioning

confidence: 99%

“…1,5 In contrast with other forms of hereditary epidermolysis bullosa, which are present at birth, the onset of PEB is delayed and usually appears between 3 and 24 years of age. 5,6 The diagnosis of PEB may be suggested by the clinical features; however, the diagnosis must be confirmed by an ultrastructural study demonstrating a reduced density of AFs. 3,7 In PEB, and in all other types of DEB, the clinical and ultrastructural features are accounted for by quantitatively reduced or morphologically abnormal AFs, as found in the case presented herein.…”

Section: Discussionmentioning

confidence: 99%

Pretibial epidermolysis bullosa: is this case a new subtype with loss of types IV and VII collagen?

et al. 2009

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Pretibial epidermolysis bullosa (PEB) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB), in which recurrent blistering with scarring predominantly involves the pretibial skin. Nail dystrophy, albopapuloid lesions, and hypertrophic scars may also occur. In PEB, immunohistochemical and electron microscopic studies demonstrate the complete or partial loss of the anchoring fibril (AF) in the basement membrane zone, suggesting disturbed synthesis or excessive degradation of collagen VII, the main component of AF. Interestingly, we report a case of PEB with unusual results of joint loss of types IV and VII collagen.

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Pretibial epidermolysis bullosa: Report of a case

Cited by 16 publications

References 9 publications

Inherited epidermolysis bullosa

Inherited epidermolysis bullosa

Pretibial epidermolysis bullosa

Pretibial epidermolysis bullosa: is this case a new subtype with loss of types IV and VII collagen?

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