Pretibial Epidermolysis Bullosa Research Articles

A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene.

A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene.

An update on the RAPH blood group system

This update of the RAPH blood group system (Hayes M. RAPH blood group system. Immunohematology 2014;30:6-10) reports no new alleles. The RAPH blood group system (International Society of Blood Transfusion system 25) consists of a single anti-gen (MER2) expressed on CD151, a member of the tetraspanin family of proteins. CD151 regulates interactions with laminin-binding integrins α3β1, α6β1, α6β4, and α7β1 and is expressed on red blood cells as well as many other tissues and cancer types. Lack of the RAPH protein is associated with nephropathy with pretibial epidermolysis bullosa and deafness.

A novel approach to pretibial epidermolysis bullosa: A case report and literature review

A novel approach to pretibial epidermolysis bullosa: A case report and literature review

Pretibial epidermolysis bullosa in a Kashmiri girl

Pretibial epidermolysis bullosa (EB) is a rare type of dystrophic EB characterized by itching, blisters, atrophy, and scarring localized to the shins. The term pretibial is used because of the localization of lesions to the shins. It has been rarely reported in the literature. There is no specific treatment for any form of EB, and the mainstay of clinical management is based on protection and avoidance of provoking factors. We report a case of pretibial EB in a 15-year-old ethnic Kashmiri girl who presented with a history of blisters over legs of 3 years duration.

Late-onset pretibial recessive dystrophic epidermolysis bullosa

Pretibial epidermolysis bullosa (EB) is a rare form of localized dystrophic EB, characterized by recurrent blistering and scarring plaques occurring predominantly in the pretibial area. In most cases, nail dystrophy, especially of the toenails, is also present. Often there are no clinical abnormalities at birth, and the disorder may only appear after several years. We report a patient who developed symptoms in his fifth decade. Genetic testing identified compound heterozygosity for two pathogenic mutations in the COL7A1 gene. This case highlights a rare variant of mechanobullous disease, and stresses the importance of molecular screening in establishing a correct diagnosis. Precisely why the disorder specifically localizes to the shins or why it may only become apparent in later life is not known.

A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: Report of a Chinese family with intra-familial phenotypical diversity

Pretibial epidermolysis bullosa (PEB) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB) caused by mutation of the COL7A1 gene. More than 730 mutations have been identified in patients with DDEB, but only five mutations have been found to be related to PEB. In this study, a novel heterozygous nucleotide G>T transition at position 6101 in exon 73 of COL7A1 was detected, which resulted in a glycine to valine substitution (G2034V) in the triple-helical domain of type-VII collagen. This is the first report to show that one mutation caused a broad range of severity of disease in one family with PEB. These data suggest that c.6101G>T may influence the phenotype of PEB. They also contribute to the expanding database on COL7A1 mutations.

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

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.

Pretibial epidermolysis bullosa

A 47-year-old Vietnamese woman presented with dystrophic fingernails and toenails that had been present since infancy. She also had developed, in the third decade, pretibial pruritus with vesicle formation and progressive localized papules and scars. Multiple family members were similarly affected. Physical examination showed lichenoid papules that coalesced into large plaques that were studded with milia over the pretibial areas and 20 nail dystrophy. A biopsy specimen showed milia-like structures and dermal fibrosis. Pretibial epidermolysis bullosa is a rare variant of dystrophic epidermolysis bullosa that shows appreciable clinical overlap with dystrophic epidermolysis bullosa pruginosa. Both disease subsets are characterized by the late age of onset, nail dystrophy, and predominantly pretibial pruritic lichenoid skin lesion; they are associated with glycine substitution mutations in COL7A1.

Ulcers in pretibial epidermolysis bullosa. Grafting with autologous meshed split-thickness skin and allogeneic cultured keratinocytes

REPORT OF A CASE In 1973, a 52-year-old woman presented with numerous lichenoid plaques and papules and a few flaccid bullae on both knees and the pretibial zones ( Figure 1 ). A few isolated papules were also seen. All toenails were dystrophic. The patient suffered from extreme pruritus. While erythematous plaques were present on her knees since the age of 11 years, the clinical picture became dramatically more severe after the patient reached the age of 50. 1 The patient denied the presence of similar lesions in family members. In 1989, the clinical picture became dominated by the presence of multiple ulcers of various sizes on the pretibial areas ( Figure 2 ). The ulcers were surrounded by a fragile, poikilodermatous skin. During hospitalization, bullae appeared after minor trauma. These nonhealing bullae continuously resulted in multiple ulcers. Histologic analysis of a fresh blister by light and electron microscopy and immunohistologic studies with bullous

Genetic Linkage Between the Collagen Type VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features

Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled keratosis lichenoides chronica. Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1. Two-point linkage analysis with two intragenic polymorphisms (PvuII, AluI) in COL7A1 was performed. Strong genetic linkage between the disease in this family and COL7A1 was demonstrated by a lod score of 4.45 (theta = 0) for the AluI polymorphism. The observed intrafamilial variability of clinical phenotypes contradicts the presently proposed classification of dominantly inherited dystrophic epidermolysis bullosa.

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.

Pretibial epidermolysis bullosa (PEB) is a rare variant of dominant dystrophic EB (DDEB) in which recurrent blistering with scarring predominantly involves the pretibial skin. Although blistering appears to be localized clinically, electron microscopy of the dermalepidermal junction in patients with PEB reveals anchoring fibril abnormalities that are not restricted to the predilection sites. Furthermore, PEB cannot be distinguished from the generalized (Cockayne-Touraine and Pasini) types of DDEB on the basis of anchoring fibril morphology alone. The generalized forms of DDEB have been linked to the type VII collagen gene (COL7A1) on chromosome 3p21. In this study, we sought to test the hypothesis that mutations underlying PEB also reside in COL7A1. We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent. We identified a G-to-T transversion at nt position 7867, which results in a glycine-to-cysteine substitution (G2623C) in exon 105. This mutation was confirmed in affected family members using the loss of a SmaI restriction site, and when used for linkage analysis, together with an intragenic PvuII polymorphism and several flanking markers, resulted in a LOD score of Z = 3.61 at theta = 0 in this family. This is the first demonstration of genetic linkage and mutation analysis in PEB, and illustrates that the Cockayne-Touraine, Pasini, and now the pretibial clinical variants of DDEB are allelic, resulting from different glycine substitution mutations in the type VII collagen gene.

Pretibial epidermolysis bullosa: A clinicopathologic study

Pretibial epidermolysis bullosa (PEB) is a rare variant of dystrophic epidermolysis bullosa (DEB) that predominantly involves the pretibial skin. We report 19 cases of DEB with pretibial predilection and our findings on anchoring fibrils. Patients with blisters and scars that primarily involved the pretibial were selected. Blisters and noninvolved skin were studied by light and electron microscopy. Anchoring fibrils were quantified by morphometry. There were 19 patients from 13 families. The inheritance was autosomal dominant in 10 families and sporadic in one family, and sibling involvement was present in two families. Nail dystrophy was noted in all patients. Pruritus was a common feature. Extensive prurigo occurred in four patients. Eight patients had skin lesions that exclusively affected the legs and were diagnosed as PEB. The remaining patients also showed some albopapuloid or hypertrophic scars at sites other than the leg, features seen in the albopapuloid or Cockayne-Touraine types. These were labeled as albopapuloid PEB or Cockayne-Touraine PEB. Common ancestry and various combinations of PEB, with albopapuloid or Cockayne-Touraine type of EB, were noted in some families. Compared with normal controls, the anchoring fibrils were rudimentary and sparser in both lesional and nonpredilected normal skin, although in the latter the changes were less marked in PEB than in the albopapuloid or Cockayne-Touraine types. Common ancestry may contribute to the higher incidence of DEB, especially PEB, in Tainan, Taiwan. The abnormalities of anchoring fibrils were not restricted to the predilected site in PEB and did not distinguish PEB from other types of DEB.

(1) Pretibial epidermolysis bullosa: a report of three families

(1) Pretibial epidermolysis bullosa: a report of three families

Pretibial epidermolysis bullosa: Report of a case

Pretibial epidermolysis bullosa is a rare variant of hereditary epidermolysis bullosa that is characterized by the delayed onset of a blistering eruption limited to the pretibial area. We present a case in a 48-year-old woman. Immunofluorescence mapping demonstrated blister formation below the basement membrane. This was confirmed by ultrastructural investigations that also revealed rudimentary anchoring fibrils similar to those described in the dominant dystrophic forms of epidermolysis bullosa.

Pretibial epidermolysis bullosa: report of two families and review of the literature.

Two pretibial epidermolysis bullosa families, with a total of four cases directly examined and another eight cases known from references, were studied. Both families showed an autosomal dominant inheritance. In one family there was a case of "bullous epidermolysis albo-papular of Pasini". All cases were compared with those of the literature.