Late-onset pretibial recessive dystrophic epidermolysis bullosa

Abstract

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.

Splice site mutation in COL7A1 resulting in aberrant in‐frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

“…In the present case, the eruptions were not fully restricted to the pretibial region but were also observed on the calves and elbows. Such distribution of extended lesions to regions other than the pretibial have been reported in previous cases of DEB, pretibial …”

“…Such distribution of extended lesions to regions other than the pretibial have been reported in previous cases of DEB, pretibial. [2][3][4][5] Gene analysis revealed that the present patient was a compound heterozygote with a premature termination codon (PTC) mutation (p.R1933X) and a splice site mutation (c.6348+1G>A) that generated two aberrant in-frame transcripts in COL7A1. The p.R1933X mutation has already been reported to be a recurrent mutation of recessive DEB, including the Hallopeau-Siemens type, and a de novo p.R1933X mutation has also been reported.…”

“…The previously reported COL7A1 mutations in DEB, pretibial, are summarized in Figure 2. [2][3][4][5][7][8][9][10][11][12][13][14][15] Both recessive and dominant inheritance patterns have been observed in DEB, pretibial; onethird of the reported cases showed a recessive inheritance pattern while two-thirds showed a dominant inheritance pattern. While c.3840delC mutation, previously identified in both Hallopeau-Siemens type and non-Hallopeau-Siemens type DEB, was found in only two cases of DEB, pretibial, the COL7A1 mutations was highly diverse in DEB, pretibial, as with other DEB subtypes.…”

Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype

“…Pruritus is common and there is a clinicopathological overlap with epidermolysis bullosa pruriginosa. 6 Delayed diagnoses are common as clinical features can be atypical sometimes resulting in multiple ineffective therapies. 5,7 Clinical mimickers include localized bullous and lichenoid dermatoses, and patients have also been misdiagnosed as prurigo nodularis and even dermatitis artefacta.…”

“…2 However, there are few cases described in the literature of tattoo pigment in the sentinel lymph nodes of melanoma patients and represents a clinical challenge. [3][4][5][6] The tattoo ink particles, in their natural evolution, initially are in large phagosomes within the cytoplasm of phagocytic cells and keratinocytes. 5 At 2 months-40 years, ink particles are only found in dermal fibroblasts surrounded by a network of connective tissue.…”