Filter by keywords:



Filtering documents. Please wait...

11/126. Surgical treatment of pseudosyndactyly of the hand in epidermolysis bullosa: histological analysis of an acellular allograft dermal matrix.

    Recessive dystrophic epidermolysis bullosa is an inherited mechanobullous disorder of skin and mucous membranes. The most striking clinical characteristic of the disease is the formation of blisters following trivial trauma. Repeated cycles of blistering and scarring result in gradual encasement of the hand in an epidermal "cocoon." The authors treated an 11-year-old boy with recessive dystrophic epidermolysis bullosa who presented with hand contractures and interdigital pseudosyndactyly. Treatment included release of contractures and application of a biosynthetic dermal analog. This report is a histological analysis of the dermal matrix 1 year after initial placement of the allograft. fibroblasts repopulating the dermal allograft had a normal synthetic phenotype and lacked the myofibroblastic features seen in the ungrafted control biopsy. Collagen and elastin in the repopulated dermal allograft had normal dermal orientation and maturity in contrast to the sparse, immature collagen and lack of elastin compared with the dermis of an ungrafted control region. Results of this histological study indicate that treatment of recessive dystrophic epidermolysis bullosa with an acellular human dermal allograft may restore some features of normal dermal architecture. Although the initial results are encouraging, longer follow-up is required before definitive conclusions can be made.
- - - - - - - - - -
ranking = 1
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)

12/126. Surgical management of hand contractures and pseudosyndactyly in dystrophic epidermolysis bullosa.

    The term epidermolysis bullosa refers to a group of disorders characterized by skin blistering following minor trauma. The hands, because of constant use during normal daily activity, are especially exposed to blistering, with secondary scarring leading to pseudosyndactyly, adduction contracture of the thumb, and flexion or extension contracture of the fingers. The standard surgical approach for the correction of these deformities is based on the incisional release of pseudosyndactyly and contractures, and split skin grafting of the secondary wounds. A simplified approach without skin grafting is presented in this paper. Four children (8 hands) underwent 25 operations over two decades. The results, in terms of postoperative healing and recurrence, were comparable with those of the standard approach involving skin grafting.
- - - - - - - - - -
ranking = 0.82068913080966
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)

13/126. ichthyosis bullosa of siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.

    ichthyosis bullosa of siemens (IBS) is an autosomal dominant disorder of keratinization. It is characterized by a mild epidermolytic ichthyosis which tends to localize to the flexures. Affected individuals are born with widespread blistering, which develops into large hyperkeratotic plaques over the extremities. Mutations in the K2e gene cause epidermolytic hyperkeratosis confined to the upper spinous and granular layers, as observed in IBS. In this report, we describe a novel mutation in the keratin 2e gene in a four-generation IBS kindred of German ancestry. The mutation resides within the 2B helix termination motif of the keratin 2e gene, and extends the body of evidence implicating keratin 2e gene mutations in IBS.
- - - - - - - - - -
ranking = 0.07586245296994
keywords = bullosa
(Clic here for more details about this article)

14/126. Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.

    Pretibial epidermolysis bullosa (PEB) is a rare form of localized epidermolysis bullosa dystrophica (EBD), a heterogeneous group of inherited, blistering diseases characterized by scarring, loss of dermal-epidermal adhesion and altered anchoring fibrils (AF). Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified. We report a 33-year-old man affected by PEB showing abnormal AF and reduced immunostaining for type VII collagen. mutation search in the COL7A1 gene revealed a 14 bp deletion in the 115 exon-intron boundary (33563del14), which resulted in the in-frame skipping of exon 115 with elimination of 29 amino acids from the pro-alpha1(VII) polypeptide chain. As a consequence, procollagen VII failed to be processed to mature collagen VII and accumulated at the dermal-epidermal junction, as revealed by immunofluorescence staining using a NC-2 domain-specific antibody. The proband's father was a clinically unaffected heterozygous carrier of mutation 33563del14, whereas the maternal pathogenetic mutation has still not been identified. This represents the first report of a recessive deletion mutation in PEB and extends the range of EBD phenotypes associated with mutation 33563del14.
- - - - - - - - - -
ranking = 0.98482695697159
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)

15/126. Crusted (Norwegian) scabies in a patient with dystrophic epidermolysis bullosa.

    A 13-year-old girl with severe non-mutilating recessive dystrophic epidermolysis bullosa (EB) was admitted to hospital because of a Staphyloccus aureussepsos, deterioration of her general condition and worsening of her skin disease, which itched severely. In addition to the blisters and erosions normally seen, she was covered from head to toe with scales and hyperkeratotic crusts. Despite intensive topical therapy, her skin condition did not improve significantly until scabies was detected and treated 1 week after admission. Because of the huge number of mites found and the crusted appearance, a diagnosis of crusted (Norwegian) scabies was made. She was successfully treated with two doses of ivermectin orally and one application of lindane ointment. permethrin cream was not tolerated. In this patient crusted scabies may have developed because of: (i) a modified host response due to malnourishment; (ii) inability to scratch because of the absence of fingernails; and (iii) abnormal scratching behaviour because of the vulnerability of EB skin, or a combination of these factors. Limited isolation measures were taken on admission and full measures were taken immediately after the diagnosis of crusted scabies was made. Prophylactic treatment of ward personnel was not undertaken. Fortunately, there was not an outbreak of scabies in the hospital.
- - - - - - - - - -
ranking = 0.67172434767614
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)

16/126. Periodontal plastic surgery in a dystrophic epidermolysis bullosa patient: review and case report.

    Epidermolysis bullosa (EB) is a group of genetic disorders in which patients frequently present with fragile skin and mucosal surfaces that blister following minor trauma; 23 subtypes have been recognized, but their precise pathogenesis and etiology remain obscure. There is no treatment for EB, only palliative therapy. Oral bullae are the most common oral finding and affect all surfaces. patients with EB present a unique challenge in terms of periodontal therapy. The following article reviews this disorder and describes the complications encountered when providing periodontal plastic surgery to a patient exhibiting this condition. A 36-year-old female with dystrophic EB presented for treatment of a 3 mm recession area with minimal attached gingiva on the facial of #24 and 25. Oral evaluation revealed multiple ulcers. The treatment consisted of a subepithelial connective tissue graft in conjunction with a coronally positioned flap and buccal frenectomy. Most of the epithelium associated with the surgical area and buccal vestibule sloughed. During the postoperative course, the frenum had regenerated at a more coronal level and was applying tension on the gingival tissues. It appeared that a connective tissue union had formed between the de-epithelialized surface of the facial flap and the buccal mucosa of the vestibule. A second frenectomy was performed, and a clear acrylic stent was fabricated to prevent the union of the connective tissue of the facial flap to the buccal mucosa. The stent prevented the fusion of both connective tissue layers and allowed time for epithelium migration.
- - - - - - - - - -
ranking = 0.67172379524171
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)

17/126. Squamous cell carcinoma secondary to recessive dystrophic epidermolysis bullosa: report of eight tumours in four patients.

    BACKGROUND: The development of squamous cell carcinomas is the main cause of death of patients with Dystrophic epidermolysis bullosa. We think it is of interest to know their clinical characteristics and the treatment difficulties they cause. methods: We followed the clinical evolutions and carried out histopathological studies of eight primary cutaneous squamous cell carcinomas on three males and one female with recessive dystrophic epidermolysis bullosa. Patient ages ranged from 16 to 34 years (mean 27). RESULTS: Two patients had two tumours and one three, all were in characteristically scarred skin; four on upper limbs; four on lower. Maximum tumour dimensions ranged from 2 to 28 cm (mean 13), and represented 6 or more months of evolution. In three cases the affected limb must be amputated. Five tumours were well differentiated, three were moderately differentiated. CONCLUSIONS: The patients consulted too late and their large lesions needed aggressive treatment. Appropriate information and regular examination of patients with RDEB helps early diagnosis of tumours and may avoid disabling operations.
- - - - - - - - - -
ranking = 0.98482695697159
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)

18/126. Renal amyloidosis in recessive dystrophic epidermolysis bullosa.

    BACKGROUND: Although it is known that renal amyloidosis may complicate several dermatoses, recessive dystrophic epidermolysis bullosa (RDEB) complicated by nephropathy has been thought to be rare. We, however, had seen a young adult with RDEB who died of renal failure due to systemic amyloidosis. OBJECTIVE: A retrospective study was performed in order to investigate the incidence and etiology of renal amyloidosis in RDEB. methods: Routine urinalysis, serum amyloid a protein (SAA) and creatinine levels were repeatedly determined in 11 patients with RDEB (mean age 17.7 years, range 5-28, 7 males, 4 females). Nephropathy was defined as the presence of both proteinuria and hematuria with red blood cell casts. RESULTS: Seven out of 9 generalized RDEB patients had nephropathy including 3 cases with end-stage renal disease (2 died within 2 years from the onset of nephropathy), while 2 patients with localized RDEB did not. Levels of SAA were significantly higher in patients with nephropathy than those in patients without nephropathy (p<0.05). CONCLUSION: Nephropathy is a common and serious complication of RDEB. Renal amyloidosis may play an important role in its etiology. We recommend that patients with RDEB should be periodically screened for nephropathy due to amyloidosis by urinalysis and measuring SAA levels.
- - - - - - - - - -
ranking = 0.82068913080966
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)

19/126. Clinical application of amniotic membranes on a patient with epidermolysis bullosa.

    The case of a patient with dystrophic epidermolysis bullosa treated with radiosterilised amniotic membranes is presented. The disorder is a congenital disease characterised by a poor desmosomal junction in the keratinocyte membrane. After proper donor screening, amnios were collected at Hospital Central Sur de Alta Especialidad (HCSAE), PEMEX and microbiological analysis was performed at Universidad Nacional Autonoma de mexico, FQUNAM, (biology Dept. of the chemistry faculty, National Autonomous University of mexico), before and after radiation sterilisation. Processing, packaging and sterilisation were performed at Instituto Nacional de Investigaciones Nucleares, ININ, (National Nuclear research Institute). The patient, a ten-year-old boy with severe malnutrition, extensive loss of skin and pseudomonad infection in the whole body, was treated with gentle debridement in a Hubbard bath. Later amnion application was performed with sterilised amnios by using two different processes, in one of which the amnion was sterilised with paracetic acid, preserved in glycerol, kindly donated by the German Institute for Tissue and Cell Replacement and applied by Dr. Johannes C. Bruck, IAEA visiting expert, and the other amnion was processed at ININ: air dried and sterilised by gamma radiation at dose of 30 kGy. After spontaneous epithelisation was successfully promoted for seven days, the pain was alleviated and mobility was improved in a few hours and the patient's general condition was so improved that in a month he was discharged. Unfortunately, because this disease is revertive and has malignant degeneration, the prognosis is not good.
- - - - - - - - - -
ranking = 0.82068913080966
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)

20/126. prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.

    We report the first direct molecular prenatal diagnosis, undertaken for the autosomal dominant form of dystrophic epidermolysis bullosa (DDEB). The proband had a moderately severe form of DDEB, with episodic blistering of skin and mucosal involvement. Diagnostic histopathological examination, using electron microscopy to evaluate skin from a fresh blister, demonstrated a zone of cleavage beneath the epidermal-dermal junction, thereby assigning the EB as dystrophic. dna analysis of COL7A1, the gene encoding type VII collagen, identified a heterozygous transversion (G to A) in the triple helix domain (G2043R). For any subsequent pregnancy, the affected mother and the unaffected father of the proband requested prenatal prediction, which was thereafter carried out in dna extracted from a chorionic villus sample obtained at 11 weeks of gestation. Restriction enzyme analysis of COL7A1 exons 73 and 74 amplified by PCR, demonstrated the presence of the G2043R mutation, and the pregnancy was subsequently terminated. Molecular analysis of dna extracted from fetal tissues confirmed the prenatal prediction.
- - - - - - - - - -
ranking = 0.82068913080966
keywords = epidermolysis bullosa, bullosa, epidermolysis
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Epidermolysis Bullosa Dystrophica'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.