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Pyloric Atresia Associated with Epidermolysis Bullosa: A Report of 4 Survivals in 5 Cases
Alireza Alam-Sahebpoor,Vajihe Ghaffari,Leila Shokoohi
Iranian Journal of Pediatrics , 2007,
Abstract: Objective: Pyloric atresia (PA) is a rare congenital anomaly that constitutes approximately 1% of all intestinal atresias, and its incidence is approximately 1 in 100,000 live births. PA may occur as an isolated condition or associated with other abnormalities, the most common being Junctional epidermolysis bullosa (EB). Evidence suggests that PA-EB is a distinct entity. In this report, we present 5 cases of pyloric atresia associated with Junctional epidermolysis bullosa, 4 of whom survived after surgery. Cases Presentation: Prospective evaluation of 5 patients with pyloric atresia associated with Epidermolysis bullosa undergoing therapeutic surgery. Biopsy of the fresh bulla was compatible with Junctional EB in all 5 patients. All patients underwent laparatomy after stabilization. Four neonates underwent gastroduodenostomy, and one patient had excision of membrane and pyloroplasty. Out of 5 neonates, 4 survive and one died from fulminant septicemia 12 days after operation.Conclusion: Although association of PA with EB has been reported to be fatal, recently there have been encouraging reports of survival among these patients. These 5 patients underwent surgery and survived, and are doing well on follow up.
Yousuf Aziz Khan,Naima Zamir
Journal of Neonatal Surgery , 2012,
Abstract: Congenital pyloric atresia is a rare anomaly accounting for less than 1% of upper GI atresias. It may occur in isolation or in association with other congenital anomalies, epidermolysis bullosa being the most frequent. It presents with upper abdominal distension, non-bilious vomiting or rarely with complications as aspiration pneumonia, electrolyte imbalance or gastric perforation. Though iatrogenic gastric perforations secondary to aggressive resuscitation with bag-mask ventilation and nasogastric intubation are the most frequent in newborns, neonatal gastric perforation due to congenital outlet obstruction have rarely been reported.
Epidermolysis bullosa
Patra A,Deora M,Ramadasan P
Indian Journal of Dermatology, Venereology and Leprology , 2002,
Abstract: A case of recurrent vesiculobullous eruptions over shins, clinically diagnosed as epidermolysis bullosa of pretibial variety confirmed by electron microscope is reported here as a rare variety of localised epidermolysis bullosa (EB).
A Frameshift Mutation within LAMC2 Is Responsible for Herlitz Type Junctional Epidermolysis Bullosa (HJEB) in Black Headed Mutton Sheep  [PDF]
Stefanie M?mke,Andrea Kerkmann,Anne W?hlke,Miriam Ostmeier,Marion Hewicker-Trautwein,Martin Ganter,James Kijas,Ottmar Distl
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0018943
Abstract: Junctional epidermolysis bullosa (JEB) is a hereditary mechanobullous skin disease in humans and animals. A Herlitz type JEB was identified in German Black Headed Mutton (BHM) sheep and affected lambs were reproduced in a breeding trial. Affected lambs showed skin and mucous membranes blistering and all affected lambs died within the first weeks of life. The pedigree data were consistent with a monogenic autosomal recessive inheritance. Immunofluorescence showed a reduced expression of laminin 5 protein which consists of 3 subunits encoded by the genes LAMA3, LAMB3 and LAMC2. We screened these genes for polymorphisms. Linkage and genome-wide association analyses identified LAMC2 as the most likely candidate for HJEB. A two base pair deletion within exon 18 of the LAMC2 gene (FM872310:c.2746delCA) causes a frameshift mutation resulting in a premature stop codon (p.A928*) 13 triplets downstream of this mutation and in addition, introduces an alternative splicing of exon 18 LAMC2. This deletion showed a perfect co-segregation with HJEB in all 740 analysed BHM sheep. Identification of the LAMC2 deletion means an animal model for HJEB is now available to develop therapeutic approaches of relevance to the human form of this disease.
Antigen mapping in hereditary epidermolysis bullosa
Srinivas C,Sandra A,Shenoi S,Pai S
Indian Journal of Dermatology, Venereology and Leprology , 1998,
Abstract: Standard immunofluorescence tests are not positive in the various inherited epidermolysis bullosa (EB). Using antibodies to known antigens present in the basement membrane zone, antigen mapping can be done by immuno fluorescence, to determine the level of blistering and establish the diagnosis. We report three cases of junctional EB and one case of dystrophic EB in whom the diagnosis was confirmed by antigen mapping.
Epidermolysis bullosa dystrophica inversa: A case report  [PDF]
Enver Turan,Mehmet Salih Güre,Asl? Turgut Erdemir,Burcu I??k
Journal of Clinical and Experimental Investigations , 2012,
Abstract: Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, mechanobullous disorders characterized by blister formation in response to mechanical trauma. Three major subgroups, simplex, junctional, and dystrophic EB, contain more than 20 genetically and clinically distinct subtypes. Epidermolysis bullosa dystrophica inversa (DEB-I), which is a rarely seen form of epidermolysis bullosa, shows autosomal recessive inheritance and it is characterized by bulla formation and erosions on flexural areas, frequently affecting the oral and esophageal mucosa. Blistering rash occurs in the newborn period, which in early childhood heals with atrophic scars. DEB-I is rarely seen in adults period, with only a few case reports in the literature. In the present case, we described a patient diagnosed with epidermolysis bullosa dystrophica inversa due to presence of typical clinical features and histopathological and immunofluorescence findings. J Clin Exp Invest 2012; 3 (3): 412-414Key words: Blistering disorders, mechanobullous, epidermolysis bullosa
Epidermolysis bullosa pruriginosa  [cached]
Yesudia P,Krishnan SGS,Jayaraman M,Janaki V
Indian Journal of Dermatology, Venereology and Leprology , 2000,
Abstract: Epidermolysis bullosa pruriginosa is a recently described variant of epidermolysis bullosa dystrophica. It is characterised by pruritic nodular prurigo like lesions, milia and with a histopathology of a subepidermal blister. We report 3 cases of this new variant.
Epidermolysis bullosa simplex: A case report
O Peterside, OE Kunle-Olowu, OO Adeyemi, FO Akinbami, J Omene
Nigerian Journal of Paediatrics , 2012,
Abstract: Epidermolysis bullosa (EB) is a rare hereditary cutaneous disorder inherited mainly in an autosomal dominant fashion. It consists of a group of conditions that cause the skin to be fragile and blister easily. EB has been classified into three types namely; simplex, junctional and dystrophic. Although all three types of EB have different causes, their symptoms are similar, manifesting as painful blisters and sores. Epidermolysis bullosa is a very rare condition but may probably be more common in clinical practice than reported in literature, especially in places like Nigeria where there is under reporting of clinical cases. To the knowledge of the authors, there are few reported cases in Nigeria and none from Bayelsa State in the delta region of the country. We herein present a case of epidermolysis bullosa simplex (Dowling Meara type) in a 35 day old infant. This case is reported with the aim of increasing awareness of its existence in Nigeria and Bayelsa State in particular.
Epidermolysis Bullosa Acquisita  [cached]
Gangopadhyay Asok Kumar
Indian Journal of Dermatology , 1997,
Abstract: A 35 years old man presented with features of epidermolysis bullosa acquisita. Here is the case report.
Molecular Identification of Collagen 17a1 as a Major Genetic Modifier of Laminin Gamma 2 Mutation-Induced Junctional Epidermolysis Bullosa in Mice  [PDF]
Thomas J. Sproule,Jason A. Bubier,Fiorella C. Grandi,Victor Z. Sun,Vivek M. Philip,Caroline G. McPhee,Elisabeth B. Adkins,John P. Sundberg,Derry C. Roopenian
PLOS Genetics , 2014, DOI: doi/10.1371/journal.pgen.1004068
Abstract: Epidermolysis Bullosa (EB) encompasses a spectrum of mechanobullous disorders caused by rare mutations that result in structural weakening of the skin and mucous membranes. While gene mutated and types of mutations present are broadly predictive of the range of disease to be expected, a remarkable amount of phenotypic variability remains unaccounted for in all but the most deleterious cases. This unexplained variance raises the possibility of genetic modifier effects. We tested this hypothesis using a mouse model that recapitulates a non-Herlitz form of junctional EB (JEB) owing to the hypomorphic jeb allele of laminin gamma 2 (Lamc2). By varying normally asymptomatic background genetics, we document the potent impact of genetic modifiers on the strength of dermal-epidermal adhesion and on the clinical severity of JEB in the context of the Lamc2jeb mutation. Through an unbiased genetic approach involving a combination of QTL mapping and positional cloning, we demonstrate that Col17a1 is a strong genetic modifier of the non-Herlitz JEB that develops in Lamc2jeb mice. This modifier is defined by variations in 1–3 neighboring amino acids in the non-collagenous 4 domain of the collagen XVII protein. These allelic variants alter the strength of dermal-epidermal adhesion in the context of the Lamc2jeb mutation and, consequentially, broadly impact the clinical severity of JEB. Overall the results provide an explanation for how normally innocuous allelic variants can act epistatically with a disease causing mutation to impact the severity of a rare, heritable mechanobullous disorder.
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