Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study

Chiavérini, C.; Charlesworth, A.; Fernandez, Arnaud; Barbarot, S.; Bessis, D.; Bodemer, Christine; Bursztejn, A.‐C.; Cobo, A-M.; Río, Marcela Del; D’Incan, M.; Labrèze, Christine; Langlet, C.; Mazereeuw, J.; Miquel, J.; Vabres, P.; Meneguzzi, Guerríno; Lacour, Jean‐Philippe

doi:10.1111/bjd.12741

Cited by 35 publications

(45 citation statements)

References 26 publications

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“…Finally, we note that lesion 1 was positioned at a site where lesions are frequently observed in patients with EB since it is a position prone to friction in uterus 5. These deep skin ulcers, which are localised on the shin, often force the newborn's foot into a bent pose.…”

Section: Discussionmentioning

confidence: 86%

Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa

et al. 2015

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SUMMARYEpidermolysis bullosa (EB) is comprised of a group of hereditary mechanobullous disorders that are characterised by extremely fragile skin and mucous membranes. This results in blister formation and nonhealing wounds. This case report describes the results of an innovative treatment of two large skin lesions in a newborn with dystrophic recessive EB (DEB) who experienced bacterial superinfections and progressive anaemisation. The lesions were treated with platelet gels derived from allogeneic cord blood (cord blood platelet gel, CBPGs). The skin lesions were clinically evaluated and treated with CBPG weekly until they completely healed. The first and second lesion required CBPG applications for 2 and 4 weeks, respectively. Both lesions were monitored weekly for 6 weeks after the last CBPG application, and no significant relapses were observed during the follow-up period. This case indicates that CBPG is an effective and safe therapeutic option for managing newborns with DEB, particularly as treatment and prevention of fluid loss and superinfection. BACKGROUND

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Section: Discussionmentioning

confidence: 86%

Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa

et al. 2015

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“…The only genotype-phenotype correlation hypothesis to date suggested that missense pathogenic variants occurring near noncollagenous interruptions of the triple-helix domain (THD) of collagen VII could explain the occurrence of CAS in DEB. 2 In our case series, considering exclusively patients with DEB caused by missense variants, nine out of 11 carried at least one variant close to the noncollagenous interruptions. These variants are predicted to lead to the formation of a less stable thermosensitive protein, which could explain this phenomenon.…”

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confidence: 79%

“…1 A few case reports have suggested that CAS is a rare clinical sign associated with all main EB types, including dominant and recessive inheritance of EB. 1,2 Our objective in this study was to characterize the clinical and genetic features of a case series of 23 patients with EB and CAS.…”

mentioning

confidence: 99%

“…These variants are predicted to lead to the formation of a less stable thermosensitive protein, which could explain this phenomenon. 2 Premature termination codon (PTC) variants leading to the complete absence of collagen VII are commonly associated to the most severe subtypes of DEB. It is plausible that the skin fragility itself is the cause of CAS for the severe cases associated with PTC variants.…”

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confidence: 99%

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Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23‐case series

Mariath

Santin

Frantz³

et al. 2020

Clinical Genetics

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To the Editor: Epidermolysis bullosa (EB) with congenital absence of skin (CAS), previously referred to as Bart's syndrome, is characterized by the coexistence of inherited EB and aplasia cutis congenita. 1 A few case reports have suggested that CAS is a rare clinical sign associated with all main EB types, including dominant and recessive inheritance of EB. 1,2 Our objective in this study was to characterize the clinical and genetic features of a case series of 23 patients with EB and CAS. The patients were recruited in Brazilian medical centers. Diagnostic criteria were based on the consensus report by Has et al. 3 The present study was approved by the Ethics Committee of the Universidade Federal do Rio Grande do Sul (project 31 608) and Plataforma Brasil (protocol 2.481.885). DNA was extracted from saliva and/or whole blood samples. Genetic analysis was performed through a next-generation sequencing (NGS)-based multigene panel on Ion Torrent Platform (Thermo Fisher Scientific, USA). This panel covers

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“…The sixth group of the disease—called Bart syndrome—is characterized by coexistence of any type of epidermolysis bullosa, ACC on the lower extremities or the trunk and nail abnormalities. In more severe cases particularly when associated with junctional epidermolysis bullosa, it may be accompanied by other abnormalities most often pyloric atresia, ureteral stenosis, renal abnormalities, arthrogryposis, abnormal ears and nose, and amniotic bands (Chiaverini et al, ; Frieden, ). Interestingly, our patient presented with skeletal deformities in addition to the characteristic features of Bart syndrome.…”

Section: Discussionmentioning

confidence: 99%