Neonatal epidermolysis bullosa: lessons to learn about genetic counseling

Chong, Shuk Ching; Hon, Kam Lun; Yuen, Liz Y P; Choi, Pui–Wah; Ng, Wai-Yin; Chiu, Tor

doi:10.1080/09546634.2018.1527999

Cited by 8 publications

(6 citation statements)

References 27 publications

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“…6 S. aureus bacteremia has also been reported, 7 and sepsis has been identified as an important cause of death in infants with severe forms of EB. 8–11 To our knowledge, however, our is the first series to describe BSI in detail in children with EB. The causative pathogens were similar to those previously identified as common wound colonizers in these patients.…”

Section: Discussionmentioning

confidence: 93%

Bloodstream Infection in Children With Epidermolysis Bullosa

García-Espinosa

Rabes

Quintana

et al. 2023

Pediatric Infectious Disease Journal

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Background: Epidermolysis bullosa (EB) is frequently complicated by skin infection, which can lead to bacteremia. However, bloodstream infections (BSI) in patients with EB have not been well described. Methods: Retrospective study of BSI in children 0–18 years with EB from a national reference unit in Spain, in 2015–2020. Results: Among 126 children with EB, we identified 37 BSI episodes in 15 patients (14 recessive dystrophic EB, 1 junctional EB). The most frequent microorganisms were Pseudomonas aeruginosa (n = 12) and Staphylococcus aureus (n = 11). Five P. aeruginosa isolates were ceftazidime-resistant (42%), 4 of which were also resistant to meropenem and quinolones (33%). As for S. aureus, 4 (36%) were methicillin-resistant and 3 (27%) clindamycin-resistant. In 25 (68%) BSI episodes skin cultures had been performed in the previous 2 months. The most frequent isolates were also P. aeruginosa (n = 15) and S. aureus (n = 11). In 13 cases (52%), smear and blood cultures grew the same microorganism, with the same antimicrobial resistance pattern in 9 isolates. Twelve patients (10%) died during follow-up (9 RDEB and 3 JEB). BSI was the cause of death in 1 case. In patients with severe RDEB, a history of BSI was associated with higher mortality (OR 6.1, 95% CI: 1.33–27.83, P = 0.0197). Conclusions: BSI is an important cause of morbidity in children with severe forms of EB. The most frequent microorganisms are P. aeruginosa and S. aureus, with high rates of antimicrobial resistance. Skin cultures can help guide treatment decisions in patients with EB and sepsis.

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Section: Discussionmentioning

confidence: 93%

Bloodstream Infection in Children With Epidermolysis Bullosa

García-Espinosa

Rabes

Quintana

et al. 2023

Pediatric Infectious Disease Journal

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“…8 The main causes of early morbidity and mortality in severe generalised EB are septicemia, malnutrition, and electrolyte disturbances. [1][2][3][4] Hence, skin care and nutrition support must be meticulous. Malnutrition can be attributed to recurrent mucosal lesions, feeding difficulties, high energy consumption from accelerated skin turnover, transcutaneous loss of nutrients, and catabolic state from recurrent infections.…”

Section: Discussionmentioning

confidence: 99%

“…Weakness in children may have various etiologies Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited connective tissue disorders characterised by marked fragility of epithelial tissues with prototypic blistering, erosions, and non-healing ulcers following minimal rubbing or frictional trauma. 1 EB is classified into four major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely, epidermolysis bullosa simplex ( E B S ; i n t r a e p i d e r m a l s k i n s e p a r a t i o n ) , epidermolysis bullosa junctional [EBJ; skin separation in lamina lucida or central basement membrane zone (BMZ)], dystrophic epidermolysis bullosa or epidermolysis bullosa dystrophica (EBD; sublamina densa BMZ separation), and Kindler syndrome (multiple cleavage planes). 2 The fundamental pathology of EB lies on the increase in collagenase activity, leading to collagen degeneration and hence splitting of various epidermal layers or at the transition between epidermis and dermis.…”

Section: Introductionmentioning

confidence: 99%

Generalised Epidermolysis Bullosa with Severe Anaemia in an Adolescent: A Case Report

Jannawar¹,

Ahmed²,

Kulkarni³

et al. 2021

J. Nepal Paedtr. Soc.

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“…Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited connective tissue disorders characterized by marked fragility of epithelial tissues with prototypic blistering, erosions, and nonhealing ulcers following minimal rubbing or frictional trauma [1][2][3][4][5][6][7][8][9][10]. EB is classified into four major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely, epidermolysis bullosa simplex (EBS; intraepidermal skin separation), epidermolysis bullosa junctional (EBJ; skin separation in lamina lucida or central basement membrane zone (BMZ)), dystrophic epidermolysis bullosa or epidermolysis bullosa dystrophica (EBD; sublamina densa BMZ separation), and Kindler syndrome (multiple cleavage planes) [2-4, 6, 8, 11-14].…”

Section: Introductionmentioning

confidence: 99%

“…EB is classified into four major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely, epidermolysis bullosa simplex (EBS; intraepidermal skin separation), epidermolysis bullosa junctional (EBJ; skin separation in lamina lucida or central basement membrane zone (BMZ)), dystrophic epidermolysis bullosa or epidermolysis bullosa dystrophica (EBD; sublamina densa BMZ separation), and Kindler syndrome (multiple cleavage planes) [2-4, 6, 8, 11-14]. e fundamental pathology of EB lies on the increase in collagenase activity, leading to collagen degeneration and hence splitting of various epidermal layers or at the transition between epidermis and dermis [5,15]. EBS is the most common type of EB, accounting for 75 to 85% of cases of EB in the Western world [16].…”

Section: Introductionmentioning

confidence: 99%

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

Chong

Hon

Scaglia

et al. 2020

Case Reports in Pediatrics

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We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Genetic studies in these patients showed that the first case was due to a novel de novo heterozygous variant, c.377T>G (NM_000526.5 (c.377T>G, p.Leu126Arg)) in the KRT14 gene and the second case was due to a rare de novo heterozygous variant c.527A>G (NM_000424.4, c.527A>G, p.Asn176Ser) in the KRT5 gene. To our knowledge, the c.377T>G variant in the KRT14 gene has not been previously reported, and the c.527A>G variant in the KRT5 gene is a rare cause of severe generalized EBS. In severe generalized EBS, infants exhibit severe symptoms at the onset; however, they tend to improve with time. A precise genetic diagnosis in these two cases aided in counseling the families concerning the prognosis in their affected children and the recurrence risk for future pregnancies.

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Neonatal epidermolysis bullosa: lessons to learn about genetic counseling

Cited by 8 publications

References 27 publications

Bloodstream Infection in Children With Epidermolysis Bullosa

Bloodstream Infection in Children With Epidermolysis Bullosa

Generalised Epidermolysis Bullosa with Severe Anaemia in an Adolescent: A Case Report

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

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