Bart syndrome associated with skeletal deformities: An uncommon case report

Shahidi‐Dadras, Mohammad; Niknezhad, Nasim; Asadi-Kani, Zahra; Zaresharifi, Shirin; Hamedani, Behnaz; Abdollahimajd, Fahimeh

doi:10.1111/dth.13131

Cited by 2 publications

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“…While some reports did not disclose the inheritance pattern of DEB, most patients with reported genetic mutations had RDEB. In addition, several patients with Bart's syndrome were reported to have CAS, EB, and foot deformities, such as talipes equinovarus deformity, calcaneal planovalgus, retraction of the foot, and metatarsal varus deformities 15,23,24 . A limitation in reviewing these cases is the lack of detail describing the congenital or acquired nature of these deformities and inheritance pattern of DEB.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, several patients with Bart's syndrome were reported to have CAS, EB, and foot deformities, such as talipes equinovarus deformity, calcaneal planovalgus, retraction of the foot, and metatarsal varus deformities. 15,23,24 A limitation in reviewing these cases is the lack of detail describing the congenital or acquired nature of these deformities and inheritance pattern of DEB. In contrast to acquired musculoskeletal abnormalities likely caused by recurrent blistering, a mechanism to explain the association between congenital musculoskeletal abnormalities, such as brachydactyly, has yet to be proposed.…”

Section: Discussionmentioning

confidence: 99%

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Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes

Sawka

Funk

2021

Pediatric Dermatology

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Epidermolysis bullosa (EB) encompasses a phenotypically and genetically heterogeneous group of inherited skin disorders characterized by blistering and erosions of the skin with minimal trauma. Dystrophic EB (DEB), both dominant and recessive, can be associated with several extracutaneous manifestations, including musculoskeletal deformities. Congenital deformities of the feet have rarely been reported in the literature. We describe an infant with dominant DEB and congenital absence of the skin who presented with congenital brachydactyly of the bilateral great toes.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes

Sawka

Funk

2021

Pediatric Dermatology

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Bart syndrome with musculoskeletal deformity: a rare case report

Pokhrel,

Niraula,

Ghimire

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita i.e., congenital local absence of skin, and nail abnormalities. Case Presentation: We herein present a case of a 14-year old boy with Bart Syndrome. The syndrome was diagnosed clinically. On examination, multiple generalized blisters were present and absence of nails in toes of both feet and middle finger of left hand which was associated with musculoskeletal deformity. Discussion: Bart Syndrome, an inherited autosomal dominant disorder, is an exceedingly rare disorder. Musculoskeletal deformity is an uncommon presentation of this syndrome. It is mostly associated with Dystrophic type of EB. It is mostly a clinical diagnosis however, histopathological study, direct immunofluorescence, and genetic testing helps in diagnosing the type of EB. Conclusion: The absence of skin in a localized area at birth is a crucial indicator for diagnosing Bart Syndrome at birth which later heals and can obscure the diagnosis. Early diagnosis and conservative management prevent the disease progression and complications.

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Bart syndrome associated with skeletal deformities: An uncommon case report

Abstract: Bart syndrome is a rare genetic disorder characterized by aplasia cutis congenita, epidermolysis bullosa (EB), and nail abnormalities. We reported an unusual case of Bart syndrome associated with skeletal abnormalities and bilateral clubfoot.

Cited by 2 publications

References 11 publications

Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes

Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes

Bart syndrome with musculoskeletal deformity: a rare case report

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