Innovative Treatment Approach for Aplasia Cutis Congenita Type VI (Bart’s Syndrome) using Amniotic Fluid-derived Extracellular Vesicles and Local Coconut Cellulose Dressing

Abstract Aplasia cutis congenita type VI or Bart’s syndrome is a rare genetic mechanobullous disorder characterized by congenital skin aplasia of the extremities, metatarsus varus, blistering lesions, and nail abnormalities. This case report investigates the clinical presentation, diagnostics, and therapeutic management of a Bart’s syndrome case, highlighting a potential treatment involving coconut cellulose and amniotic fluid-derived extracellular vesicles (exosomes). This is a case of a male infant, born via Normal vaginal delivery (NVD) to a 25-year-old, G2P2 mother with an unremarkable pregnancy. He presented with an absence of skin over the anteromedial aspect of the lower extremities, along with metatarsus varus and dystrophic nails upon birth. Within 24 h, blisters developed on the preexisting lesions and on the unaffected skin in response to minor trauma or friction. A comprehensive workup was done, all yielding normal results. Skin biopsy from the thigh revealed a subepidermal split consistent with epidermolysis bullosa. Notably, ELISA test for type VII collagen demonstrated normal results, creating a diagnostic dilemma. Due to logistical considerations, genetic testing was not pursued. The diagnosis was based on clinicohistopathological features conclusive of Bart’s syndrome. Conservative wound care was initiated, using amniotic fluid-derived exosomes applied topically twice a day for 5 days and coconut cellulose dressings every 3 days. Within 3 weeks, significant re-epithelialization was noted. Subsequent follow-up assessments demonstrated a consistent trend of improvement. Utilizing locally sourced coconut cellulose dressings presents a cost-effective therapeutic option for patients with Bart’s syndrome. In addition, investigating the potential of amniotic-derived exosomes provides promising avenues to accelerate the healing process.

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Publication Details

Journal
Asian journal of pediatric dermatology.
Published
2024-09-01
DOI
https://doi.org/10.4103/ajpd.ajpd_37_24
Primary Topic
Skin and Cellular Biology Research
Type
article
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article

Innovative Treatment Approach for Aplasia Cutis Congenita Type VI (Bart’s Syndrome) using Amniotic Fluid-derived Extracellular Vesicles and Local Coconut Cellulose Dressing

Wilsie Martillano Salas-Walinsundin, Kelsie Kirsty C. Santos
Asian journal of pediatric dermatology.
Skin and Cellular Biology Research
article

Innovative Treatment Approach for Aplasia Cutis Congenita Type VI (Bart’s Syndrome) using Amniotic Fluid-derived Extracellular Vesicles and Local Coconut Cellulose Dressing

Wilsie Martillano Salas-Walinsundin, Kelsie Kirsty C. Santos
article en

Abstract

Abstract Aplasia cutis congenita type VI or Bart’s syndrome is a rare genetic mechanobullous disorder characterized by congenital skin aplasia of the extremities, metatarsus varus, blistering lesions, and nail abnormalities. This case report investigates the clinical presentation, diagnostics, and therapeutic management of a Bart’s syndrome case, highlighting a potential treatment involving coconut cellulose and amniotic fluid-derived extracellular vesicles (exosomes). This is a case of a male infant, born via Normal vaginal delivery (NVD) to a 25-year-old, G2P2 mother with an unremarkable pregnancy. He presented with an absence of skin over the anteromedial aspect of the lower extremities, along with metatarsus varus and dystrophic nails upon birth. Within 24 h, blisters developed on the preexisting lesions and on the unaffected skin in response to minor trauma or friction. A comprehensive workup was done, all yielding normal results. Skin biopsy from the thigh revealed a subepidermal split consistent with epidermolysis bullosa. Notably, ELISA test for type VII collagen demonstrated normal results, creating a diagnostic dilemma. Due to logistical considerations, genetic testing was not pursued. The diagnosis was based on clinicohistopathological features conclusive of Bart’s syndrome. Conservative wound care was initiated, using amniotic fluid-derived exosomes applied topically twice a day for 5 days and coconut cellulose dressings every 3 days. Within 3 weeks, significant re-epithelialization was noted. Subsequent follow-up assessments demonstrated a consistent trend of improvement. Utilizing locally sourced coconut cellulose dressings presents a cost-effective therapeutic option for patients with Bart’s syndrome. In addition, investigating the potential of amniotic-derived exosomes provides promising avenues to accelerate the healing process.

Asian journal of pediatric dermatology.Vol. 2(3)
East Avenue Medical Center (PH)
Openalex Percentile: Top 73%
Skin and Cellular Biology Research
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Innovative Treatment Approach for Aplasia Cutis Congenita Type VI (Bart’s Syndrome) using Amniotic Fluid-derived Extracellular Vesicles and Local Coconut Cellulose Dressing — Wilsie Martillano Salas-Walinsundin, Kelsie Kirsty C. Santos · Asian journal of pediatric dermatology. (2024) | TGRS Research Map | TGRS