Aplasia cutis congenita (ACC) is a rare entity characterized by a congenital localized absence of the skin, dermal appendages, and subcutaneous tissue. The cause of ACC is not clear, but inheritance is the most widely accepted cause. We report a rare case of a full-term (37 + 5 weeks) female newborn who showed complete absence of skin in localized areas of the upper and lower extremities. The patient was diagnosed with ACC associated with epidermolysis bullosa (EB; a disease that causes the skin to blister easily) and was initially treated using conservative measures. We applied mupirocin topical ointment and a nonocclusive polyester mesh impregnated with hydrocolloid and petroleum jelly daily. Complete healing of the affected areas occurred after 3 weeks. Managing patients with ACC is often challenging and based on the severity of the lesions, the approach may include both surgical and conservative treatment. Our case report suggests that a conservative approach can be effective for managing certain types of ACC and EB lesions. However, further research is warranted to better understand the pathogenesis and optimal management of this entity.
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http://dx.doi.org/10.1097/PSN.0000000000000511 | DOI Listing |
Med J Armed Forces India
December 2024
Professor (Pediatrics), Army Hospital (Research & Referral), Delhi Cantt, India.
Case Rep Dermatol
December 2024
Department of Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakrah, Qatar.
Introduction: Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the localized absence of skin at birth, primarily affecting the scalp but also affecting the trunk and limbs. Nine different presentations have been reported. Group V-ACC (G-V ACC) is a rare type associated with fetus papyraceus.
View Article and Find Full Text PDFJ Orthop Case Rep
December 2024
Department of Cardiology, SCB Medical College and Hospital, Cuttack, Odisha, India.
Introduction: Developmental dysplasia of the hip (DDH) describes a spectrum of disorders affecting the neonatal hip. Trachyonychia or twenty nail dystrophy refers to thin, brittle nails with excessive longitudinal ridging affecting all twenty nails. Alopecia universalis congenita (ALUNC) is a rare anomaly affecting skin and appendages.
View Article and Find Full Text PDFAnn Med Surg (Lond)
December 2024
Nepal Medical College and Teaching Hospital, Kathmandu, Nepal.
Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita, that is congenital local absence of skin and nail abnormalities.
Case Presentation: The authors herein, present a case of a 14-year-old boy with Bart syndrome. The syndrome was diagnosed clinically.
Ann Med Surg (Lond)
December 2024
University of Health Sciences, Adana Faculty of Medicine, Adana City Education and Research Hospital, Department of Pediatric Hematology and Oncology, Adana, Turkey.
Introduction And Importance: Dyskeratosis congenita (DC) is a rare multisystem disorder primarily characterized by bone marrow failure due to telomere shortening. Typical clinical features include oral leukoplakia, skin hyperpigmentation, and nail dystrophy, along with an increased risk of malignancies. Hoyeraal-Hreidarsson syndrome (HH), a severe variant of DC, is associated with profound neurological and immunological complications, emphasizing the importance of early diagnosis and genetic evaluation to guide appropriate management.
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