Giant congenital nevi are one of several skin conditions in the pediatric patient population whose treatment leaves the patient with large skin defects. The giant congenital nevus is a rare pigmented skin lesion that covers large skin areas or affects any major or difficult-to-treat region of the body, such as the face. Congenital nevi should be excised fully because of the increased risk for malignant transformation to melanoma, as well as cosmetic considerations. However, after excision patients are left with large wounds that are difficult to close. Traditionally these defects have been repaired with split-thickness skin grafts, full-thickness skin grafts, the use of tissue expanders, and a variety of flaps. However, each of these methods has its disadvantages and thus cannot be used in all cases. Recently, new methods have been developed for the closure of large skin defects in pediatric patients with the use of artificial skin substitutes. Advantages include coverage of large wounds, decrease or elimination of donor site pain and morbidity, and decreased scarring and wound contractures. The authors present these experiences through two case reports.
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http://dx.doi.org/10.1097/01.scs.0000180485.20043.d5 | DOI Listing |
J Dermatol
January 2025
Department of Dermato-Oncology/Dermatology, NHO Kagoshima Medical Center, Kagoshima, Japan.
Childs Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFJ Surg Case Rep
January 2025
Department of Surgery, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, P.O. Box Up 1279, Kumasi, Ghana.
Persistent ascending mesocolon (PAM) is a rare congenital anomaly in ⁓2%-4% of individuals. PAM is associated with various complications, including volvulus of the colon and caecum, bowel perforation, intestinal obstruction, and adhesions. This case is reported on a 48-year-old woman who reported to the Ho Teaching Hospital specialist clinic with a 13-year history of initial painless and reducible paraumbilical swelling.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
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