Aim: A giant congenital nevus is a melanocytic nevus present at birth with wide extent on the skin surface. The management of this nevus remains controversial and needs to be personalized for each patient.
Methods: A retrospective multicenter study was carried out in the Dermatological Departments of Brescia, Padua, and Pavia, Italy. The inclusion criterion was the diagnosis of a giant congenital melanocytic nevus on the basis of clinical observation.
Results: Nine patients with giant congenital nevus are reported. None developed melanoma, whereas giant congenital nevi have been slowly fading in pigmentation.
Conclusion: Having regard to the doubts on treatment that persist in the literature, we should consider that decisional management of giant congenital melanocytic nevi can be really complex, because of the size and depth of lesions. Indeed, the ablative surgery or other treatments might cause significant troubles and complete excision of deeper layers of the lesion is almost impossible to achieve. Moreover, the treatment does not reduce the risk of melanoma and might lead to a greater difficulty in clinical and dermoscopic observation due to the scarring occurrence after therapy. In our retrospective study, the pigmentation of giant congenital melanocytic nevi slowly faded on its own and until now none developed melanoma. Therefore, we suggest a close regular follow-up which should be focused on the exclusion of possible complications. Perhaps, it would be better "to wait and see" since other procedures do not decrease the risk of melanoma, but rather might lead the patient to underestimate it.
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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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