Congenital dermal melanocytosis (CDM) is a birthmark composed of macular blue-grey hyperpigmentation commonly observed in the lumbosacral region of infants. Generally resolving by childhood, it is traditionally considered a benign condition, but it may be a sign of underlying lysosomal storage disease. We report a case of biopsy-confirmed CDM in a 2-month-old girl of Brazilian descent later diagnosed with infantile GM1 gangliosidosis.
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http://dx.doi.org/10.1111/pde.12666 | DOI Listing |
AME Case Rep
December 2024
Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.
Background: Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement.
View Article and Find Full Text PDFPlast Reconstr Surg Glob Open
January 2025
From the Division of Plastic and Reconstructive Surgery, Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Giant congenital melanocytic nevi are large pigmented premalignant lesions present at birth that have an associated risk of malignant transformation. Full-thickness excision of these lesions would be required to eliminate this risk. However, giant nevi can leave behind large defects that can be challenging to reconstruct.
View Article and Find Full Text PDFLymphat Res Biol
January 2025
Caring Futures Institute, College of Nursing and Health Sciences, Flinders University, Bedford Park, Australia.
Current understanding of changes in fluid distribution in response to the application of compression in primary lymphedema (PLE) is limited. This study measured fluid distribution before and after one application of standardized intermittent pneumatic compression (IPC) in the lower limbs of people with PLE, compared with those without lymphedema. High-frequency ultrasound (HFU) was used to measure dermal fluid, bioimpedance to measure segmental fluid, and percent water content (PWC) to measure fluid at specific anatomical points.
View Article and Find Full Text PDFBiomedicines
December 2024
Department of Orthodontics, University of Münster, 48149 Münster, Germany.
There is a lack of evidence for the relationship between sweat pores and tooth agenesis. The aim of this study was to compare sweat pore density on fingertips between a group of patients with oligodontia and a control group without tooth agenesis. This parallel-group controlled clinical trial included 28 patients.
View Article and Find Full Text PDFStem Cell Res
December 2024
Department of Cell and Developmental Biology, University College London, London WC1E 6DE, UK; Stem Cells and Neuromuscular Regeneration Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK. Electronic address:
Ullrich congenital muscular dystrophy (UCMD) represents the most severe subtype of collagen VI-related dystrophies (COL6-RDs), a spectrum of rare extracellular matrix disorders affecting skeletal muscle and connective tissue. Here, we generated an induced pluripotent stem cell (iPSC) line (CRICKi021-A) from a UCMD patient with de novo dominant-negative mutation in COL6A1 gene by reprogramming dermal fibroblasts using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed pluripotency-associated markers and differentiated into the three germ layers.
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