Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318042 | PMC |
http://dx.doi.org/10.4103/0019-5154.147876 | DOI Listing |
Bioorg Chem
January 2025
Department of In Vitro Carcinogenesis and Cellular Chemotherapy, Chittaranjan National Cancer Institute, 37, S. P. Mukherjee Road, Kolkata 700026, India. Electronic address:
Histone deacetylases (HDACs) play a critical role in chromatin remodelling and modulating the activity of various histone proteins. Aberrant HDAC functions has been related to the progression of breast cancer (BC), making HDAC inhibitors (HDACi) promising small-molecule therapeutics for its treatment. Hydroxamic acid (HA) is a significant pharmacophore due to its strong metal-chelating ability, HDAC inhibition properties, MMP inhibition abilities, and more.
View Article and Find Full Text PDFOsteoporos Int
January 2025
Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), Barcelona, Spain.
A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.
View Article and Find Full Text PDFJ Cosmet Dermatol
January 2025
Human Dermatology Clinic, Incheon, Republic of Korea.
Background: Intradermal injection of CPM-HA20G, a low-viscoelasticity hyaluronic acid (HA) dermal filler with glycerol, has been shown to be effective for facial rejuvenation in Caucasians, but research in Asians is limited.
Aims: This study aimed to evaluate the effectiveness and safety of CPM-HA20G in enhancing facial skin quality in Korean women using a protocol developed by local aesthetic experts.
Patients/methods: In this 24-week prospective, single-arm, open-label study, 20 women received CPM-HA20G injections in the immediate subdermal layer on the anterior cheek (1 mL per side; total 2 mL) in three sessions every 4 weeks.
Clin Genet
January 2025
Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.
View Article and Find Full Text PDFArch Dermatol Res
January 2025
Dermatology and Venereology Department, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt.
Morphea is a chronic inflammatory fibrosing disorder. Since fibrosis is the hallmark of both scars and morphea, our attention was raised for the possible use of Fractional Ablative CO lasers and microneedling as treatment modalities for morphea. To compare the efficacy and safety of Fractional Ablative CO lasers and microneedling in the treatment of morphea.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!