Background: Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X-linked dominant disorder, predominantly seen in females, caused by pathogenic variants in PORCN.
Methods: We characterized a case series of four genetically confirmed FDH patients (three females, one male) at Aarhus University Hospital, Denmark. We estimated the FDH prevalence from our local cohort and nationwide registry data.
Results: Three patients had characteristic dermatological findings suspicious for FDH and confirmed by targeted PORCN analysis. One patient had an atypical presentation with several malformations but only subtle skin changes and was diagnosed following trio exome-sequencing analysis. Skin atrophy with fat herniations and telangiectasias were typical cutaneous findings. Limb malformations included oligodactyly (cleft foot), syndactyly, and polydactyly. Eye abnormalities included coloboma and microphthalmos. Facial dysmorphology was defined by asymmetry, thin upper lip, and malformed ears. One patient developed a giant cell bone tumor, which is a rare feature of FDH. Dental findings included enamel hypoplasia with vertical grooving and irregular crowns. Four PORCN variants were identified, including three not previously reported in the literature.We estimated a regional point prevalence in Western Denmark of 1.6 cases per million population (95% confidence intervals (CI): 0.7-3.7 per million) and a nationwide registry-based point prevalence of 1.2 cases per million population (95% CI: 0.6-2.4 per million).
Conclusions: FDH is an extremely rare and complex multisystem disorder of variable presentation, which requires close multidisciplinary collaboration for diagnosis and patient care.
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http://dx.doi.org/10.1111/pde.15752 | DOI Listing |
J Ethnobiol Ethnomed
December 2024
Department of Geology, Mizan-Tepi University, Tepi, Ethiopia.
Background: Ethiopia is recognized as a significant center of origin for a wide variety of plant species, particularly those with medicinal properties. A substantial segment of the population across the nation depends on these therapeutic plants for their primary healthcare needs. Many communities, both rural and urban, engage in traditional medicine practices, passing down their knowledge orally from one generation to the next.
View Article and Find Full Text PDFJ Cutan Pathol
December 2024
Department of Dermatology, University of Virginia, Charlottesville, Virginia, USA.
Background: Mpox (formerly known as monkeypox), a zoonotic disease caused by Monkeypox virus (MPXV), has become an international outbreak since May 2022. Mpox often presents with a mild systemic illness and a characteristic vesiculopustular skin eruption. In addition to molecular testing, histopathology of cutaneous lesions usually shows distinctive findings, such as epidermal necrosis, balloon degeneration, papillary dermal edema, and focal dermal necrosis, which have proven helpful in the diagnosis of mpox.
View Article and Find Full Text PDFBMC Infect Dis
December 2024
Division of Inflammation and Infection, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
Background: Borrelia infection is caused by Borrelia burgdorferi sensu lato and transmitted by Ixodes ricinus ticks, a common tick-borne infection in Northern Europe. The establishment of Borrelia infection depends on transmission of the spirochetes, as well as the immune response generated in the skin after a bite. Here we aim to investigate the local immune response in the skin after a tick bite and assess the possible direct effects of Borrelia, by applying gene expression analysis of the immune response in skin exposed to Borrelia-infected and non-infected ticks, respectively.
View Article and Find Full Text PDFMaxillofac Plast Reconstr Surg
December 2024
Tanta University, Tanta, Egypt.
Background: Although more than 200 techniques have been reported for the reconstruction of the upper and lower lip defects since 1000 BC, none of them is ideal. Local flaps may result in extra skin incisions and in some cases, the surgeon may be confronted with the lack of sufficient tissues for the reconstruction of large defects. Several techniques have been described for near-total lip reconstruction.
View Article and Find Full Text PDFJ Ultrasound Med
December 2024
Department of Dermatology, Faculty of Medicine, Universidad de Chile, Santiago, Chile.
Smooth muscle hamartoma (SMH) of the skin is a cutaneous benign proliferation of mature smooth muscle. Congenital SMH (CSMH) of the skin represents the most frequent type, and to date, there are no reports on its ultrasonographic pattern. A retrospective study of the color Doppler ultrasound (US) images of six CSMH patients at high and ultra-high frequencies was performed.
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