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Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.
BMJ Case Rep
November 2024
Endocrinology, Nizam's Institute of Medical Sciences, Hyderabad, India
A toddler presented with failure to thrive and dysmorphic features since birth. On examination, she was found to have a cleft lip, syndactyly, hypopigmented patchy skin lesions and patchy alopecia. The baseline haematological evaluation was normal.
View Article and Find Full Text PDFPhenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.
Pediatr Dermatol
November 2024
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.
Article Synopsis
- Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare genetic condition affecting primarily women, linked to mutations in the PORCN gene, that impacts the skin, bones, and eyes.
- A study at Aarhus University Hospital examined four confirmed cases of FDH, revealing typical symptoms like skin atrophy, limb abnormalities, and eye issues, as well as identifying new genetic variants.
- The prevalence of FDH in Western Denmark was estimated at 1.6 cases per million, highlighting the rarity and complexity of the disorder, which necessitates comprehensive medical collaboration for effective diagnosis and care.
Focal dermal hypoplasia: The conflicting characteristics of prenatal and long-term follow-up images of skin anomalies.
J Clin Ultrasound
November 2024
Department of Fetal Medicine, Biodesign Laboratory DASA/PUC, Rio de Janeiro, RJ, Brazil.
Article Synopsis
- This case is notable for being the first known diagnosis of focal dermal hypoplasia using prenatal MRI, which is a type of medical imaging done before birth.
- There is a significant difference in the imaging findings of the skin malformation when comparing prenatal scans to postnatal (after birth) scans.
- The study emphasizes the importance of both prenatal and postnatal assessments for better understanding and managing this condition over time.
Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report.
SAGE Open Med Case Rep
August 2024
Department of Pediatrics and Child Health, College of Health Science, Mekelle University, Tigray, Ethiopia.
Article Synopsis
- - Goltz syndrome is a rare genetic condition caused by a mutation in the PORCN gene on the X chromosome, leading to skin thinning and fat herniation, which causes both skin and systemic issues.
- - A newborn with Goltz syndrome showed various abnormal symptoms, including missing one eye (anophthalmia), a cleft lip, herniated fat under the skin, and split foot, along with kidney and heart abnormalities.
- - The baby was hospitalized for treatment of neonatal sepsis, and the family was provided counseling about the syndrome's implications due to its rarity and complexity.
Prevalence rates for ectodermal dysplasia syndromes.
Am J Med Genet A
December 2024
Department of Pediatrics, University of Missouri School of Medicine, Columbia, Missouri, USA.
Article Synopsis
- * The study aims to determine the period prevalence rates for common EDs using a large database of electronic health records, which provides more comprehensive data for understanding these rare disorders.
- * Researchers calculated prevalence rates for several EDs, revealing rates like 2.99 per 100,000 for hypohidrotic ectodermal dysplasia, indicating a significant but still low occurrence of these conditions.
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