471 results match your criteria: "Focal Dermal Hypoplasia Syndrome"
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
Article Synopsis
Phenotypes, 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.
Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues.
Int J Pediatr Otorhinolaryngol
August 2024
Department of Otolaryngology-Head and Neck Surgery, Cleveland Clinic Head and Neck Institute, Cleveland, OH, USA. Electronic address:
Article Synopsis
- This study examines the link between cleft palate and cholesteatoma risk in patients with ectodermal dysplasia types (EDT-ACPs), which has not been extensively analyzed before.
- Researchers conducted an online survey involving individuals with specific disorders related to ectodermal dysplasia, achieving a low response rate of 18% with 65 participants.
- The findings reveal a significantly higher incidence of cholesteatoma (39%) in participants with a history of cleft palate compared to those without (13%), indicating a unique risk factor for those with EDT-ACPs that requires attention for early diagnosis and treatment to prevent serious complications like hearing loss.
A Long-Term Follow-Up of a Patient with a Novel Variant and Additional Clinical Features.
Mol Syndromol
June 2024
Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Article Synopsis
- Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a genetic disorder inherited in an X-linked dominant manner, affecting various body systems, especially the skin, eyes, and bones.
- An 11-year-old girl with a novel genetic variant demonstrated typical symptoms of FDH alongside new findings, including mild intellectual disability, left-side diaphragm eventration, and early onset of puberty.
- The report highlights the need for comprehensive evaluations of neurological and skeletal systems in FDH patients, while introducing previously unreported complications like diaphragm eventration and precox puberty.
Postmortem 7T MRI in Goltz-Gorlin Syndrome: Insights into fetal anomalies beyond conventional imaging techniques.
Eur J Radiol
May 2024
Departments of Radiology, The First Affiliated Hospital of Army Medical University, Chongqing, China; 7T Magnetic Resonance Translational Medical Research Center, The First Affiliated Hospital of Army Medical University, Chongqing ,China. Electronic address:
[Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form].
Dermatologie (Heidelb)
June 2024
Universitätsklinik für Dermatologie, Venerologie, Allergologie und Phlebologie, Johannes Wesling Klinikum Minden, Hans-Nolte-Str. 1, 32429, Minden, Deutschland.
Article Synopsis
- - A 29-year-old woman exhibited skin changes like red and dark streaks along her body's Blaschko lines since childhood, leading to a diagnosis of focal dermal hypoplasia in mosaic form through skin and blood DNA tests.
- - A specific mutation in the PORCN gene was found in her affected skin but not in her blood, highlighting the need for detailed genetic analysis in such cases.
- - The study emphasizes the importance of recognizing subtle skin differences for proper diagnosis and the need for a team of specialists to evaluate potential systemic issues and provide genetic counseling, especially before pregnancy.
Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.
BMJ Case Rep
February 2024
Pediatric and Preventive Dentistry, All India Institute of Medical Sciences, Delhi, New Delhi, India.
Article Synopsis
- - Goltz-Gorlin syndrome is a rare genetic disorder caused by a mutation in the PORCN gene, primarily affecting the skin and related structures with distinct patterns.
- - Key skin features include a unique line-like pattern, thinning of the skin, color changes, and small blood vessel proliferation.
- - Oral issues seen in affected individuals often involve problems with teeth development and structure, such as enamel defects, missing teeth, and unusual tooth shapes, as illustrated in a case study of a young girl with the syndrome.
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.
Children (Basel)
October 2023
Pediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria.
Article Synopsis
- The study focuses on diagnosing and characterizing ectodermal abnormalities in children, particularly those with various skin and cranial-skeletal malformations.
- Eight girls, ranging from infants to 16 years old, exhibited symptoms like cleft palates, abnormal teeth, and limb deformities, alongside notable skin lesions.
- Imaging techniques including 3D CT scans revealed significant cranial demineralization and other skeletal defects, leading to a diagnosis of Goltz syndrome, which was linked to mutations in the PORCN gene in some of the affected children.
Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome.
Front Endocrinol (Lausanne)
October 2023
Endocrinology, Diabetology and Internal Medicine Unit, Catholic University of the Sacred Heart, Rome, Italy.
Article Synopsis
- * A 16-year-old female with GGS found a suspicious thyroid nodule, which was later diagnosed as papillary thyroid carcinoma (PTC) with lymph node involvement, requiring surgery and subsequent radioiodine therapy.
- * This case is significant as it's the first reported instance of PTC in a GGS patient, raising questions about the relationship between the PORCN gene mutation and increased cancer risk in this rare syndrome.
Focal Dermal Hypoplasia.
JAMA Dermatol
September 2023
Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen, China.
Esophageal Manifestations of Dermatological Diseases, Diagnosis and Management.
Curr Treat Options Gastroenterol
December 2022
Division of Gastroenterology and Hepatology, University of Colorado School of Medicine - Anschutz Medical Campus, Denver, CO, USA.
Article Synopsis
- This article reviews the diagnosis and treatment of diseases that impact both the skin and the esophagus, highlighting the importance of specific tests like endoscopy and biopsy for accurate diagnosis.
- It discusses various treatments, primarily systemic steroids and immunosuppressants, which are effective for conditions like pemphigus and Crohn's disease, along with the need for monitoring pre-malignant conditions.
- The diseases are categorized based on their causes, including autoimmune, infectious, inflammatory, and genetic factors, and emphasizes the need to investigate skin-related issues in patients experiencing unexplained difficulty swallowing.
Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia.
Cureus
April 2023
Medicine, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, SAU.
Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare syndrome described in the literature. Patchy skin hypoplasia is the most evident sign. Hyperpigmentation, hypopigmentation, papillomas, limb defects, and orofacial manifestations have also been reported.
View Article and Find Full Text PDFFocal Dermal Hypoplasia: Case Series.
Indian J Dermatol
January 2023
Department of Genetics, Clinical Research Center, Mohammed VI University Hospital, Marrakech, Morocco.
Article Synopsis
- Focal dermal hypoplasia, or Goltz syndrome, is a rare genetic disorder affecting primarily the skin, face, skeletal structure, and eyes, with diverse and atypical manifestations.
- The study analyzed five female Moroccan patients with Goltz syndrome, noting common characteristics such as skin lesions, ocular issues, cranio-facial deformities, limb abnormalities, and variations in growth and cognitive development.
- Limitations included an inability to perform genetic testing, but the research emphasizes the importance of clinical expertise in diagnosing and understanding this unusual syndrome.
Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
Fetal Diagn Ther
July 2023
Ultrasound and Fetal Medicine Unit, Department Woman-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Article Synopsis
- Gómez-López-Hernández syndrome (GLHS) is a rare neurocutaneous condition characterized by a triad of symptoms: rhombencephalosynapsis, bilateral focal alopecia, and trigeminal anesthesia, but has a wider clinical spectrum including craniofacial and neurodevelopmental anomalies.
- A case of GLHS was diagnosed before birth, exhibiting significant features like hydrocephaly and various craniofacial anomalies, which were confirmed through autopsy after a pregnancy was terminated at 23 weeks.
- Prenatal diagnosis relies on neuroimaging and identifying associated craniofacial abnormalities since typical genetic causes haven't been found, categorizing GLHS as possible if specific features like RES and certain facial structures are present.*
A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.
Int J Dermatol
September 2023
Department of Dermatology, Peking University Shenzhen Hospital, Shenzhen, China.
Urogenital presentation of a male patient with focal dermal hypoplasia.
Pediatr Dermatol
May 2023
Department of Dermatology, Kaiser Permanente Los Angeles Medical Center, Los Angeles, California, USA.
Article Synopsis
- - Focal dermal hypoplasia (FDH) is a rare genetic condition linked to the X chromosome, marked by skin atrophy, bone issues, and vision problems.
- - A male patient with confirmed FDH was found to have hypospadias and chordee, which are abnormalities related to the male reproductive system.
- - This case introduces new clinical symptoms associated with FDH specifically in male patients, expanding the understanding of the syndrome.
Extensive blaschkoid macules and patches since birth.
JAAD Case Rep
January 2023
Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.
Goltz Syndrome Combined with Triple X Syndrome, a Case Report.
Cleft Palate Craniofac J
March 2024
Department of Pediatrics, School of Medicine, Iwate Medical University, Morioka, Japan.
Article Synopsis
- Goltz syndrome is a rare, X-linked dominant disorder characterized by skin issues such as patchy skin loss, fat herniation, pigmentation variations, and nail abnormalities, primarily affecting female newborns, while being fatal in males due to hemizygosity.
- The case presented involves a female patient with a combination of Goltz syndrome and Triple X syndrome, which is generally milder and causes few symptoms, but in this instance resulted in multiple system anomalies affecting her appearance and health.
- The patient’s skin condition was treated with conservative measures, while her facial cleft, cleft lip, palate, and syndactyly were addressed successfully through surgery, highlighting the complexities of managing both syndromes
Porcn is essential for growth and invagination of the mammalian optic cup.
Front Cell Dev Biol
October 2022
Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, United States.
Microphthalmia, anophthalmia, and coloboma (MAC) are congenital ocular malformations causing 25% of childhood blindness. The X-linked disorder Focal Dermal Hypoplasia (FDH) is frequently associated with MAC and results from mutations in , a membrane bound O-acyl transferase required for palmitoylation of Wnts to activate multiple Wnt-dependent pathways. Wnt/β-catenin signaling is suppressed in the anterior neural plate for initiation of eye formation and is subsequently required during differentiation of the retinal pigment epithelium (RPE).
View Article and Find Full Text PDFNevus lipomatosus superficialis, an unusual case report.
J Family Med Prim Care
July 2022
Department of Pathology, AIIMS, New Delhi, India.
Article Synopsis
- * It typically features clusters of mature fat cells in the dermis and can present as a swelling that progresses over time, as seen in a reported case of an 11-year-old male with a lower back swelling since birth.
- * Understanding this condition's unique characteristics is crucial for proper diagnosis and treatment, distinguishing it from other skin neoplasms while highlighting its favorable outcome.
Focal Dermal Hypoplasia with Osteopathia Striata.
Med Arch
August 2022
Department of Dermatology, Jordanian Royal Medical Services, King Husien Center. JRMS, KHMC, Amman, Jordan.
Article Synopsis
- Focal dermal hypoplasia is a genetic condition primarily affecting the skin and multiple other systems, caused by mutations in the PORCN gene and predominantly affects females.
- The article presents a case of a one-year-old girl with distinct clinical features, including skin lesions, skeletal abnormalities, developmental delays, and dental issues, all of which are characteristic of the condition.
- The conclusion emphasizes the importance of thorough examinations for early diagnosis and appropriate genetic counseling for affected individuals.