23 results match your criteria: "Naegeli-Franceschetti-Jadassohn Syndrome"
Inherited Reticulate Pigmentary Disorders.
Genes (Basel)
June 2023
Department of Dermatology, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
Article Synopsis
- Reticulate pigmentary disorders (RPDs) are skin conditions that can be either inherited or acquired, featuring areas of hyperpigmentation or hypopigmentation.
- There are several inherited types of RPDs, with varying pigmentation patterns and additional symptoms, including DSH, DUH, and RAK primarily affecting East Asian populations, while DDD is more common in Caucasians.
- The article examines the different clinical, histological, and genetic characteristics of these inherited RPDs.
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
Br J Dermatol
October 2020
Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
Naegeli-Franceschetti-Jadassohn Syndrome: A Rare Reticulate Pigmentary Disorder.
Indian J Dermatol
January 2019
Department of Dermatology, SS Institute of Medical Sciences and Research Centre, Davanagere, Karnataka, India.
Article Synopsis
- - Naegeli-Franceschetti-Jadassohn syndrome is a rare genetic condition that affects various ectodermal structures like sweat glands, nails, teeth, and skin.
- - A case study is presented about a 16-year-old girl exhibiting symptoms such as widespread reticulate pigmentation, dental and nail abnormalities, and a lack of fingerprint patterns (dermatoglyphics).
- - The patient also experiences hypohydrosis, which means she has reduced sweating, a significant issue related to the condition.
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.
Br J Dermatol
October 2019
Department of Biomedicine, University Hospital Basel and University of Basel, Switzerland.
Naegeli-Franceschetti-Jadassohn syndrome: A rare case.
Indian Dermatol Online J
January 2016
Department of Dermatology, BJ Medical College, Civil Hospital, Ahmedabad, Gujarat, India.
Article Synopsis
- Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare genetic condition that is inherited in an autosomal dominant manner and is associated with ectodermal dysplasia due to mutations in the KRT14 gene.
- A case study is presented involving a 27-year-old male diagnosed with NFJS, who exhibited various symptoms including reticulate hyperpigmentation on the skin, dental abnormalities, and the absence of dermatoglyphics (fingerprint patterns).
- Other clinical features noted in this patient included hypohidrosis (reduced ability to sweat) and changes in hair texture or growth.
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.
J Forensic Sci
March 2014
Department of Medico Legal Medicine, Public Security, Ministry of Interior, P.O. Box 103223, Riyadh, 11695, Saudi Arabia.
Article Synopsis
- A 23-year-old Saudi man applying to be a soldier was found to have no fingerprints, prompting further medical examination of him and his family.
- Investigations revealed that he and his two brothers exhibited characteristics of Naegeli-Franceschetti-Jadassohn (NFJ) syndrome, including skin changes, hypohidrosis, and dental anomalies.
- The study aimed to document this rare genetic condition within a Saudi Arabian family and to review existing literature on NFJ syndrome.
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
Eur J Med Genet
September 2011
Department of Pediatrics, University of Torino, Torino, Italy.
Article Synopsis
- Naegeli(-Franceschetti-Jadassohn) syndrome and Dermatopathia Pigmentosa Reticularis are genetic disorders that cause skin discoloration, thickened skin on palms and soles, and other skin-related symptoms but differ in pigmentation and other traits.
- * The text discusses two patients with growth issues, developmental delays, and skin symptoms similar to these syndromes, yet they have unique traits and no mutations linked to their conditions were found.
- * Although there are similarities to Naegeli syndrome and related disorders, the patients exhibit enough differences suggesting they may represent a new, distinct condition.
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
J Invest Dermatol
June 2008
Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel.
Article Synopsis
- * The study identifies more mutations linked to NFJS and shows that these mutations lead to reduced levels of keratin 14 (K14), making skin cells more vulnerable to cell death from inflammatory signals.
- * Findings suggest that the lack of K14 contributes to increased cell death in the skin, offering insight into how NFJS develops and its connection to ectodermal dysplasia.
[Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14].
Ann Dermatol Venereol
October 2007
Service de Dermatologie, Hôpital Saint Eloi, 80, avenue Augustin Fliche, 34295 Montpellier Cedex 5.
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Am J Hum Genet
October 2006
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion-Israel Institute of Technology, Haifa, Israel.
Article Synopsis
- * A study on families with these conditions identified mutations in the KRT14 gene, which are linked to these syndromes, specifically affecting its nonhelical domain, distinct from mutations causing other skin disorders.
- * The findings indicate that KRT14 is crucial for developing skin features like fingerprints and sweat glands, and increased cell death (apoptosis) in skin cells may play a role in the disease's progression.
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
J Invest Dermatol
September 2002
Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
Article Synopsis
- Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are inherited skin disorders with characteristics like lack of fingerprints, skin discoloration, and issues with sweating.
- A study of a Swiss family helped narrow down the gene location for Naegeli-Franceschetti-Jadassohn syndrome to a smaller region on chromosome 17, suggesting a possible connection to dermatopathia pigmentosa reticularis.
- The research identified several genes within this critical region but did not find mutations in these genes that could explain the conditions, prompting further investigation into connected genetic factors.
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
J Invest Dermatol
October 2000
Department of Cell and Molecular Pathology, St John's Institute of Dermatology, The Guy's, King's College, and St Thomas' Hospitals' Medical School, London, UK.
Article Synopsis
- Naegeli-Franceschetti-Jadassohn syndrome is a rare genetic condition that affects several ectodermal structures like skin, nails, and sweat glands.
- A study of a UK family used genetic markers to find links between the syndrome and specific regions on chromosomes, especially highlighting chromosome 17q where significant linkage was found.
- Further testing excluded certain keratin genes as potential causes, narrowing down the search for the responsible gene within a specific chromosome interval.
Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism.
Am J Med Genet
August 1999
Department of Dermatology, University of Basel, Basel, Switzerland.
Article Synopsis
- Autosomal dominant inherited skin disorders can show a segmental phenotype due to genetic mosaicism, where the skin outside the affected area remains normal.
- Type 1 segmental manifestation is more common, while a second type identified by Happle shows a diffuse clinical presentation with a distinct linear pattern caused by postzygotic mutations.
- The paper presents clinical cases, including one of Naegeli-Franceschetti-Jadassohn syndrome, to illustrate these segmental manifestations and the varying effects of genetic mutations in the mother and child.
Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders.
Dermatology
December 1998
Department of Dermatology, University of Basel, and Abteilung für Dermatologie, Kantonsspital Aarau, Switzerland.
Article Synopsis
- Reticulate pigmentation of the neck is a common symptom in various inherited skin disorders (genodermatoses) and some acquired diseases, making the neck a key area for diagnosis.
- Specific syndromes linked to this pigmentation include Naegeli-Franceschetti-Jadassohn syndrome, dermatopathia pigmentosa reticularis, and dyskeratosis congenita.
- The review provides a comprehensive checklist for clinicians to identify genodermatoses associated with reticulate and mottled pigmentation on the neck, expanding beyond those that typically affect it.
Reticulate hyperpigmentation.
Semin Cutan Med Surg
March 1997
Department of Pediatrics, Children's Regional Hospital, Cooper and Hospital/University Medical Center, Camden, NJ 08103, USA.
Article Synopsis
- The text reviews disorders marked by a reticulate pattern of skin pigmentation, focusing on Dyskeratosis congenita (DKC) as a key example, which also involves issues like bone marrow dysfunction and an increased risk of cancer.
- DKC typically follows an X-linked inheritance pattern, with varying symptoms in female carriers due to random X-inactivation.
- Other related disorders are mentioned, including Naegeli-Franceschetti-Jadassohn syndrome and Dowling-Degos disease, highlighting the challenges in diagnosis, treatment, and understanding their genetic basis.
Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity?
Clin Exp Dermatol
July 1995
Department of Skin and Venereal Diseases, University of Ioannina, Greece.
Article Synopsis
- * The woman has family history, with her father and grandfather also showing similar symptoms, indicating a hereditary aspect to the condition.
- * The case suggests a variant of Naegeli-Franceschetti-Jadassohn syndrome due to specific symptoms like milia formation, and the text also explores how it differs from other similar congenital skin disorders.
Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome?
Int J Dermatol
January 1995
Department of Dermatology, Oita Medical University, Japan.
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.
J Am Acad Dermatol
June 1993
Department of Dermatology, University of Basel, Switzerland.
Article Synopsis
- The Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare genetic condition with only three documented families and the goal of this study was to understand its natural history and clinical features.
- After 65 years since its first description, researchers examined the original family and found 62 family members, including 14 affected individuals, and tracked the progression of symptoms over time.
- Key findings included fading pigmentation after puberty, persistent issues with sweating, severe dental problems, lack of fingerprint patterns, skin conditions, and some previously unreported toenail malformations in affected patients.