162 results match your criteria: "Loose Anagen Syndrome"
Noonan Syndrome Like with Loose Anagen-1 due to Mutation-A Report of Two Cases from India.
Indian Dermatol Online J
May 2024
Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
New Trichoscopic Findings in the Loose Anagen Hair Syndrome Setting.
Actas Dermosifiliogr
November 2024
Pathology Department, Hospital Universitario Son Espases, Majorca, Spain.
Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.
Transl Pediatr
July 2024
Department of Endocrinology, Children's Hospital of Capital Institute of Pediatrics, Beijing, China.
Article Synopsis
- Noonan syndrome (NS) and a related condition called Noonan-like syndrome with loose anagen hair (NS/LAH) are caused by changes in certain genes that affect how the body grows and develops.
- A study looked at 25 patients with these syndromes, finding that they often have short stature and unique facial features, along with other health issues like heart defects and rare conditions.
- The research also discovered that a small number of patients had an autoimmune disease called systemic lupus erythematosus (SLE), which might affect their quality of life, and they noted a rare urinary condition as well.
The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway.
Hum Mol Genet
September 2024
Department of Molecular and Cellular Biochemistry, University of Kentucky, 741 S Limestone St, Lexington, KY 40536, United States.
Article Synopsis
- Shoc2 serves as a key scaffold protein in the EGFR-mediated ERK1/2 signaling pathway, crucial for transmitting signals, but its exact mechanisms are still unclear.
- Variants of Shoc2 are associated with Noonan Syndrome with Loose anagen Hair, complicating the understanding of how these genetic changes affect Shoc2 function since it lacks known enzymatic activity.
- The study finds that while Shoc2 variants fail to fully activate ERK1/2 when EGFR is the main pathway, they enhance ERK1/2 phosphorylation when the AKT pathway is also activated, indicating a complex feedback regulation in the signaling cascade.
Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.
Pediatr Rheumatol Online J
January 2024
Division of Rheumatology, ERN RITA center, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Article Synopsis
- Childhood systemic lupus erythematosus (cSLE) is typically seen as a complex genetic autoimmune disease, but new findings suggest some cases may arise from single-gene mutations linked to RASopathies.
- The case involves a 13-year-old boy with Noonan-like syndrome who developed a rare form of monogenic lupus, confirmed by renal biopsy showing class III lupus nephritis and the presence of zebra bodies.
- This highlights a potential connection between RASopathies and monogenic lupus, with implications for understanding lupus nephritis in similar genetic contexts, as the cause of zebra bodies remains unclear and isn't linked to other known conditions.
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
ESC Heart Fail
April 2024
Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great Ormond Street Hospital, London, UK.
Article Synopsis
- - This study explored the long-term outcomes and factors that predict mortality in children under 18 with hypertrophic cardiomyopathy (HCM) associated with various RASopathy syndromes, including Noonan syndrome and others.
- - Researchers analyzed data from 149 patients over an average follow-up of about 16 years, finding that 15.43% of these children died, with survival rates differing significantly based on the specific RASopathy syndrome.
- - Key predictors of mortality and sudden cardiac death included the type of RASopathy, symptoms at diagnosis, heart failure presence, and certain heart function measurements, particularly highlighting a milder HCM type within Noonan-like syndrome that still had poorer survival rates.
Article Synopsis
- The Shoc2 scaffold protein is essential for transmitting signals in the EGFR-mediated ERK1/2 pathway, but how it regulates this process is not fully understood.
- Mutations in Shoc2 are linked to Noonan Syndrome with Loose anagen Hair, complicating the study of its function since Shoc2 lacks known enzymatic activity.
- This research found that while Shoc2 variants cannot fully activate ERK1/2 phosphorylation as effectively as wild-type Shoc2, they can enhance ERK1/2 phosphorylation when both AKT and ERK1/2 pathways are activated, indicating a complex regulatory role for Shoc2 in signaling.
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.
Am J Case Rep
November 2023
Department of Pediatric Intensive Care Unit, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China (mainland).
Article Synopsis
- A 7-year-old girl with a specific mutation in the SHOC2 gene showed symptoms like short stature, facial abnormalities, and serious blood disorders, which resulted in multiple hospitalizations and surgeries since infancy.
- The case underscores the significance of comprehensive evaluations—including physical, developmental, and genetic testing—in diagnosing RASopathies in children with distinctive features and hematological issues.
M-type phospholipase A2 receptor-associated membranous nephropathy in a patient with Noonan-like syndrome with loose anagen hair.
Pediatr Int
November 2023
Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.
Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations.
Autoimmun Rev
November 2023
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica Sacro Cuore, Rome, Italy.
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Am J Med Genet A
August 2023
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Article Synopsis
- Costello syndrome is a severe neurodevelopmental disorder linked to changes in the HRAS gene, mostly involving codons 12 and 13, leading to a consistent phenotype in affected individuals.
- This report discusses a unique subgroup from one family with a less severe form linked to a specific HRAS variant (c.176C>T p.(Ala59Gly)), which hasn't been documented before in other patients.
- The individuals exhibit mild ectodermal issues and show no major health concerns, pointing to a new, milder form of HRAS-related disorders compared to classical Costello syndrome, suggesting the need for a new classification for such cases.
Utility of Teledermatology in the Diagnosis of Loose Anagen Syndrome.
Skin Appendage Disord
March 2023
Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.
Article Synopsis
- Teledermatology improves patient care efficiency but lacks the ability to perform diagnostic tests; however, teletrichoscopy can help assess hair loss virtually.
- A patient’s diagnosis was achieved through images taken during a virtual visit using a handheld microscope, alongside images from her doctor.
- During teledermatology appointments, self-administered tests like pull tests and hair measurements, as well as mobile imaging apps, can effectively evaluate hair loss in patients.
Article Synopsis
- The text talks about a rare condition similar to Noonan syndrome, called Noonan syndrome-like with loose anagen hair (NS/LAH), which has specific features like facial similarities, short stature, and unique hair traits.
- A study was done on a 5-year-old girl from China, showing typical NS features but with normal development, and a specific gene mutation was found which might explain her condition.
- The research suggests that certain gene changes can affect growth and development differently, and treatments like growth hormone therapy may help improve height for affected individuals.
Dermatological manifestations, management, and care in RASopathies.
Am J Med Genet C Semin Med Genet
December 2022
Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.
Article Synopsis
- - RASopathies are rare genetic disorders caused by harmful mutations in genes related to the RAS/MAPK signaling pathway, which is essential for cell processes like growth and survival.
- - Key features of RASopathies include various skin lesions and syndromes such as Noonan syndrome, Costello syndrome, and neurofibromatosis (NF1), but the focus here is on lesser-known non-NF1 types.
- - Dermatological symptoms play a crucial role in diagnosing these disorders, presenting as pigmented spots and skin thickening, and while there's little link to cancer, these lesions can significantly impact patients' quality of life.
Central nervous system involvement in individuals with RASopathies.
Am J Med Genet C Semin Med Genet
December 2022
Division of Medical Genetics, Nemours Children's Hospital, Wilmington, Delaware, USA.
Article Synopsis
- * Specific RASopathies display unique CNS abnormalities, such as low-grade gliomas in Noonan syndrome, Chiari 1 malformation in Costello syndrome, and various structural anomalies in cardio-facio-cutaneous syndrome.
- * There is a need for more research into the CNS manifestations of rarer RASopathies, but it's important to view RASopathies as distinct yet related conditions that share common causes and symptoms.
Clinical overview on RASopathies.
Am J Med Genet C Semin Med Genet
December 2022
Institute of Human Genetics, University Hospital Magdeburg, Medical Faculty, Otto-von-Guericke University, Magdeburg, Germany.
Article Synopsis
- * Key disorders within this group include Noonan syndrome, Costello syndrome, and cardiofaciocutaneous syndrome, all of which exhibit similar multisystemic features.
- * The review focuses on the shared "Noonan syndrome-like" traits and discusses how recent advancements in genetics have enhanced our understanding of these conditions, leading to potential changes in their classification.
Shoc2 controls ERK1/2-driven neural crest development by balancing components of the extracellular matrix.
Dev Biol
December 2022
Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY, 40536, USA. Electronic address:
Article Synopsis
- The ERK1/2 signaling pathway is crucial for embryonic development, with the Shoc2 protein playing a key role in modulating these signals.
- Mutations in the shoc2 gene are linked to Noonan-like syndrome with loose anagen hair (NSLH), which affects tissues derived from the neural crest.
- Research using zebrafish showed that loss of Shoc2 disrupts gene expression related to neural crest development and may cause ECM turnover abnormalities observed in NSLH patients.
Case report: Identification and clinical phenotypic analysis of novel mutation of the gene in NSLH2 syndrome.
Front Behav Neurosci
September 2022
Department of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, China.
Article Synopsis
- Researchers looked at a patient with a genetic condition called Noonan syndrome with loose anagen hair-2 (NSLH2) in Yunnan Province, China, to find any genetic changes.
- They collected the patient's health information and did tests on the patient and family members, analyzing their DNA to find mutations.
- They discovered a new mutation in a specific gene of the patient, which could help understand the condition better and assist in diagnosing NSLH2 in other cases.
Uncombable hair syndrome and beyond.
Acta Dermatovenerol Alp Pannonica Adriat
June 2022
Department of Molecular Medicine, Princess Al-Jawhara Center for Molecular Medicine and Inherited Disorders, Arabian Gulf University, Manama, Kingdom of Bahrain.
Article Synopsis
- Uncombable hair syndrome is characterized by frizzy hair in childhood and can have systemic effects on the nervous system, eyes, and ears, in addition to hair issues.
- The syndrome has three subtypes linked to specific gene mutations and affects multiple aspects of hair, including texture, color, and growth, with congenital hair defects occurring in about two-thirds of identified cases.
- Systemic issues and other abnormalities, including skin, nail, and dental problems, as well as neuropsychiatric and ophthalmic conditions, are common, and genetic analysis is advised to explore the relationship between genes and symptoms.
Loose anagen hair syndrome: take a closer look!
Br J Dermatol
October 2022
Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), University Hospital Center of Tours, Tours, France.
Cutaneous T-cell lymphoma in SHOC2 mutation-associated Noonan-like syndrome with loose anagen hair.
JAAD Case Rep
June 2022
Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina.
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Eur J Pediatr
August 2022
Pediatric Genetics Unit, Department of Public Health and Pediatric Sciences, Università Degli Studi Di Torino, Turin, Italy.
Article Synopsis
- The study investigated the occurrence and characteristics of epilepsy in children and adolescents with Noonan syndrome (NS) and related conditions, focusing on patients aged 5-21 at a pediatric hospital.
- Of the 75 patients studied, 13 (17.3%) had epilepsy, with a higher prevalence in Noonan-like syndrome patients (50%) compared to those with NS (9.8%).
- The presence of epilepsy was linked to neurodevelopmental delays, cognitive impairments, and a need for educational support, but 76.9% of those with epilepsy experienced a good outcome, being seizure-free for over a year.
The psychologic impact of loose anagen syndrome and short anagen syndrome.
Pediatr Dermatol
July 2022
Dr. Phillip Frost Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.
Article Synopsis
- Loose anagen syndrome (LAS) and short anagen syndrome (SAS) are hair disorders leading to shorter hair and possible thinning.
- A survey of 163 participants from a Facebook support group revealed significant negative psychological effects, with over 44% of LAS patients and 56% of SAS patients reporting issues like anxiety and low self-esteem.
- The findings highlight that both LAS and SAS significantly affect the emotional and social well-being of both children with these conditions and their caregivers.