110 results match your criteria: "Congenital Patterned Leukodermas"
Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
J Med Case Rep
December 2024
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
View Article and Find Full Text PDFCrossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
Doc Ophthalmol
August 2024
Service d'Exploration de la Vision et de Neuro-Ophtalmologie, Hôpital Roger Salengro, CHU de Lille, 59000, Lille, France.
Article Synopsis
- - AHR gene defects are linked to a rare disorder characterized by infantile nystagmus and foveal hypoplasia, as demonstrated in a case study of a 6-year-old girl with a novel genetic variant.
- - Comprehensive eye examinations, including VEP and electroretinography, revealed significant visual impairments and specific patterns in the patient's visual processing.
- - Over an 11-year follow-up, the patient's visual acuity improved despite the initial diagnosis of severe ocular conditions, highlighting potential for positive outcomes in similar cases.
Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review.
Cureus
May 2024
Internal Medicine, Siddhartha Medical College, Vijayawada, IND.
Article Synopsis
- Waardenburg syndrome (WS) is a rare congenital disorder mainly inherited in an autosomal dominant manner, exhibiting incomplete penetrance and diverse clinical presentations within the same family.
- Key features include facial abnormalities, skin hypopigmentation, heterochromia iridis, and conductive deafness, with four distinct subtypes characterized by specific symptoms.
- Type 4, the rarest subtype associated with Hirschsprung disease, shows symptoms like white forelock and hearing loss, emphasizing the need for genetic counseling and awareness for proper diagnosis and management.
Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of -Associated Retinopathy-A Case Report.
Int J Mol Sci
March 2024
Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland.
Article Synopsis
- * A case study presents a 57-year-old man with a history of eye issues, which were also observed in his grandson, detailing symptoms like nystagmus and low visual acuity, along with findings from various eye examinations.
- * Genetic testing revealed a specific mutation contributing to the patient's condition, suggesting that additional unidentified factors may influence the variability of symptoms observed in AIED and related disorders, pointing to a complex
The Impact of WhatsApp as a Health Education Tool in Albinism: Interventional Study.
JMIR Dermatol
November 2023
Department of Mental Health, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria.
Article Synopsis
- Oculocutaneous albinism makes people's skin, hair, and eyes lighter because they don’t have enough melanin, and it can lead to health issues like skin cancer.
- The study tried using WhatsApp to help educate people with albinism about health topics, especially how to protect their skin from the sun.
- After the WhatsApp sessions, people learned more about albinism and skin protection, showing an increase in their overall knowledge and understanding of sunscreen use.
CHIASM-Net: Artificial Intelligence-Based Direct Identification of Chiasmal Abnormalities in Albinism.
Invest Ophthalmol Vis Sci
October 2023
Visual Processing Lab, Department of Ophthalmology, Otto-von-Guericke-University, Magdeburg, Germany.
Article Synopsis
- Albinism is a condition affecting pigmentation and visual system structure, prompting research into anatomical changes for improved diagnostics, particularly using a CNN called CHIASM-Net.
- This CNN was designed to detect malformations in the optic chiasm from MRI images, using data from a significant number of control and albinism cases, and evaluated through rigorous statistical methods.
- CHIASM-Net showed promising results with 85% accuracy and identified key areas in the optic chiasm as influential for its predictions, highlighting the potential of CNNs for visual pathway analysis in diagnostics.
Dyschromatosis universalis hereditaria.
Int J Dermatol
October 2023
Department of Dermatology, Venereology and Leprosy, Sri Manakula Vinayagar Medical College and Hospital, Pondicherry, India.
Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis, which differ in their patterns of distribution. The disease was initially described by Ichikawa and Hiraga in Germany in 1933. The prevalence of DUH is 0.
View Article and Find Full Text PDFAbnormal Retinal Vessel Architecture in Albinism and Idiopathic Infantile Nystagmus.
Invest Ophthalmol Vis Sci
May 2022
Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University Of Leicester, University Road, Leicester, LE1 7RH, United Kingdom.
Article Synopsis
- Infantile nystagmus syndrome (INS) can change how babies see and is linked to problems in the eye's blood vessels, just like in albinism.
- Scientists studied the eye images of 24 people with albinism, 10 with INS, and 34 people without these conditions to see how their retinal blood vessels differed.
- The results showed fewer and thinner blood vessels in people with albinism and INS compared to those without, possibly due to issues in the part of the eye that helps blood vessel development.
CHIASM, the human brain albinism and achiasma MRI dataset.
Sci Data
November 2021
Department of Psychology, Center for Perceptual Systems, Center for Theoretical and Computational Neuroscience, Institute for Neuroscience, The University of Texas, 108 E Dean Keeton Street, Austin, Texas, 78712, United States.
Article Synopsis
- Scientists collected special MRI pictures from people with a condition called albinism and another condition called achiasma, which affect vision.
- This collection will help researchers create and test new ways to study brain pathways and how the human visual system works in people with these conditions.
- The MRI data comes with helpful tools to analyze it and includes additional information to make studying the brain easier.
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.
Eur J Hum Genet
October 2021
UCL Great Ormond Street Institute of Child Health, UCL, 30 Guilford Street, London, WC1N 1EH, UK.
We report a patient with profound congenital hypotonia, central hypoventilation, poor visual behaviour with retinal hypopigmentation, and significantly decreased mitochondrial respiratory chain complex I activity in muscle, who died at 7 months of age having made minimal developmental progress. Biallelic predicted truncating P4HTM variants were identified following trio whole-genome sequencing, consistent with a diagnosis of hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities (HIDEA) syndrome. Very few patients with HIDEA syndrome have been reported previously and mitochondrial abnormalities were observed in three of four previous cases who had a muscle biopsy, suggesting the possibility that HIDEA syndrome represents a primary mitochondrial disorder.
View Article and Find Full Text PDFFirst observation of a chimpanzee with albinism in the wild: Social interactions and subsequent infanticide.
Am J Primatol
June 2022
Budongo Conservation Field Station, Masindi, Uganda.
Article Synopsis
- Albinism is when animals don't have normal color in their fur or skin, and it's really rare because it can make them weaker and more vulnerable.
- People and animals with albinism often struggle with things like poor eyesight and being more sensitive to sunlight.
- This text talks about the discovery of an albino baby chimpanzee in the wild and how it was treated by its mother and other chimps, and sadly, it was killed by other chimpanzees.
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmol
June 2021
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague, Czech Republic.
Article Synopsis
- ALG3-CDG is a rare disease caused by problems in the ALG3 gene, leading to severe health issues like neurological and heart problems.
- A 23-month-old girl with ALG3-CDG showed symptoms like developmental delays, seizures, and eye problems, along with some physical abnormalities from birth.
- Researchers found new genetic changes in her ALG3 gene, adding to what we know about this disease and its links to vision problems.
Identification of two novel mutations in the gene in Chinese patients with hereditary leukonychia.
Mol Med Rep
June 2021
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
Article Synopsis
- Hereditary leukonychia (HL) is a rare nail disease that can affect both fingernails and toenails in families.
- A study looked at a Chinese family and one other person with HL and found that all family members had the same nail issues and had koilonychia (spoon-shaped nails) when they were kids.
- Researchers discovered two new gene mutations related to HL, helping to show how this condition works and emphasizing the importance of genetic testing.
Altered visual population receptive fields in human albinism.
Cortex
July 2020
Institute of Child Health, University College London, London, UK.
Article Synopsis
- Albinism is a condition where people are born with different eye nerve wiring, which affects how they see things.
- Normally, the brain's left side processes images from the right side of our vision, but in albinism, this wiring is mixed up.
- A study used advanced brain scans to learn how people with albinism see and found that their brains still try to focus on certain areas, even with this unusual nerve wiring.
Micro-probing enables fine-grained mapping of neuronal populations using fMRI.
Neuroimage
April 2020
Laboratory of Experimental Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Article Synopsis
- The study talks about how scientists understand how our brains process what we see, called receptive fields (RFs), using a new method called micro-probing (MP).
- MP allows researchers to find unusual RF shapes and understand different groups of brain cells that respond to what we see, getting more detailed information than older methods.
- This new technique helped scientists study the visual fields of healthy people and those with eye disorders, showing that it can find important patterns without needing specific tests or models.
Distribution patterns of torpedo maculopathy: Further evidence of a congenital retinal nerve fiber layer-driven etiology.
Saudi J Ophthalmol
August 2019
Emory Eye Center, Emory University, Atlanta, GA, USA.
Article Synopsis
- Torpedo maculopathy is a rare eye condition with fewer than 100 documented cases globally, and its causes have been largely unknown.
- This literature review analyzed 44 previous reports along with 3 new cases, totaling 80 patients, with ages ranging from 6 months to 73 years, and found specific lesion characteristics in the temporal macula.
- The evidence suggests that torpedo maculopathy may have a congenital origin and highlights the role of retinal nerve fiber layer distribution in its development.
First record of atypical pigmentation pattern in fin whale Balaenoptera physalus in the Atlantic Ocean.
Dis Aquat Organ
August 2019
Bottlenose Dolphin Research Institute (BDRI), 36980 O Grove, Pontevedra, Spain.
Article Synopsis
- Atypical pigmentation, like having unusual colors or patterns on their skin, can affect how animals interact and can make it harder for them to survive in the wild.
- Hypopigmentation, which means a lack of color in certain parts of the body, can happen because of genetics or other reasons, and was found in a fin whale off the coast of Spain.
- This study is important because it's the first time researchers have documented and photographed a fin whale with this unusual skin condition, and it could help us understand how it impacts the whale's life.
Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children.
Pediatr Dermatol
November 2019
Division of Pediatric Dermatology, Department of Pediatrics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, Quebec, Canada.
Article Synopsis
- The study examined 106 children with cutaneous patterned hypopigmentation to analyze the clinical characteristics and any related anomalies from 2007 to 2018 at a Montreal hospital.
- The most common patterns observed were narrow bands (38.7%) and broad bands (53.8%), with a significant number of cases showing involvement of multiple body sites.
- Extracutaneous issues occurred in 28.3% of the patients, particularly neurological and developmental problems, suggesting that careful follow-up is essential for early identification of such anomalies.
Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.
Mol Biol Rep
October 2019
Clinical Genetic Center, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.
High rates of misdiagnosis and delayed intervention in neonatal PWS are leading to poor prognoses. To determine the clinical and image characteristics of newborns with Prader-Willi syndrome (PWS). A total of 102 cases of newborns definitively diagnosed with PWS at the Children's Hospital of Fudan University from 02/2014 to 12/2017 were retrospectively analyzed.
View Article and Find Full Text PDFElectroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism.
Eur J Ophthalmol
January 2020
Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Article Synopsis
- The study looked at how well the eyes of children with certain eye problems respond to light using a test called electroretinograms (ERGs).
- It included 30 kids with idiopathic infantile nystagmus, 18 with optic nerve hypoplasia, and 18 with albinism, using different testing methods based on their ages.
- The results showed that most children with these conditions had similar responses to light compared to healthy kids, but there were some differences in groups related to specific types of light responses.
[Multiple hypochromic or achromic macules in children and risk of tuberous sclerosis].
Ann Dermatol Venereol
December 2018
Service de dermatologie, CHU de Toulouse, centre de référence des maladies rares de la peau, hôpital Larrey, 24, chemin Pouvourville, 31400 Toulouse, France.
Article Synopsis
- The study looked at children with light-colored skin spots that might be linked to a disease called tuberous sclerosis (TS).
- Researchers checked 7,265 children from 2010 to 2017 and found 18 cases where the spots had no clear reason.
- They discovered that while the spots didn’t give clear clues about TS, further tests were important for getting a correct diagnosis.
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.
J Hum Genet
October 2018
USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, Hefei National Laboratory for Physical Sciences at Microscale, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China (USTC), Collaborative Innovation Center of Genetics and Development, Hefei, 230027, Anhui, China.
Article Synopsis
- * A Pakistani family was studied where the mother and five kids had these white nails, along with brittle and concave nails known as koilonychia.
- * Scientists found a specific mutation in a gene called PLCD1 that seems to cause this condition, which helps us learn more about how and why it happens.
Clinical and dermoscopic characteristics of congenital melanocytic naevi.
J Eur Acad Dermatol Venereol
October 2018
1st Department of Dermatology - Venereology, 'Andreas Sygros' University Hospital, Athens, Greece.
Article Synopsis
- The study looked at kids with congenital nevi (CN), which are unusual-shaped moles they are born with, to better understand how to take care of them.
- Researchers examined 330 CN in 276 kids aged 6 months to 14 years and found that most kids had just one CN, and some had family members with the same condition.
- The study found different patterns of CN on the skin and noted that smaller CN were the most common, while larger ones were rare, helping doctors know more about CN characteristics and how to manage them.
Predictors of Sensitivity to Perceptual Learning in Children With Infantile Nystagmus.
Invest Ophthalmol Vis Sci
August 2017
Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Cognitive Neuroscience Department, Nijmegen, The Netherlands.
Article Synopsis
- The study looks at how kids with a vision problem called infantile nystagmus can improve their ability to see letters by practicing with different setups.
- It involved two groups of kids who trained for 10 sessions over 5 weeks to see how age, type of training, and enjoyment affected their progress.
- Results showed that older kids and those who trained without distractions did better, and kids with a specific type of vision issue (idiopathic IN) learned more effectively than those with another type (albinism with IN).