Greig Cephalopolysyndactyly Syndrome
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Greig Cephalopolysyndactyly Syndrome (GCPS) is a rare genetic disorder caused by mutations in the GLI3 gene. Patients have abnormalities of the skull, face and limbs including syndactyly and polydactyly. The GLI3 gene codes for a transcription factor involved in limb development and is a negative regulator of the Sonic hedgehog pathway. While two cases of GCPS presented with medulloblastomas, the association between GLI3 mutations and brain tumors is unclear.
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This case report describes a Bulgarian family with Dowling-Degos disease (DDD) caused by a mutation in the keratin 5 (KRT5) gene. The proband presented with widespread hyperpigmented macules on skin folds and extremities. Histology found elongated epidermal ridges without acantholysis. Genetic testing identified a KRT5 mutation in the proband and two affected daughters, but not the unaffected daughter. While the clinical features showed some similarities to the acantholytic variant Morbus Galli-Galli, histology and the common KRT5 mutation supported a diagnosis of DDD. This family expands the phenotype and mutational spectrum associated with DDD.
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...AnnalsofClinicalandM
Dowling-Degos Disease (DDD) is a rare reticular pigmentary disorder with an autosomal dominant inheritance. Morbus Galli-Galli is considered to be an acantholytic variant of the disease. Mutations in keratin 5 gene (KRT5) have been found in the majority of DDD patients...Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Dowling-Degos Disease (DDD) is a rare reticular pigmentary disorder with an autosomal dominant inheritance. Morbus Galli-Galli is considered to be an acantholytic variant of the disease. Mutations in keratin 5 gene (KRT5) have been found in the majority of DDD patients...
Annals of Clinical and Medical Case Reports - Acmcasereport
Annals of Clinical and Medical Case Reports :Explore captivating medical cases & treatments that have garnered public interest.
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Dowling-Degos Disease (DDD) is a rare reticular pigmentary disorder with an autosomal dominant inheritance. Morbus Galli-Galli is considered to be an acantholytic variant of the disease. Mutations in keratin 5 gene (KRT5) have been found in the majority of DDD patients...
Keratin 5 Mutation in a Bulgarian Family with Dowling - Degos Disease – A Cas...
The spectrum of retiform pigmentary disorders encompasses the
rare Dowling-Degos Disease (DDD) with its acantholytic variant Morbus Galli-Galli (MGG), Epidermolysis Bullosa Simplex
with Mottled Pigmentation (ESMP), reticulate acro pigmentation of Kitamura, dyschromatosis symmetrica hereditaria, and
Darier’s disease Muller et al. [1]. Interestingly, mutations in the
KRT5gene(encoding keratin 5) have been found to correspond
with certain clinical dyschromic phenotypes Hanneken et al. [2].
Wide spread reticulated hyper pigmentation with skin fragility;
blistering and progressive palmo-plantar hyperkeratosis has been
linked to p.Pro25Leumutation in ESMP Rugg et al. [3]. Acral reticulated hyper pigmentation, palmar pits and breaks in dermatoglyphsis the typical clinical picture of Kitamura’s reticulate acro
pigmentation, also linked to mutation in the KRT5 gene Griffiths
et al. [4]. Since 2006, the mutation c.418dupA was identified in
patients with DDD, presented with reticulated hyper pigmentation mainly in flexures, perioral pitted scars, and come do-like
papules on face and neck Betz et al
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Dowling-Degos Disease (DDD) is a rare reticular pigmentary disorder with an autosomal dominant inheritance. Morbus Galli-Galli is considered to be an acantholytic variant of the disease. Mutations in keratin 5 gene (KRT5) have been found in the majority of DDD patients...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Dowling-Degos Disease (DDD) is a rare reticular pigmentary disorder with an autosomal dominant inheritance. Morbus Galli-Galli is considered to be an acantholytic variant of the disease. Mutations in keratin 5 gene (KRT5) have been found in the majority of DDD patients...
Glioblastoma Multiforme
This document provides information about glioblastoma multiforme (GBM), the most common and aggressive type of primary brain tumor. It discusses the causes, pathophysiology, clinical features, diagnosis, treatment, and prognosis of GBM. Key points include that the exact cause is unknown but genetic factors are involved; common symptoms depend on the tumor location in the brain; diagnosis involves biopsy and imaging; treatment involves surgery, radiation, chemotherapy and newer approaches; and prognosis is generally poor with median survival of 14 months despite treatment.
LOW GRADE GLIOMA.pptx
Low-grade gliomas are slow-growing brain tumors that originate from glial cells. They account for about 20% of gliomas and 10% of primary brain tumors in adults. Key points in the management of low-grade gliomas include maximal safe surgical resection followed by radiation therapy to improve progression-free survival. Important molecular markers include IDH1/2 mutations, 1p/19q codeletion, and BRAF alterations. Close monitoring with MRI is important to detect progression or possible radiation necrosis. The goals of treatment are to prolong survival while maintaining quality of life with minimal side effects.
Pemphigus etilogy
Autoantibodies play a pathogenic role in pemphigus vulgaris by targeting desmogleins, which are adhesion proteins in desmosomes. Desmogleins compensate for each other's function, explaining why blisters form in different skin layers depending on the autoantibody. Recent evidence indicates that additional proteins are also targeted. Apoptosis may underlie acantholysis, as autoantibodies can induce apoptotic signaling pathways. Basal cell shrinkage also contributes to lesion formation in pemphigus vulgaris.
Autosomal dominant diseases
1. Autosomal dominant diseases are inherited disorders caused by mutations in a single gene located on chromosomes 1-22. An affected individual has a 50% chance of passing on the mutant allele to their offspring. Variable expression is common, even within families, due to modifier genes and environmental factors.
2. Achondroplasia is caused by mutations in the FGFR3 gene leading to dwarfism. Charcot-Marie-Tooth disease type 1A is caused by duplications in the PMP22 gene resulting in peripheral neuropathy. Huntington's disease causes chorea and dementia and is associated with CAG repeat expansions in the HTT gene.
Genetic
This document discusses human genetics and genetic disorders. It begins by noting statistics on genetic abnormalities in newborns and diseases with a genetic component. It then defines genetics, genomics, proteomics, and single nucleotide polymorphisms. The rest of the document discusses molecular bases of human disease including functional and positional cloning. It classifies human diseases and discusses mutations, Mendelian disorders, X-linked disorders, and autosomal dominant and recessive patterns of inheritance. Key points covered include definitions of genetic terms, Mendel's laws of inheritance, mechanisms of various disorders, and inheritance patterns.
Similar to Greig Cephalopolysyndactyly Syndrome (20)
A RESEARCH ON GENOMIC IMPRINTINGGenomic imprinting is the epig.docx
A RESEARCH ON GENOMIC IMPRINTINGGenomic imprinting is the epig.docx
Transcriptional signaling pathways inversely regulated in alzheimer's disease...
Transcriptional signaling pathways inversely regulated in alzheimer's disease...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Annals of Clinical and Medical Case Reports - Acmcasereport
Annals of Clinical and Medical Case Reports - Acmcasereport
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling - Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling - Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
Keratin 5 Mutation in a Bulgarian Family with Dowling – Degos Disease – A Cas...
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UiPath Test Automation using UiPath Test Suite series, part 6
Welcome to UiPath Test Automation using UiPath Test Suite series part 6. In this session, we will cover Test Automation with generative AI and Open AI.
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What will you get from this session?
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Test Automation with generative AI and Open AI.
UiPath integration with generative AI
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Large Language Model (LLM) and it’s Geospatial Applications
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A tale of scale & speed: How the US Navy is enabling software delivery from l...
Rapid and secure feature delivery is a goal across every application team and every branch of the DoD. The Navy’s DevSecOps platform, Party Barge, has achieved:
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20240605 QFM017 Machine Intelligence Reading List May 2024
Everything I found interesting about machines behaving intelligently during May 2024
みなさんこんにちはこれ何文字まで入るの？40文字以下不可とか本当に意味わからないけどこれ限界文字数書いてないからマジでやばい文字数いけるんじゃないの？えこ...
ここ3000字までしか入らないけどタイトルの方がたくさん文字入ると思います。
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How to Get CNIC Information System with Paksim Ga.pptx
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Mind map of terminologies used in context of Generative AI
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Imagine a world where software fuzzing, the process of mutating bytes in test seeds to uncover hidden and erroneous program behaviors, becomes faster and more effective. A lot depends on the initial seeds, which can significantly dictate the trajectory of a fuzzing campaign, particularly in terms of how long it takes to uncover interesting behaviour in your code. We introduce DIAR, a technique designed to speedup fuzzing campaigns by pinpointing and eliminating those uninteresting bytes in the seeds. Picture this: instead of wasting valuable resources on meaningless mutations in large, bloated seeds, DIAR removes the unnecessary bytes, streamlining the entire process.
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- These are slides of the talk given at IEEE International Conference on Software Testing Verification and Validation Workshop, ICSTW 2022.
Alt. GDG Cloud Southlake #33: Boule & Rebala: Effective AppSec in SDLC using ...
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UiPath Test Automation using UiPath Test Suite series, part 6
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みなさんこんにちはこれ何文字まで入るの？40文字以下不可とか本当に意味わからないけどこれ限界文字数書いてないからマジでやばい文字数いけるんじゃないの？えこ...
みなさんこんにちはこれ何文字まで入るの？40文字以下不可とか本当に意味わからないけどこれ限界文字数書いてないからマジでやばい文字数いけるんじゃないの？えこ...
Securing your Kubernetes cluster_ a step-by-step guide to success !
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How to Get CNIC Information System with Paksim Ga.pptx
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Alt. GDG Cloud Southlake #33: Boule & Rebala: Effective AppSec in SDLC using ...
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Greig Cephalopolysyndactyly Syndrome
- 1. Greig Cephalopolysyndactyly Syndrome Akpene Gbegnon, MS4 Department of Pathology June 5 th , 2008
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- 29. Extra Slides .