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Genodermatosis

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https://www.readbyqxmd.com/read/29770900/insights-into-mutation-effect-in-three-poikiloderma-with-neutropenia-patients-by-transcript-analysis-and-disease-evolution-of-reported-patients-with-the-same-pathogenic-variants
#1
Elisa A Colombo, Nursel H Elcioglu, Claudio Graziano, Pamela Farinelli, Elisabetta Di Fede, Iria Neri, Elena Facchini, Mariangela Greco, Cristina Gervasini, Lidia Larizza
PURPOSE: Poikiloderma with neutropenia (PN) is a genodermatosis currently described in 77 patients, all presenting with early-onset poikiloderma, neutropenia, and several additional signs. Biallelic loss-of-function mutations in USB1 gene are detected in all molecularly tested patients but genotype-phenotype correlation remains elusive. Cancer predisposition is recognized among PN features and pathogenic variants found in patients who developed early in life myelodysplasia (n = 12), acute myeloid leukemia (n = 2), and squamous cell carcinoma (n = 2) should be kept into account in management and follow-up of novel patients...
May 16, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29765964/a-rare-syndrome-resembling-scleroderma-huriez-syndrome
#2
Nil Su Çelik, Şirin Yaşar, Sema Aytekin, Pembegül Güneş
Huriez syndrome, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nails. The development of aggressive squamous cell carcinoma (SCC) arising in the scleroatrophic area is also a distinctive feature of the syndrome. Early diagnosis is important due to the early onset, mostly in the third to fourth decades of life, and aggressive progress of SCC, which occurs in around 15% of affected individuals...
April 2018: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29760616/high-frequency-of-primary-hereditary-ichthyoses-in-the-north-east-region-of-cairo-egypt
#3
Nermine El-Sayed, Neveen S Seifeldin, Christine K T Gobrial
Introduction: Inherited ichthyoses are caused by mutations in various genes important for keratinocyte differentiation and epidermal barrier function. Although ichthyoses are rare disorders, they require costly long-term medical management, and thus there is a need for efficient preventive and therapeutic strategies. Aim: We performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors of primary hereditary ichthyoses in Egyptian patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University...
April 2018: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29742560/two-cases-of-chronic-candidiasis-in-keratitis-ichthyosis-deafness-syndrome
#4
Diana Bartenstein, Hye Jin Chung, Sadaf Hussain
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis that typically results from mutations of the GJB2 gene or, less commonly, the GJB6 gene. Patients with KID syndrome are at higher risk of malignancy and infections. Here, we present 2 patients with KID syndrome who developed verrucous plaques. Given that patients with KID syndrome are at high risk of developing squamous cell carcinoma, biopsies were performed. Both cases revealed histologic findings of marked papillomatous epidermal hyperplasia with numerous fungal spores and pseudohyphae in the stratum corneum...
May 3, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29719290/identification-of-a-novel-keratin-9-missense-mutation-in-a-chinese-family-with-epidermolytic-palmoplantar-keratoderma
#5
Heng Xiao, Yi Guo, Junhui Yi, Hong Xia, Hongbo Xu, Lamei Yuan, Pengzhi Hu, Zhijian Yang, Zhenghao He, Hongwei Lu, Hao Deng
BACKGROUND/AIMS: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis. It is characterized by diffuse yellow keratoses on the palmoplantar epidermis, with an erythematous border. The keratin 9 gene (KRT9) and less frequently the keratin 1 gene (KRT1) are responsible for EPPK. This study aims to identify and analyse genetic defects responsible for EPPK in a Han Chinese pedigree. METHODS: A four-generation Han Chinese pedigree containing five individuals affected with EPPK was recruited...
April 26, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29692462/a-tale-of-h-syndrome-with-typical-radiographic-findings
#6
Praneet Pradeep Awake, Lakshmi Chandravathi Penmetcha, Anil Fonseca, Prasad Prabhakar Jawalkar
H syndrome is a recently described autosomal recessive genodermatosis with cutaneous phenotypes of varying severity and multi-system involvement. Patients suffering from this disorder can be easily mistaken for sclerodermoid conditions. The radiological findings of H syndrome are typical but have been described only anecdotally. We present a case of a 29 year old male patient of H syndrome with typical radiological features.
March 2018: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/29681388/sex-matters-interfering-with-the-oxidative-stress-response-in-pachyonychia-congenita
#7
Rudolf E Leube, Nicole Schwarz
Pachyonychia congenita is an incurable and often debilitating genodermatosis. Topical application of the antioxidative response inducer sulforaphane, however, alleviates disease symptoms in a murine pachyonychia congenita model, forecasting clinical benefits. The Coulombe laboratory now reports sex-dependent differences in sulforaphane responsiveness of pachyonychia congenita mice, thereby dampening treatment expectations but also unveiling novel aspects of sex-specific oxidative stress reactivity in the epidermis...
May 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29593249/inside-out-regenerative-medicine-for-recessive-dystrophic-epidermolysis-bullosa
#8
REVIEW
Michael Vanden Oever, Kirk Twaroski, Mark J Osborn, John E Wagner, Jakub Tolar
Epidermolysis bullosa is classified as a genodermatosis, an inherited genetic skin disorder that results in severe, chronic skin blistering with painful and life-threatening complications. Although there is currently no cure for epidermolysis bullosa, concurrent advances in gene and stem cell therapies are converging toward combinatorial therapies that hold the promise of clinically meaningful and lifelong improvement. Recent studies using hematopoietic stem cells and mesenchymal stromal/stem cells to treat epidermolysis bullosa have demonstrated the potential for sustained, effective management of the most severe cases...
January 2018: Pediatric Research
https://www.readbyqxmd.com/read/29565995/mkln1-splicing-defect-in-dogs-with-lethal-acrodermatitis
#9
Anina Bauer, Vidhya Jagannathan, Sandra Högler, Barbara Richter, Neil A McEwan, Anne Thomas, Edouard Cadieu, Catherine André, Marjo K Hytönen, Hannes Lohi, Monika M Welle, Petra Roosje, Cathryn Mellersh, Margret L Casal, Tosso Leeb
Lethal acrodermatitis (LAD) is a genodermatosis with monogenic autosomal recessive inheritance in Bull Terriers and Miniature Bull Terriers. The LAD phenotype is characterized by poor growth, immune deficiency, and skin lesions, especially at the paws. Utilizing a combination of genome wide association study and haplotype analysis, we mapped the LAD locus to a critical interval of ~1.11 Mb on chromosome 14. Whole genome sequencing of an LAD affected dog revealed a splice region variant in the MKLN1 gene that was not present in 191 control genomes (chr14:5,731,405T>G or MKLN1:c...
March 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29525789/a-novel-porcn-frameshift-mutation-leading-to-focal-dermal-hypoplasia-a-case-report
#10
Ceren D Durmaz, John McGrath, Lu Liu, Halil G Karabulut
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot...
March 10, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29519993/idiopathic-multiple-eruptive-milia-report-of-a-case-in-a-nigerian-woman
#11
H Yahya
Milia are multiple, small, benign keratin-filled superficial epidermoid cysts which are classified as primary when they occur spontaneously or secondary when they result from skin trauma or disease. Multiple eruptive milia (MEM) refer to a condition characterized by a sudden eruption of a large number of milia. MEM may be familial, occur as part of a genodermatosis, or occur spontaneously when they are termed idiopathic. Idiopathic MEM are an exceedingly rare disease. We present the case of a 70-year-old Nigerian woman with idiopathic MEM...
March 2018: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29469739/cowden-syndrome-clinical-case-and-a-brief-review
#12
Sofia Lopes, Julia Vide, Elisabete Moreira, Filomena Azevedo
Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Given the suspicion, genetic study was conducted and PTEN mutation was identified...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29469711/value-of-dermoscopy-for-the-diagnosis-of-monilethrix
#13
T Baltazard, F Dhaille, G Chaby, C Lok
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis. A 2-year-old boy presented with diffuse alopecia and persistent fragile hair for several months. Clinical examination revealed alopecia with hairs broken several millimeters from the scalp. Trichoscopy revealed zones of dystrophic constriction of the hair shaft, separated at regular intervals by elliptical nodes of normal thickness, giving a "necklace" appearance...
July 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29423952/a-splice-site-variant-in-the-suv39h2-gene-in-greyhounds-with-nasal-parakeratosis
#14
A Bauer, J Nimmo, R Newman, M Brunner, M M Welle, V Jagannathan, T Leeb
Hereditary nasal parakeratosis (HNPK), described in the Labrador Retriever breed, is a monogenic autosomal recessive disorder that causes crusts and fissures on the nasal planum of otherwise healthy dogs. Our group previously showed that this genodermatosis may be caused by a missense variant located in the SUV39H2 gene encoding a histone 3 lysine 9 methyltransferase, a chromatin modifying enzyme with a potential role in keratinocyte differentiation. In the present study, we investigated a litter of Greyhounds in which six out of eight puppies were affected with parakeratotic lesions restricted to the nasal planum...
April 2018: Animal Genetics
https://www.readbyqxmd.com/read/29406601/the-keratin-16-null-phenotype-is-modestly-impacted-by-genetic-strain-background-in-mice
#15
Abigail Zieman, Pierre A Coulombe
The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16-/- mice develop oral lesions early after birth and PC-like PPK lesions as young adults...
February 6, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29393029/-birt-hogg-dub%C3%A3-syndrome-is-a-rare-but-important-cause-of-pneumothorax
#16
Laurits Frøssing, Lars Pedersen, Saher Shaker
Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis manifesting as a multisystemic disorder. The most common presentation of pulmonary involvement is spontaneous pneumothorax, and it has recently been estimated, that up to 5-10% of patients with primary spontaneous pneumothorax have underlying BHD. The purpose of this case report is to stress the paramount importance of a thorough family history in patients with spontaneous pneumothorax and to recommend, that patients with a spontaneous pneumothorax and a personal or family history of pneumothorax should be screened for BHD...
January 29, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29392821/child-syndrome-a-modified-pathogenesis-targeted-therapeutic-approach
#17
Christina Bergqvist, Bilal Abdallah, Divina-Justina Hasbani, Ossama Abbas, Abdul Ghani Kibbi, Lamiaa Hamie, Mazen Kurban, Nelly Rubeiz
Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29377094/gapo-syndrome-a-rare-genodermatosis-presenting-with-unique-features
#18
Todd N Troxell, Meghan A Piccinin, Collin M Smith, Morgan E Parsons, G Scott Drew
No abstract text is available yet for this article.
January 29, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29321362/a-novel-missense-mutation-of-adar1-gene-in-a-chinese-family-leading-to-dyschromatosis-symmetrica-hereditaria-and-literature-review
#19
Shuai-Mei Liu, Meng-Xia Ni, Ming-Chao Zhang, Pei-Ran Zhu, Qiu-Yu Wu, Wei-Jun Jiang, Jing Zhang, Wei-Wei Li, Xin-Yi Xia
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and provide genetics counselling and prenatal diagnostic testing for childbearing individuals.Mutational analysis of ADAR1 gene was performed by polymerase chain reaction (PCR) and electrophoretic separation of PCR products by 1...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29231248/slurp-1-is-mutated-in-mal-de-meleda-a-potential-molecular-signature-for-melanoma-and-a-putative-squamous-lineage-tumor-suppressor-gene
#20
Christina Bergqvist, Humam Kadara, Lamiaa Hamie, Georges Nemer, Remi Safi, Mirna Karouni, Nadine Marrouche, Ossama Abbas, Divina J Hasbani, Abdul G Kibbi, Dany Nassar, Yutaka Shimomura, Mazen Kurban
BACKGROUND: Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by palmoplantar keratoderma (PPK) with transgrediens and caused by mutations in the SLURP1 gene. Uncommonly, cutaneous tumors have been found at PPK sites in MDM patients. OBJECTIVE: To study a Middle Eastern family with MDM with both PPK and skin tumors. METHODS: We studied a Middle Eastern (Palestinian) family with clinical features of MDM and cutaneous tumors...
February 2018: International Journal of Dermatology
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