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Ichthyosis

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https://www.readbyqxmd.com/read/28915122/understanding-fetal-factors-that-contribute-to-preterm-birth-sj%C3%A3-gren-larsson-syndrome-as-a-model
#1
Pippa Staps, Marije Hogeveen, Joris Fuijkschot, Joris van Drongelen, Michèl A A P Willemsen
AIM: Preterm birth is the world's leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm. METHODS: Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease...
September 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28913623/updated-strategies-for-the-management-pathogenesis-and-molecular-genetics-of-different-forms-of-ichthyosis-syndromes-with-prominent-hair-abnormalities
#2
REVIEW
Madiha Rasheed, Shaheen Shahzad, Afifa Zaeem, Imran Afzal, Asma Gul, Sumbal Khalid
Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features...
September 14, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28913151/harlequin-ichthyosis-a-rare-case
#3
Belide Shruthi, B R Nilgar, Anita Dalal, Nehaben Limbani
Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare case.
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28902080/cutaneous-melanoma-in-association-with-ichthyosis-vulgaris
#4
(no author information available yet)
No abstract text is available yet for this article.
September 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28899689/enhanced-expression-of-genes-related-to-xenobiotic-metabolism-in-the-skin-of-patients-with-atopic-dermatitis-but-not-with-ichthyosis-vulgaris
#5
Stefan Blunder, Sulev Kõks, Gea Kõks, Ene Reimann, Hubert Hackl, Robert Gruber, Verena Moosbrugger-Martinz, Matthias Schmuth, Sandrine Dubrac
Previous transcriptome analyses underscored the importance of immunological and skin barrier abnormalities in atopic dermatitis (AD). We sought to identify novel pathogenic pathways involved in AD by comparing the transcriptomes of AD patients stratified for filaggrin (FLG) null mutations to those of both healthy donors and patients with ichthyosis vulgaris (IV). We applied RNA-sequencing to analyze the whole transcriptome of nonlesional skin. Six-hundred and seven genes (476 up-regulated and 131 down-regulated by greater than 2-fold) and one-hundred and ninety-three genes (172 up-regulated and 21 down-regulated by greater than 2-fold) were differentially expressed when all AD or IV patients were compared to healthy donors, respectively...
September 9, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28884032/neurological-manifestations-of-x-linked-ichthyosis-case-report-and-review-of-the-literature
#6
William S Baek, Umut Aypar
A 5-year-old boy presented with mild autism and attention-deficit hyperactivity disorder (ADHD). Chromosomal microarray demonstrated a 1.7 Mb deletion at Xp22.31, which was consistent with X-linked ichthyosis (XLI). Further exam revealed dry, scaly skin on his abdomen and pretibial areas. Patients with mutations involving solely the STS gene or the recurrent ~2 Mb deletion may present with ADHD, whereas those with larger deletions including the NLGN4 gene can present with both ADHD and autism. However, our patient presented with mild autism in addition to ADHD despite having only the recurrent deletion without loss of NLGN4...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28875980/autosomal-recessive-congenital-ichthyosis-cers3-mutations-identified-by-a-next-generation-sequencing-panel-targeting-ichthyosis-genes
#7
Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamidreza Mahmoudi, Maryam Daneshpazhooh, Nessa Aghazadeh, Rebecca Adams, Alireza Ghanadan, Sirous Zeinali, Paolo Fortina, Jouni Uitto
There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. Mutations in some of these genes, such as CERS3 with only two previous reports, are rare. In this study, we identified mutations in candidate genes in consanguineous families with ARCI with a next generation sequencing (NGS) array that incorporates 38 ichthyosis associated genes. We applied this sequencing array to DNA from 140 ichthyosis families with high prevalence of consanguinity...
September 6, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28839390/ichthyosis-follicularis-alopecia-and-photophobia-syndrome
#8
Sunder Nagakeerthana, Murugaiyan Rangaraj, Kaliaperumal Karthikeyan
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare genetic, oculocutaneous disorder. So far, about forty patients have been reported worldwide. This disorder results from mutations in the membrane-bound transcription factor protease site 2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. We report this rare case of IFAP with atypical presentation and it was interesting to note that alopecia in this child was confined to eyebrows; this unique presentation has not been described earlier...
April 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28833017/expanding-mutation-landscape-and-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis
#9
J Uitto, L Youssefian, H Vahidnezhad
No abstract text is available yet for this article.
August 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28827091/critical-roles-for-%C3%AE-%C3%AE-hydrolase-domain-5-abhd5-comparative-gene-identification-58-cgi-58-at-the-lipid-droplet-interface-and-beyond
#10
REVIEW
Amanda L Brown, J Mark Brown
Mutations in the gene encoding comparative gene identification 58 (CGI-58), also known as α β hydrolase domain-containing 5 (ABHD5), cause neutral lipid storage disorder with ichthyosis (NLSDI). This inborn error in metabolism is characterized by ectopic accumulation of triacylglycerols (TAG) within cytoplasmic lipid droplets in multiple cell types. Studies over the past decade have clearly demonstrated that CGI-58 is a potent regulator of TAG hydrolysis in the disease-relevant cell types. However, despite the reproducible genetic link between CGI-58 mutations and TAG storage, the molecular mechanisms by which CGI-58 regulates TAG hydrolysis are still incompletely understood...
August 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28816422/dolichol-kinase-deficiency-dolk-cdg-two-new-cases-and-expansion-of-phenotype
#11
Eric T Rush, Craig V Baker, William B Rizzo
Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815772/ectropion-improvement-with-topical-tazarotene-in-children-with-lamellar-ichthyosis
#12
Brooke Hanson, Lauren Becker, Kristen Hook, Ingrid Polcari, Raymond G Areaux, Sheilagh Maguiness
BACKGROUND/OBJECTIVES: Lamellar ichthyosis (LI) is a well-described phenotypic subtype of autosomal recessive congenital ichthyosis (ARCI). The condition typically presents at birth with collodion membrane and leads to thick, plate-like scaling of the skin throughout the body, alopecia, and prominent ocular manifestations. Ocular complications include bilateral cicatricial ectropion and lagophthalmos. These ocular complications can lead to chronic exposure keratitis and in some cases corneal ulceration and blindness...
August 17, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28815464/inherited-nonsyndromic-ichthyoses-an-update-on-pathophysiology-diagnosis-and-treatment
#13
REVIEW
Anders Vahlquist, Judith Fischer, Hans Törmä
Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis, but to some extent also occur in the common type of non-congenital ichthyosis...
August 16, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28806844/-treatment-of-morbus-hodgkin-in-a-child-with-congenital-lamellar-ichthyosis
#14
Julius Ketzer, Melchior Lauten, Thorsten Langer, Martin Demmert, Franziska Ernst, Caroline Stille, Anne-Marie Till
No abstract text is available yet for this article.
August 14, 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28782451/ichthyosis-fetalis-in-polled-hereford-and-shorthorn-calves
#15
Brendon A O'Rourke, Jillian Kelly, Zoe B Spiers, Patrick L Shearer, Naomi S Porter, Pietro Parma, Maria Longeri
Inherited forms of ichthyosis, or generalized scaling of the skin, have been reported in many animal species, including cattle, and are characterized by an autosomal recessive mode of inheritance. We investigated 2 calves affected with ichthyosis fetalis, a Polled Hereford and a Shorthorn. Both cases had hard white plaques on the skin consistent with excessive keratinization. This was confirmed by histopathology, which showed severe diffuse epidermal and follicular orthokeratotic hyperkeratosis. The known mutation (H1935R) in gene ABCA12, responsible for ichthyosis fetalis in Chianina cattle, was shown to be absent in both affected calves and their obligate heterozygous parents...
August 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28774589/biallelic-mutations-in-kdsr-disrupt-ceramide-synthesis-and-result-in-a-spectrum-of-keratinization-disorders-associated-with-thrombocytopenia
#16
Takuya Takeichi, Antonio Torrelo, John Y W Lee, Yusuke Ohno, María Luisa Lozano, Akio Kihara, Lu Liu, Yuka Yasuda, Junko Ishikawa, Takatoshi Murase, Ana Belén Rodrigo, Pablo Fernández-Crehuet, Yoichiro Toi, Jemima Mellerio, José Rivera, Vicente Vicente, David P Kelsell, Yutaka Nishimura, Yusuke Okuno, Daiei Kojima, Yasushi Ogawa, Kazumitsu Sugiura, Michael A Simpson, W H Irwin McLean, Masashi Akiyama, John A McGrath
Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms and soles as well as anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin...
July 31, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28771254/multiplex-epithelium-dysfunction-due-to-cldn10-mutation-the-helix-syndrome
#17
Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, Rachid C Maroun, Marie-Lucile Figueres, Stéphanie Leclerc-Mercier, Eric Olinger, Stéphanie Baron, Catherine Chaussain, Dominique Nochy, Rowaida Z Taha, Bertrand Knebelmann, Vandana Joshi, Patrick A Curmi, Marios Kambouris, Rosa Vargas-Poussou, Christine Bodemer, Olivier Devuyst, Pascal Houillier Md PhD, Hatem El-Shanti
PurposeWe aimed to identify the genetic cause to a clinical syndrome encompassing hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX syndrome), and to comprehensively delineate the phenotype.MethodsWe performed homozygosity mapping, whole-genome sequencing, gene sequencing, expression studies, functional tests, protein bioinformatics, and histological characterization in two unrelated families with HELIX syndrome.ResultsWe identified biallelic missense mutations (c...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28764184/ichthyosis-uteri-associated-with-endometrial-adenocarcinoma-a-case-report
#18
Nishu Bhardwaj, Preeti Diwaker, Priyanka Gogoi, Neelam Wadhwa, Kiran Mishra
The replacement of the entire or extensive parts of endometrial lining by stratified squamous epithelium is a rare entity known as ichthyosis uteri. It is considered to be a benign condition but may be associated with dysplastic changes and primary squamous cell carcinoma of the endometrium. Its association with endometrial adenocarcinoma is very rare. The aetiology of this condition is not clearly understood till date. We report a case of ichthyosis uteri associated with endometrial adenocarcinoma in a 70-year-old female who presented with complaint of per-vaginal bleeding for six months and underwent hysterectomy after being diagnosed with endometrial carcinoma...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28747283/a-case-of-lamellar-ichthyosis-due-to-a-novel-tgm1-mutation-associated-with-parkinson-s-disease
#19
Runa Morita-Adachi, Takuya Takeichi, Yusuke Okuno, Shinsuke Kataoka, Shimpei Hoshino, Masashi Akiyama
No abstract text is available yet for this article.
July 27, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28730607/concurrent-chondrodysplasia-punctata-type-2-conradi-hunermann-happle-syndrome-and-ichthyosis-vulgaris-in-teenaged-twin-girls
#20
Haneol S Jeong, Tara Funari, Katherine Gordon, Gabriele Richard, Nnenna G Agim
We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c...
July 21, 2017: Pediatric Dermatology
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