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Genodermatosis

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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
#1
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
#2
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...
December 12, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29224249/pili-annulati-in-a-case-of-rothmund-thomson-syndrome-with-a-novel-frameshift-mutation-in-recql4
#3
B Bhoyrul, H Lindsay, R Robinson, J Stahlschmidt, T Palmer, S Edward, S M Clark
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterised by erythematous patches or plaques and sometimes swelling and blisters, which appear during infancy on photo-exposed sites, usually the cheeks, then progress to poikiloderma. Other features include gastrointestinal disturbance, short stature, sparse scalp hair/eyebrows/eyelashes, skeletal abnormalities, juvenile cataracts, hypogonadism and a susceptibility to malignancy. Two forms have been described: Type I, characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, negative for the RECQL4 mutation, and Type II, with poikiloderma, congenital bone defects and increased risk of osteosarcoma related to deleterious RECQL4 mutations...
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29208193/-epidermolysis-bullosa
#4
Camilla Firing, Anette Bygum
Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion. Clinical manifestations vary in severity and character according to subtype. The severity ranges from mild localized to life-threatening. Available treatment is mainly symptomatic with therapeutic treatment in an experimental stage...
November 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29197078/cardiopulmonary-anomalies-in-incontinentia-pigmenti-patients
#5
Giuliana Onnis, Andrea Diociaiuti, Paola Zangari, Patrizia D'Argenio, Caterina Cancrini, Lorenzo Iughetti, May El Hachem
BACKGROUND: Incontinentia pigmenti (IP) is a rare inherited genodermatosis that usually involves the skin, and also teeth, oral cavity, central nervous system, eyes, blood with eosinophilia, and rarely skeletal system, breast, heart, and lungs. Skin lesions usually appear early, at birth or within the first 2 weeks of life, with four different phases tending to follow Blaschko lines that may overlap. CASE REPORT: We report a rare case of a neonate with transient reversible pulmonary hypertension that presented at day 9 of life...
December 2, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29189375/h-syndrome-a-rare-genodermatosis-imaged-with-18f-fdg-pet-ct
#6
Sophie Turpin, Natalie Patey, Marianne Beaudin, Grant Mitchell, Raymond Lambert
H syndrome (OMIM 612391) is an extremely rare autosomal recessive genodermatosis, characterized by extensive skin infiltration. We report a case imaged with F-FDG PET/CT.
January 2018: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29186264/do-you-know-this-syndrome-clouston-syndrome
#7
Sarah Sanches, Priscila Regina Orso Rebellato, Andréa Buosi Fabre, Giovana Liz Marioto de Campos
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings...
May 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29186243/familial-progressive-hyper-and-hypopigmentation-a-report-on-a-chinese-family-and-evidence-for-genetic-heterogeneity
#8
Fang Xiao-Kai, He Yue-Xi, Li Yan-Jia, Chen Li-Rong, Wang He-Peng, Sun Qing
BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. OBJECTIVES: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. METHODS: Histopathological and immunohistochemical analysis of lesions from the proband was performed...
May 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29130490/sequence-variants-in-nine-different-genes-underlying-rare-skin-disorders-in-10-consanguineous-families
#9
Khadim Shah, Sabba Mehmood, Abid Jan, Izoduwa Abbe, Raja Hussain Ali, Anwar Khan, Muhammad S Chishti, Kwanghyuk Lee, Farooq Ahmad, Muhammad Ansar, Shaheen Shahzad, Deborah A Nickerson, Michael J Bamshad, Paul J Coucke, Regie L P Santos-Cortez, Richard A Spritz, Suzanne M Leal, Wasim Ahmad
BACKGROUND: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. METHODS: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. RESULTS: Exome sequencing identified seven homozygous sequence variants in different families, including: c...
December 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29118470/diagnostic-utility-and-pitfalls-of-tzanck-smear-cytology-in-diagnosis-of-various-cutaneous-lesions
#10
Hemlata Panwar, Deepti Joshi, Garima Goel, Dinesh Asati, Kaushik Majumdar, Neelkamal Kapoor
Aims: Tzanck smear is an old but useful test for diagnosis of cutaneous dermatoses. The aim of this study was to highlight the potential usefulness and diagnostic pitfalls of Tzanck smear for diagnosis of cutaneous dermatoses and infections. Materials and Methods: This hospital based cross-sectional study was carried out on all Tzanck smears received for a period of twenty months (January 2014-August 2015). The smears were assessed to establish the utility of Tzanck smears in corroborating or excluding a diagnosis of immunobullous lesion or herpetic infection...
October 2017: Journal of Cytology
https://www.readbyqxmd.com/read/29080320/ultrastructure-of-acrokeratoelastoidosis
#11
J Lopes, H L de Almeida, R Rheingantz da Cunha Filho, B Viganó Lattman, L A Suíta de Castro
Acrokeratoelastoidosis (AKE) is a genodermatosis characterized by small, firm papules or plaques on the sides of the hands and feet (1) , it was first described in 1953 by Costa, in a Brazilian patient. It is a rare disease, both autosomal dominant and sporadic forms have been observed (2) . It is characterized by multiple hyperkeratotic papules on the palms, soles, and dorsum of the hands and feet. This article is protected by copyright. All rights reserved.
October 28, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29024216/acrochordons-on-the-neck-a-remarkable-clinical-feature-of-tuberous-sclerosis-showing-different-patterns
#12
C Baykal
Sachs and Lipsker(1) recently published a few patients diagnosed with tuberous sclerosis (TS) presenting with multiple loosely arranged acrochordons (molluscum pendulum) located on the posterior neck showing a lace-like distribution and they proposed the term "molluscum pendulum necklace sign" for these typically located lesions. They detected acrochordons in five cases (17%) in a retrospectively analysed consecutive series of 29 TS patients, of whom four (three adults and one child) remarkably showed this typical pattern...
October 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28979623/-piebaldisme-a-rare-genodermatosis
#13
Fatima Zahra Debbarh, Fatima Zahra Mernissi
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28964717/enpp1-mutation-causes-recessive-cole-disease-by-altering-melanogenesis
#14
Marwa Chourabi, Mei Shan Liew, Shawn Lim, Dorra H'mida-Ben Brahim, Lobna Boussofara, Liang Dai, Pui Mun Wong, Jia Nee Foo, Badreddine Sriha, Kim Samirah Robinson, Simon Denil, John Ea Common, Ons Mamaï, Youcef Ben Khalifa, Mathieu Bollen, Jianjun Liu, Mohamed Denguezli, Carine Bonnard, Ali Saad, Bruno Reversade
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study we investigated eight patients affected with an overlapping genodermatosis following recessive inheritance. The patients presented with hypo- and hyper-pigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients...
September 27, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28944608/coexistence-of-mutations-in-keratin-10-krt10-and-the-mitochondrial-genome-in-a-patient-with-ichthyosis-with-confetti-and-leber-s-hereditary-optic-neuropathy
#15
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gergont, Joanna Kosinska, Ewa Pronicka, Pawel Kowalski, Katarzyna Wozniak, Rafal Ploski
Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28935411/-an-atypical-case-of-lipoid-proteinosis
#16
Xavier Grimaux, Rida El Ayoubi, Magalie Rabin, Ludovic Martin, Dominique Bonneau, Frédérique Bouyx, Emmanuelle Blanchard, Anne Croue, Quentin Breton
The lipoid proteinosis is a rare autosomic recessive genodermatosis characterized histologically by deposits of hyaline-like eosinophilic material of characteristic distribution. We herein report the case of a 56-year-old man admitted for progressive aggravated dementia associated with a late-onset dysphonia. Histologic examination of cutaneous and laryngeal biopsies showed deposits of an amorphous and eosinophilic material arranged around vessels, and adnexal structures, stained by PAS and congo red negative...
September 18, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28932054/darier-disease-a-rare-genodermatosis
#17
Hema Suryawanshi, Akshay Dhobley, Aparna Sharma, Pramod Kumar
Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas on the head, neck and thorax, with less frequent involvement of the oral mucosa. When oral manifestations are present, they primarily affect the palatal and alveolar mucosa, are usually asymptomatic and are discovered in routine dental examination...
May 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/28918778/-monilethrix-is-a-hereditary-hair-shaft-disorder
#18
Andreas Ole Kirkegaard, Regina C Betz, Anette Bygum
Monilethrix is a rare genodermatosis with high penetrance and variable expressivity. This is a case report of a Danish family with varying phenotypical presentations. The family members were diagnosed using dermatoscopy and microscopy, which were subsequently supported by gene sequence analysis. No cure of monilethrix exists, but a single case report shows promising results using low dosage of oral minoxidil. Reducing hair dressing trauma to diminish weathering remains the best prophylaxis.
September 11, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28884927/peeling-skin-syndrome-associated-with-novel-variant-in-flg2-gene
#19
Ahmed Alfares, Sultan Al-Khenaizan, Fuad Al Mutairi
Peeling skin syndrome is a rare genodermatosis characterized by variably pruritic superficial generalized peeling of the skin with several genes involved until now little is known about the association between FLG2 and peeling skin syndrome. We describe multiple family members from a consanguineous Saudi family with peeling skin syndrome. Next Generation Sequencing identifies a cosegregating novel variant in FLG2 c.632C>G (p.Ser211*) as a likely etiology in this family. Here, we reported on the clinical manifestation of homozygous loss of function variant in FLG2 as a disease-causing gene for peeling skin syndrome and expand the dermatology findings...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28869610/mutations-in-actrt1-and-its-enhancer-rna-elements-lead-to-aberrant-activation-of-hedgehog-signaling-in-inherited-and-sporadic-basal-cell-carcinomas
#20
Elodie Bal, Hyun-Sook Park, Zakia Belaid-Choucair, Hülya Kayserili, Magali Naville, Marine Madrange, Elena Chiticariu, Smail Hadj-Rabia, Nicolas Cagnard, Francois Kuonen, Daniel Bachmann, Marcel Huber, Cindy Le Gall, Francine Côté, Sylvain Hanein, Rasim Özgür Rosti, Ayca Dilruba Aslanger, Quinten Waisfisz, Christine Bodemer, Olivier Hermine, Fanny Morice-Picard, Bruno Labeille, Frédéric Caux, Juliette Mazereeuw-Hautier, Nicole Philip, Nicolas Levy, Alain Taieb, Marie-Françoise Avril, Denis J Headon, Gabor Gyapay, Thierry Magnaldo, Sylvie Fraitag, Hugues Roest Crollius, Pierre Vabres, Daniel Hohl, Arnold Munnich, Asma Smahi
Basal cell carcinoma (BCC), the most common human cancer, results from aberrant activation of the Hedgehog signaling pathway. Although most cases of BCC are sporadic, some forms are inherited, such as Bazex-Dupré-Christol syndrome (BDCS)-a cancer-prone genodermatosis with an X-linked, dominant inheritance pattern. We have identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 (ARP-T1), in two of the six families with BDCS that were examined in this study. High-throughput sequencing in the four remaining families identified germline mutations in noncoding sequences surrounding ACTRT1...
October 2017: Nature Medicine
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