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Genodermatosis

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https://www.readbyqxmd.com/read/28543715/a-novel-nonframeshift-deletion-in-mvk-gene-responsible-for-disseminated-superficial-actinic-porokeratosis-in-one-chinese-family
#1
Chang-Xing Li, Si-Long Sun, Jing-Yao Liang, Yao-Qin Yuan, San-Quan Zhang, Ping-Jiao Chen, Kang Zeng, Xue-Feng Xie, Xi-Bao Zhang
Disseminated superficial actinic porokeratosis (DSAP), a genodermatosis transmitted as an autosomal dominant trait featuring disorder of keratinization, is characterized clinically by annular plaques with an atropic center and hyperkeratotic edges.(1-4) Recently, Zhang et al. (2) reported MVK mutations in 33% familiar and 16% sporadic patients with DSAP by exome sequencing. Here, we report a single novel mutation of MVK, p.Cys161_Arg176del, in a Chinese family suffering from DSAP. This article is protected by copyright...
May 23, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28543709/acral-plexiform-palisaded-encapsulated-neuromas-as-the-initial-cutaneous-manifestation-of-cowden-syndrome
#2
Elizabeth Harris, Adnan Mir
Cowden syndrome (CS) is an autosomal dominant genodermatosis associated with characteristic mucocutaneous findings of facial trichilemmomas, palmoplantar keratoses, sclerotic fibromas, and oral papillomas. Mucocutaneous neuromas have also been reported in association with CS. We describe a patient with CS whose sole cutaneous finding was palisaded encapsulated neuromas (PENs) with a plexiform growth pattern in an acral location. Along with previous reports, this case suggests that acral plexiform PENs may be an early, highly specific finding in CS and highlights the importance of screening these patients for PTEN mutation...
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28539984/birt-hogg-dub%C3%A3-syndrome-report-of-two-cases-with-two-new-mutations
#3
Margarida Rato, Ana Filipe Monteiro, Joana Parente, João Aranha, Ermelindo Tavares
INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by cutaneous fibrofolliculomas and/or trichodiscomas, lung cysts, spontaneous pneumothorax and renal tumors. However, its clinical expression is highly variable. This syndrome is caused by germline mutations in the folliculin gene (FLCN) on chromosome 17p11.2. MAIN OBSERVATIONS: Two men, 60 and 39-year-old, presented with a several year history of asymptomatic whitish papules scattered over the face and neck...
March 31, 2017: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28537014/usefulness-of-pet-ct-for-early-detection-of-internal-malignancies-in-patients-with-muir-torre-syndrome-report-of-two-cases
#4
Yui Ishiguro, Shigenori Homma, Tadashi Yoshida, Yosuke Ohno, Nobuki Ichikawa, Hideki Kawamura, Hiroo Hata, Satoru Kase, Susumu Ishida, Hiromi Okada-Kanno, Kanako C Hatanaka, Akinobu Taketomi
BACKGROUND: Muir-Torre syndrome (MTS) is a rare autosomal dominant genodermatosis caused by mutations in mismatch repair genes. It is characterized by the presence of at least one sebaceous skin tumor associated with internal malignancies. Whether positron emission tomography/computed tomography (PET/CT) is useful for the detection of malignancies in patients with MTS has not been determined. We herein report two cases in which PET/CT was useful for the diagnosis and follow-up of internal malignancies in patients with MTS...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28502110/a-novel-frameshift-mutation-of-the-adar1-gene-in-a-chinese-patient-with-dyschromatosis-symmetrica-hereditaria-and-the-dermoscopic-features
#5
Cheng Chi, Yixin Luo, Jie Liu
Dyschromatosis symmetrica hereditaria (DSH), which characterized by hyper- or hypopigmented macules on the dorsal aspect of distal extremities and freckle-like macules on the face, is a rare pigmented genodermatosis that usually restricted to the skin. Generally, DSH is considered autosomal dominant, and adenosine deaminase acting on the RNA-1 (ADAR1) gene is one of the responsible genes [1]. ADAR catalyses adenosine-to-inosine (A-to-I) editing of dsRNA substrates, which plays an important role in posttranscriptional regulatory processes...
May 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28502085/pathogenicity-of-adar1-mutation-in-a-chinese-family-with-dyschromatosis-symmetrica-hereditaria
#6
S-D Zhang, S-J Feng, K Nh-Tseung, J-J Zhao
Dyschromatosis symmetrica hereditaria (DSH, OMIM 127400) is a rare pigmentary genodermatosis with an autosomal dominant mode of inheritance that is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal regions of the extremities and freckle-like macules on the face. ADAR1 is the corresponding causal gene of DSH.(1) Here, we report a novel heterozygous mutation in the ADAR1 gene in a Chinese family with DSH that may potentially be responsible for the observed clinical presentations, which differ from those previously described...
May 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28496371/dyschromatosis-symmetrica-hereditaria-with-cutaneous-lupus-erythematosus-and-hyperthyroidism
#7
Fahad Al-Saif, Ahmed Alhumidi, Rama Ayed Alhallaf
Dyschromatosis symmetrica hereditaria (DSH) is a rare genodermatosis characterized by various sizes of both hyper- and hypopigmented macules arranged in reticulated patterns on the face and the dorsal aspects of the extremities. There are also cutaneous and extracutaneous abnormalities, but they are rare. As far as we know, DSH associated with immune-mediated conditions has not been reported. We report the first case of DSH, which is associated with cutaneous lupus erythematosus and hyperthyroidism.
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28492007/colchicine-may-assist-in-reducing-granulation-tissue-in-junctional-epidermolysis-bullosa
#8
Minhee Kim, Swaranjali Jain, Adam G Harris, Dedee F Murrell
Epidermolysis bullosa (EB) is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB) due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and psychosocial burdens. Here we report the use of colchicine for ameliorating hypergranulating wounds in a 41-year-old female with JEB generalized intermediate. Her skin wounds and granulation tissue gradually exacerbated under silicone dressings such that she became profoundly anemic...
June 2016: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28439661/comparative-study-of-p16-protein-expression-in-squamous-cell-carcinomas-from-patients-with-epidermodysplasia-verruciformis-and-patients-without-the-disease
#9
Mayra S G Mattos, Walmar R Oliveira, Mirian N Sotto
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with susceptibility to beta-human papilloma virus (HPV) infection. EV patients develop disseminated warts and non-melanoma skin cancer, mainly squamous cell carcinomas (SCC) that are locally aggressive. EV pathogenesis is not yet fully understood, but alterations in the p16 gene play a role in the pathogenesis of neoplasms caused by high-risk genital HPV. To explore its role in EV lesions, we compared p16 expression in SCC from patients with and without EV...
April 24, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28434238/the-characteristics-and-long-term-course-of-epilepsy-in-lipoid-proteinosis-a-spectrum-from-mild-to-severe-seizures-in-relation-to-ecm1-mutations
#10
Emel Oguz Akarsu, Firdevs Dinçsoy Bir, Can Baykal, Volkan Taşdemir, Bülent Kara, Nerses Bebek, Candan Gürses, Oya Uyguner, Betül Baykan
Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an extracutaneous manifestation associated with typical mesial temporal calcifications, has already been identified, but its characteristics and long-term prognosis have not been thoroughly investigated. We included 7 consecutive patients with LP with typical intracranial calcifications out of 16 patients with ECM1 mutations and investigated the semiologic features, ictal and interictal EEG findings, and long-term prognosis of epilepsy in this genodermatosis...
April 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/28393185/two-novel-adar1-gene-mutations-in-two-patients-with-dyschromatosis-symmetrical-hereditaria-from-birth
#11
Qian Zhou, Linglin Zhang, Yunfeng Zhang, Hao Luo, Lude Zhu, Peiru Wang, Guolong Zhang, Xiuli Wang
Dyschromatosis symmetrica hereditaria (DSH) is a rare type of pigmentary genodermatosis, which is autosomal dominantly inherited with high penetrance. The onset of DSH is typically during infancy or childhood. Cases of patients born with skin lesions have rarely been reported. Additionally, there have been few significant non‑cutaneous complications reported with DSH. The present study reported two sporadic cases of patients born with DSH, confirmed by the identification of ADAR1 mutations. Additionally, comorbidity of DSH, congenital heart disease (CHD) and hemangioma disease were first reported...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28353165/poikiloderma-with-neutropenia-in-morocco-a-report-of-four-cases
#12
Ayoub Aglaguel, Houria Abdelghaffar, Fatima Ailal, Norddine Habti, Sebastian Hesse, Naschla Kohistani, Christoph Klein, Ahmed Aziz Bousfiha
PURPOSE: Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in Navajo Native Americans, is characterized by early onset poikiloderma, pachyonychia, palmo-plantar hyperkeratosis, and permanent neutropenia. This condition results in frequent respiratory tract infections during infancy and childhood. From 2011 to 2013, four cases of PN were diagnosed in Morocco. In this paper, we report the first four cases of PN diagnosed in Morocco, out of three unrelated consanguinous families...
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28329617/extensive-unilateral-nevus-comedonicus-without-genetic-abnormality
#13
Anca Chiriac, Luminita Paduraru, Gorduza Vlad Eusebiu, Constantine A Stratakis, Christos C Zouboulis
Nevus comedonicus is considered a genodermatosis characterized by the presence of multiple groups of dilated pilosebaceous orifices filled with black keratin plugs, with sharply unilateral distribution mostly on the face, neck, trunk, upper arms. Lesions can appear at any age, frequently before the age of 10 years, but they are usually present at birth. We present a 2.7-year-old girl with a very severe form of nevus comedonicus. She exhibited lesions located initially at the left side of the body with a linear characteristic, following Blascko lines T1/T2, T5, T7, S1 /S2, but progressively developed lesions on the right side of the scalp and left gluteal area...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329491/congenital-erythropoietic-porphyria-gunther-disease-long-term-follow-up-of-a-case-and-review
#14
Matthew Howard, Anthony Hall, Donald Ramsay
Patients with the rare genodermatosis congenitalerythropoietic porphyria (CEP, Gunther disease)develop erosions and scarring on sun-exposedsites caused by phototoxin mediated damage.Compromised skin barrier function places patientsat higher risk of infection and long term sequelaeinclude scarring. We report a long term follow up ofa 60 year old patient born with CEP and provide anextensive literature review of CEP including recentupdates on potential management options. Multiplepatient interviews and collection of biochemistry datawere conducted for the case discussion...
February 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28323777/msh6-past-and-present-and-muir-torre-syndrome-connecting-the-dots
#15
REVIEW
Meera Mahalingam
Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less know, MSH6 is yet another key player...
April 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28300894/phacomatosis-pigmentovascularis-of-cesioflammea-type
#16
Delky Johanna Villarreal Villarreal, Fabiano Leal
Phacomatosis pigmentovascularis is a rare syndrome, defined as the simultaneous presence of vascular nevus and melanocytic nevus in the same patient. We report the case of a 53-year-old woman presented with dermal melanosis and extensive vascular nevus, which match the typical manifestations of phakomatosis pigmetovascularis of cesioflammea type, according to Happle's classification. The rare occurrence of this genodermatosis and the clinical exuberance of the skin lesions motivated this case report.
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28249776/lack-of-interaction-between-nemo-and-sharpin-impairs-linear-ubiquitination-and-nf-%C3%AE%C2%BAb-activation-and-leads-to-incontinentia-pigmenti
#17
Elodie Bal, Emmanuel Laplantine, Yamina Hamel, Virginie Dubosclard, Bertrand Boisson, Alessandra Pescatore, Capucine Picard, Smaïl Hadj-Rabia, Ghislaine Royer, Julie Steffann, Jean-Paul Bonnefont, Valeria M Ursini, Pierre Vabres, Arnold Munnich, Jean-Laurent Casanova, Christine Bodemer, Robert Weil, Fabrice Agou, Asma Smahi
BACKGROUND: Incontinentia pigmenti (IP; MIM308300) is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of-function mutations in the IKBKG gene encoding nuclear factor κB (NF-κB) essential modulator (NEMO; the regulatory subunit of the IκB kinase [IKK] complex). In 80% of cases of IP, the deletion of exons 4 to 10 leads to the absence of NEMO and total inhibition of NF-κB signaling. Here we describe a new IKBKG mutation responsible for IP resulting in an inactive truncated form of NEMO...
February 27, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28235824/a-nonsense-variant-in-the-st14-gene-in-akhal-teke-horses-with-naked-foal-syndrome
#18
Anina Bauer, Theresa Hiemesch, Vidhya Jagannathan, Markus Neuditschko, Iris Bachmann, Stefan Rieder, Sofia Mikko, M Cecilia Penedo, Nadja Tarasova, Martina Vitková, Nicolò Sirtori, Paola Roccabianca, Tosso Leeb, Monika M Welle
Naked foal syndrome (NFS) is a genodermatosis in the Akhal-Teke horse breed. We provide the first scientific description of this phenotype. Affected horses have almost no hair and show a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 yr of age. It is not clear whether a specific pathology caused the premature deaths. NFS is inherited as a monogenic autosomal recessive trait. We mapped the disease causing genetic variant to two segments on chromosomes 7 and 27 in the equine genome...
April 3, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28222720/birt-hogg-dub%C3%A3-syndrome-a-literature-review-and-case-study-of-a-chinese-woman-presenting-a-novel-flcn-mutation
#19
Shengyu Hao, Fei Long, Fenglan Sun, Teng Liu, Daowei Li, Shujuan Jiang
BACKGROUND: The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carcinoma, and recurrent pneumothoraxes. The disease is easily ignored or misdiagnosed as pneumothorax, pulmonary lymphangiomyomatosis (LAM), or emphysema. Follow-up and guidelines for managing recurrent pneumothoraxes in these patients are lacking...
February 21, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28213897/laryngo-onycho-cutaneous-like-syndrome-due-to-mutated-plectin
#20
Christine Prodinger, Alfred Klausegger, Anja Diem, Johann W Bauer, Martin Laimer
Laryngo-onycho-cutaneous syndrome (LOC) is a rare autosomal recessive genodermatosis that has been mainly described in the offspring of consanguineous families with origin in the Punjabi region of Pakistan and India [1]. Founder mutations affecting the LAMA3A gene on chromosome 18q11.2 have been implicated to underlie this syndrome [1,2]. Based on its molecular and clinical features, LOC was recently classified as a subtype of junctional Epidermolysis bullosa (JEB) [1]. This article is protected by copyright...
February 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
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