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Genodermatosis

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https://www.readbyqxmd.com/read/28196644/re-evaluation-of-epidermodysplasia-verruciformis-reconciling-more-than-90%C3%A2-years-of-debate
#1
REVIEW
Joanna Przybyszewska, Abraham Zlotogorski, Yuval Ramot
Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by abnormal susceptibility to cutaneous human beta-papillomavirus infections causing persistent flat warts or pityriasis versicolor-like lesions. This generalized verrucous skin disorder resembles generalized verrucosis, but these 2 conditions are distinguished by differences in clinical manifestation and the human papillomavirus types involved. A breakthrough in our understanding of EV was the discovery that homozygous inactivating mutations in TMC6 (EVER1) and TMC8 (EVER2) determine susceptibility to this disorder; however, they have not solved all EV cases fully...
February 10, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28111777/vegetating-candidiasis-a-mimicker-of-squamous-cell-carcinoma-in-keratitis-ichthyosis-deafness-syndrome
#2
Ximena Calderón-Castrat, Julio Vega-Zuñiga, Felipe Velásquez, Rosalía Ballona
Keratitis ichthyosis deafness (KID) syndrome is a rare genodermatosis with a high risk of cutaneous malignancy and infections. Infections can induce pseudocarcinomatous epidermal hyperplasia, leading to erroneous diagnosis of squamous cell carcinoma. We present a pediatric case of KID syndrome with vegetating plantar and acral candidiasis and highlight the importance of correct biopsy technique and clinicopathologic correlation in appropriate management.
January 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/27990388/mucocutaneous-manifestations-of-cowden-s-syndrome
#3
Kundoor Vinay Kumar Reddy, Amarthuluri Anusha, Kotya Naik Maloth, Kesidi Sunitha, Moni Thakur
Cowden's syndrome is an autosomal dominant genodermatosis with variable orofacial and systemic manifestations. Here we present one such classical case of Cowden's syndrome in a 45-year-old female patient with features such as multiple cutaneous papillomatosis, oral fibromas, and fibromas involving multiple organs such as gastrointestinal tract (multiple polyps), thyroid disorders, and breast cancer.
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27941563/the-role-of-collagen-iv-and-cytokeratin-5-6-immunohistochemistry-in-identifying-subtypes-of-hereditary-epidermolysis-bullosa
#4
Ahmed Alhumidi
Hereditary epidermolysis bullosa (EB) constitute a genodermatosis group with variable clinical severity. Biopsies diagnosed as EB in the last 4 years were retrieved from the database of the king Khalid University Hospital and military hospital lab at Saudi Arabia. The current study was performed to examine the diagnostic usefulness of immunohistochemistry, as compared with electron microscopic examination, for subclassification of HEB. Fourteen cases were studied. Collagen IV immunostain was located above the blister in all dystrophic EB cases, and below the blister in all cases of epidermolytic and junctional EB...
December 9, 2016: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/27939087/-precancerous-lesions-of-the-buccal-epithelium
#5
C Renaud-Vilmer, B Cavelier-Balloy
Squamous cell carcinomas of the oral cavity and lips consistently have a high incidence (they constitute the fifth most common form of cancer in France) and carry a heavy prognosis, particularly if diagnosed late. According to different studies, between 10 and 80% of such carcinomas occur in a pre-existing or precancerous lesion. The World Health Organisation (WHO) recommends the use of two terms for such lesions: precursor lesions, i.e. histological lesions associated with intraepithelial neoplasia (IEN) and verrucous hyperplasia (VH), frequently resulting clinically in leukoplakia or erythroplakia; "at risk" lesions, which include lichen planus, submucosal oral fibrosis and certain forms of genodermatosis...
December 6, 2016: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27871249/benign-clear-cell-sugar-tumor-of-the-lung-in-a-patient-with-birt-hogg-dub%C3%A3-syndrome-a-case-report
#6
Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanistic target of rapamycin (mTOR) signaling pathway regulating cell growth and metabolism. Clinical manifestations in BHD syndrome is characterized by fibrofolliculomas of the skin, pulmonary cysts with or without spontaneous pneumothorax, and renal neoplasms. There has been no pulmonary neoplasm reported in BHD syndrome, although the condition is due to deleterious sequence variants in a tumor suppressor gene...
November 21, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27822395/generational-expression-of-muir-torre-syndrome-in-a-canadian-family
#7
Kaitlin Alexandra Vanderbeck, R Gary Sibbald, Nirosha Murugan
Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmed HMSH2 mutation. Recently she presented with two nodular lesions. Histologic examination confirmed these lesions to be sebaceous neoplasms. The patient has a history of endometrial and colorectal adenocarcinoma as well as several nonspecific sebaceous lesions throughout her life...
2016: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/27785414/von-recklinghausen-disease-one-patient-various-problems
#8
B Bergler-Czop, B Miziołek, L Brzezińska-Wcisło
von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well known to be a tumor suppressor factor. This counteracts possible overactivity of RAS (protein)/MAPK (mitogen-activated protein kinase) and RAS/PI3K/AKT/mTOR (phoshatydyloinositol-3-kinase/V-akt murine thy-moma viral oncogene homologue/mammalian target of rapamycin) signaling transduction pathways, preventing from uncontrolled cell proliferation and subsequent tumor formation...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27767270/a-multistep-approach-to-the-diagnosis-of-rare-genodermatoses
#9
Iliana Tantcheva-Poór, Vinzenz Oji, Cristina Has
Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/27721754/exacerbation-of-darier-disease-under-interferon-%C3%AE-2a-therapy-with-clinical-signs-of-lichen-nitidus
#10
Ioannis Karagiannidis, Martina Brunner, Christos C Zouboulis
Darier disease/dyskeratosis follicularis is a genodermatosis characterized by brown, oily keratotic papules and plaques in the seborrheic areas of the face and chest. Responsible for the disease are mutations in the ATP2A2 gene, encoding SERCA2, a calcium pump of the sarco-/endoplasmic reticulum. Mechanical trauma, heat, humidity, ultraviolet B radiation, oral corticosteroids and lithium are known trigger factors of the disorder. We report on a 48-year-old German woman with a flare-up of Darier disease under interferon-α-2a (IFNα-2a) therapy with clinical signs of lichen nitidus...
May 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27688459/heterozygous-cylindromatosis-gene-mutation-c-1628_1629delct-in-a-family-with-brook-spiegler-syndrome
#11
Cintia Arjona Aguilera, Raquel De la Varga Martínez, Lidia Ossorio García, David Jiménez-Gallo, Cristina Albarrán Planelles, Mario Linares Barrios
Brooke-Spiegler Syndrome (BSS) is a rare genodermatosis characterized by the progressive formation of adnexal skin tumors in the scalp and face, mainly trichoepitheliomas, cylindromas, and spiradenomas. It has also been associated with salivary glands neoplasms. It is due to mutations in the tumor suppressor gene cylindromatosis (CYLD gene) localized on chromosome 16q12-q13. Around 93 mutations have been described. The study of CYLD gene in patients and their relatives is of vital importance to establish the molecular diagnosis and offer appropriate genetic counseling...
September 2016: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/27682856/multiple-clear-cell-acanthomas-and-a-sebaceous-lymphadenoma-presenting-in-a-patient-with-cowden-syndrome%C3%A2-%C3%A2-a-case-report
#12
Silvia Potenziani, Danielle Applebaum, Bhuvaneswari Krishnan, Carolina Gutiérrez, A Hafeez Diwan
Cowden syndrome (CS) is an uncommon autosomal dominant multiorgan/system genodermatosis. It is characterized by the development of multiple hamartomas of endodermal, mesodermal and ectodermal origin, an increased lifetime risk of breast, thyroid, endometrial and other cancers and an identifiable germline mutation. Mucocutaneous hamartomas are the most common lesions seen and mainly include facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Herein, we report a case of a 63-year-old Caucasian male with a long-established diagnosis of CS and history of thyroid cancer, colonic polyps, and innumerable trichilemmomas, seborrheic keratoses, squamous papillomas and non-melanoma skin cancers excised in the past...
January 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27667308/filaggrin-failure-from-ichthyosis-vulgaris-to-atopic-eczema-and-beyond
#13
REVIEW
W H I McLean
The main proteinaceous component of the keratohyalin granules within the granular layer keratinocytes of the epidermis is the giant, repetitive polyprotein profilaggrin. When granular layer cells commit to terminal differentiation to form the flattened squames of the stratum corneum, profilaggrin is rapidly cleaved into multiple copies of the 37 kDa filaggrin monomer, which binds to and condenses the keratin cytoskeleton, thereby facilitating cellular compression. Within the stratum corneum, filaggrin is broken down to form natural moisturising factor, a pool of amino acids and derivatives thereof that exerts multiple effects...
October 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27617721/segmental-neurofibromatosis-and-cancer-report-of-triple-malignancy-in-a-woman-with-mosaic-neurofibromatosis-1-and-review-of-neoplasms-in-segmental-neurofibromatosis
#14
Philip R Cohen
BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body.PurposeA woman with segmental neurofibromatosis and triple cancer (renal cell carcinoma, mixed thyroid carcinoma, and lentigo maligna) is described and cancers observed in patients with segmental neurofibromatosis are reviewed.MethodsPubMed was used to search the following terms, separately and in combination: cancer, malignancy, mosaic, neoplasm, neurofibroma, neurofibromatosis, segment, segmental, tumor...
July 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27617605/segmental-lesions-along-blaschko%C3%A2-s-lines-in-an-elderly-man
#15
Fátima Tous Romero, Sara Burillo Martinez, Carlos Raya-Morales, Vanessa Gargallo-Moneva, Lidia Maroñas-Jiménez
Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple keratotic and crusted papules over seborrheic areas, along with a variable involvement of oral mucosa, palmoplantar region, and nails. Segmental subtypes (type 1 and 2) are uncommon clinically limited forms of DD that usually present at middle age with few cutaneous lesions following Blaschko´s lines. We report a case of extensive multi segmental DD type 1 that developed in an elderly man, an unusual clinical onset of DD that dermatologists should bear in mind...
June 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27617521/successful-treatment-of-pityriasis-lichenoides-chronica-with-narrow-band-ultraviolet-b-therapy-in-a-patient-with-keratitis-ichthyosis-deafness-syndrome-a-case-report
#16
Andac Salman, Dilek Seckin Gencosmanoglu, Ayse Deniz Yucelten, Nursel Elcioglu, Gabriele Richard, Cuyan Demirkesen
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis causing ichthyosis-like skin lesions, keratitis, and deafness. Herein, we report a patient with this rare syndrome in association with pityriasis lichenoides chronica, which was succesfully treated with narrow-band ultraviolet B phototherapy despite our concerns regarding the increased risk of squamous cell carcinoma, hyperpyrexia, and keratitis.
May 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27617465/infantile-epidermolytic-ichthyosis-with-prominent-maternal-palmoplantar-keratoderma
#17
Wallace Austin Smith, Austin Cope, Martin Fernandez, Palak Parekh
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age...
April 18, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27602400/incontinentia-pigmenti-a-rare-multisystem-disorder-case-report-of-a-10-year-old-girl
#18
Rezvan Rafatjoo, Amene Taghdisi Kashani
Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected such as the central nervous system, eyes, hair, nails and teeth. The disease has an X-linked dominant inheritance pattern. But in our case, there was a mutation in the body cells due to incontinentia pigmenti. The dermatological findings occur in four successive phases. We report the case of a 10-year-old female presented cutaneous, dental and ophthalmic characteristic with 3 years follow-up...
September 2016: Journal of Dentistry
https://www.readbyqxmd.com/read/27568180/chemotaxis-driven-disease-site-targeting-of-therapeutic-adult-stem-cells-in-dystrophic-epidermolysis-bullosa
#19
Vitali Alexeev, Adele Donahue, Jouni Uitto, Olga Igoucheva
BACKGROUND: Dystrophic epidermolysis bullosa (DEB), a rare genodermatosis, is characterized by the formation of intra-epidermal blistering and the development of chronic nonhealing skin wounds. Recently, attempts have been made to develop cell-based therapies for this currently intractable disorder. The molecular mechanisms that govern directional migration of the adult stem cells, allowing their efficient and controlled homing to the skin affected with DEB, are poorly understood. The key mechanism that regulates recruitment of leukocytes and progenitor stem cells to distal anatomical tissues affected with disease is chemotaxis, which depends on the signaling molecules, chemokines, and acts primarily as part of the host defense and repair mechanism...
August 27, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27510943/exacerbation-of-hailey-hailey-disease-by-topiramate
#20
Azzam Alkhalifah, Henri Montaudié, Jean-Philippe Lacour, Michel Lantéri-Minet, Thierry Passeron
Hailey-Hailey disease, also known as familial benign chronic pemphigus, is a rare autosomal dominant genodermatosis characterized by vesicular lesions, painful erosions, fissures and erythematous plaques occurring at sites of friction. UV exposure, sweating, friction, and cutaneous infection can exacerbate the manifestations (1) . Intracellular signalization abnormalities occur due to mutations of the ATP2C1 gene, the coding calcium ion transporter protein SPCA1 on Golgi apparatus, causing intra-epidermal acantholysis responsible for the clinical manifestations (2) ...
August 11, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
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