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disorder of keratinization

Arvis Sulovari, Yolanda H Chen, James J Hudziak, Dawei Li
Genetic variants with extreme allele frequency differences (EAFD) may underlie some human health disparities across populations. To identify EAFD loci, we systematically analyzed and characterized 81 million genomic variants from 2504 unrelated individuals of 26 world populations (phase III of the 1000 Genomes Project). Our analyses revealed a total of 434 genes, 15 pathways, and 18 diseases and traits influenced by EAFD variants from five continental populations. They included known EAFD genes, such as LCT (lactose tolerance), SLC24A5 (skin pigmentation), and EDAR (hair morphology)...
October 3, 2016: Human Genetics
Tom Hellebuyck, Richard Ducatelle, Leslie Bosseler, Annemie Van Caelenberg, Han Versnaeyen, Koen Chiers, An Martel
Neoplastic disorders are frequently encountered in the practice of reptile medicine. Herein we report the clinical behavior, antemortem diagnosis, and histopathologic characteristics of a recurrent intraoral keratinizing basal cell carcinoma (BCC) and a metastatic BCC of the carapace in 2 Hermann's tortoises (Testudo hermanni). Although squamous cell carcinomas (SCCs) in tortoises show similar predilection sites and gross pathologic features, the BCCs described in our report were characterized by a remarkably fast and highly infiltrative growth in comparison to SCCs...
November 2016: Journal of Veterinary Diagnostic Investigation
Young H Lim, Keith A Choate
Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, and Suzuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this disorder.
October 2016: Journal of Investigative Dermatology
Shilpi Khetarpal, Apra Sood, Steven D Billings
Keratosis pilaris (KP) is a disorder of follicular keratinization that is characterized by keratin plugs in the hair follicles with surrounding erythema. A 46-year-old man with chronic myelogenous leukemia (CML) was started on nilotinib, a second generation tyrosine kinase inhibitor (TKI). Two months later the patient noticed red bumps on the skin and patchy hair loss on the arms, chest, shoulders, back, and legs. Cutaneous reactions to nilotinib are the most frequent non-hematologic adverse effects reported...
2016: Dermatology Online Journal
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...
2016: Dermatology Online Journal
Christina Bergqvist, Paul Ramia, Ossama Abbas, Mazen Kurban
The nail is a unique epithelial skin appendage made up of a fully keratinized nail plate. The nail can be affected in several systemic illnesses, dermatological diseases, and inherited nail disorders. Nail dystrophies can present as isolated disorders or as a part of syndromes. Substantial progress has been achieved in the management and diagnosis of nail diseases; however, not much is known about the underlying molecular controls of nail growth. The homeostasis and development of the nail appendage depends on the intricate interactions between the epidermis and underlying mesenchyme, and comprises different signaling pathways such as the WNT signaling pathway...
September 10, 2016: Clinical Genetics
Ana Gameiro, Rita Cabral, Ana Moreno, Oscar Tellechea
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding, referred to as the moulting phenomenon. We report a case of SEI in an 18-month-old girl presenting with marked hypertrichosis. Although not invariably present, we believe that hypertrichosis can be an important clue for diagnosis.
September 7, 2016: Pediatric Dermatology
John Verrinder Veasey, Monique Coelho Dalapicola, Rute Facchini Lellis, Adriana Bittencourt Campaner, Thiago da Silveira Manzione, Maria Clarissa de Faria Soares Rodrigues
Porokeratosis is a disorder of epidermal keratinization characterized clinically by a distinctive ridge-like border, and histologically by cornoid lamellae. The known clinical variants of porokeratosis are: classic porokeratosis of Mibelli, disseminated superficial (actinic) porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata, linear porokeratosis and punctate porokeratosis. In 1995, a seventh form was described as porokeratosis ptychotropica: a verrucous form resembling psoriasis involving the gluteal cleft presenting on the histological exam multiple cornoid lamellae...
July 2016: Anais Brasileiros de Dermatologia
Satish Udare, Karishma Hemmady
A dermatoscope is an important tool in a dermatologist's armamentarium as it can eliminate the need for a biopsy in a wide array of conditions. Porokeratosis was described by Mibelli and Respighi in 1893, as a disorder of keratinization which on the basis of distribution patterns was described as five clinical variants that portrayed a coronoid lamella on histopathology. We describe a case of asymptomatic, long-standing palmar and plantar pits, which on dermatoscopy showed features suggestive of porokeratosis, which was later reconfirmed by histopathologic sections...
July 2016: Indian Dermatology Online Journal
M Tirant, P Bayer, J Hercogovấ, M Fioranelli, S Gianfaldoni, A A Chokoeva, G Tchernev, U Wollina, F Novotny, M G Roccia, G K Maximov, K França, T Lotti
Lamellar ichthyosis (LI) is a genetically heterogeneous group of disorders of keratinization that are inherited in an autosomal recessive fashion, occurring in approximately 1 in 300,000 live births. The treatment of the large, dark, plate-like scales that characterize the classic manifestation of the disease are still a challenge. The aim of this study was to evaluate the efficacy and tolerability of Dr. Michaels® skin-care products for the management of LI. A multi-centre European prospective study was conducted, including 10 patients (3 female/7 male) with lamellar ichthyosis, aged 38-54 years old (mean age: 46)...
April 2016: Journal of Biological Regulators and Homeostatic Agents
Danielle Resende Camisasca, Lorena da Rós Gonçalves, Márcia Regina Soares, Vanessa Sandim, Fábio César Sousa Nogueira, Carlos Henrique Saraiva Garcia, Rodrigo Santana, Silvia Paula de Oliveira, Luisa Aguirre Buexm, Paulo Antônio Silvestre de Faria, Fernando Luiz Dias, Denise de Abreu Pereira, Russolina B Zingali, Gilda Alves, Simone Queiroz Chaves Lourenço
BACKGROUND: Oral leukoplakia is the most common potentially malignant disorder in the oral cavity and can precede carcinoma. This study aimed to identify possible oral leukoplakia salivary biomarkers. METHODS: Unstimulated saliva was collected from participants and protein concentration was determined. Proteins were then precipitated with cold acetone and separated using 2DE over a pH range of 3-10. Spot demarcation and matching were performed and protein identification was done through MS analysis...
July 29, 2016: Journal of Proteomics
Ewa Stypczyńska, Waldemar Placek, Barbara Zegarska, Rafał Czajkowski
Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C)...
June 2016: Acta Dermatovenerologica Croatica: ADC
Georgi Tchernev, Anastasiya Atanasova Chokoeva, Bogdana Ivanova, Hristo Mangarov, Nadezhda Georgieva Vidolova
Porokeratosis is defined as a disorder of keratinization characterized by one or more atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. Lesions are most commonly located on the sun-exposed sides of trunk and extremities, while exclusive facial involvement has been also reported. Despite that the exact risk of cutaneous malignancy developing in porokeratosis is unknown, it is confirmed by series of case reports, including squamous cell carcinoma, basal cell carcinoma and even melanoma...
July 28, 2016: Wiener Medizinische Wochenschrift
Maxine Zylberberg, Caroline Van Hemert, John P Dumbacher, Colleen M Handel, Tarik Tihan, Joseph L DeRisi
UNLABELLED: Avian keratin disorder (AKD), characterized by debilitating overgrowth of the avian beak, was first documented in black-capped chickadees (Poecile atricapillus) in Alaska. Subsequently, similar deformities have appeared in numerous species across continents. Despite the widespread distribution of this emerging pathology, the cause of AKD remains elusive. As a result, it is unknown whether suspected cases of AKD in the afflicted species are causally linked, and the impacts of this pathology at the population and community levels are difficult to evaluate...
2016: MBio
Caroline Van Hemert, Colleen M Handel
We measured serum chemistries in wild Black-capped Chickadees ( Poecile atricapillus ) from Alaska to test for potential differences associated with beak deformities characteristic of avian keratin disorder. Lower uric acid in affected birds was the only difference detected between groups, although sample sizes were small. This difference could be associated with fasting or malnutrition in birds with beak deformities, but it is challenging to interpret its biologic significance without reference values. Black-capped Chickadees had high levels of aspartate aminotransferase, lactate dehydrogenase, and creatine kinase relative to reference values for companion birds...
October 2016: Journal of Wildlife Diseases
Giordana Zanna, Paola Roccabianca, Eric Zini, Sara Legnani, Fabia Scarampella, Silvana Arrighi, Antonella Tosti
BACKGROUND: Dermoscopic studies evaluating noninflammatory, nonpruritic progressive alopecia attributable to pattern alopecia are currently unavailable. HYPOTHESIS/OBJECTIVES: To evaluate the dermoscopic features observed in healthy skin of short coated dogs and compare these findings with those observed in dogs affected by pattern alopecia diagnosed by clinical and dermatopathological examination. ANIMALS: Thirty male and female, healthy, breed matched, young adult, short coated dogs (controls) and 30 male and female, young adult, short coated dogs affected by pattern alopecia...
July 18, 2016: Veterinary Dermatology
M Li, Z Li, J Wang, C Ni, Z Sun, N J Wilson, J Zhang, F Chen, X Li, X Du, H Yu, L Zhang, F J D Smith, G Zhang, Z Yao
BACKGROUND: Porokeratosis (PK, MIM 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical manifestations. OBJECTIVES: We analysed the molecular basis of 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population. METHODS: Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of four mevalonate pathway genes and SLC17A9 gene...
September 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Jay Gopal Ray, Kannan Ranganathan, Amit Chattopadhyay
Oral submucous fibrosis (OSF), first described in 1952, is a potentially malignant disorder associated with betel quid and areca nut chewing, mostly prevalent in the population of the Indian subcontinent and South East Asia. Malignant transformation of OSF to squamous cell carcinoma (SCC) has been estimated to be between 2% and 8%. Our study aimed to review the histopathologic changes that contribute to the understanding of the malignant transformation of OSF. Changes in epithelial thickness and dysplasia characterized by micronuclei, altered AgNOR counts and distribution, keratin protein alteration, and alteration of P63 and E-cadherin characterize the epithelial changes during the transformation of OSF to SCC...
August 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Nareh V Marukian, Keith A Choate
The ichthyoses, also known as disorders of keratinization (DOK), encompass a heterogeneous group of skin diseases linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the characteristic clinical manifestation of localized and/or generalized scaling. Additional cutaneous findings frequently seen in ichthyoses include generalized xerosis, erythroderma, palmoplantar keratoderma, hypohydrosis, and recurrent infections. In 2009, the Ichthyosis Consensus Conference established a classification consensus for DOK based on pathophysiology, clinical manifestations, and mode of inheritance...
2016: F1000Research
C Charfeddine, C Ktaifi, N Laroussi, H Hammami, H Jmel, Z Landoulsi, T Badri, R Benmously, M Bchetnia, M S Boubaker, S Fenniche, S Abdelhak, M Mokni
BACKGROUND: Punctate palmoplantar keratoderma type I (PPPK-BFB), also called Buschke-Fischer-Brauer disease (MIM 148600) is a rare autosomal dominant disorder of keratinization, characterized by multiple hyperkeratotic lesions on the palms and soles. Recently, PPPK-BFB has been shown to be associated with mutations in the AAGAB gene in several families of European, African, Canadian and Asian origins. OBJECTIVE: To characterize the clinical and genetic features of PPPK-BFB in a broad group of Tunisian patients...
July 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
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