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disorder of keratinization

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https://www.readbyqxmd.com/read/28732181/irf6-and-spry4-signaling-interact-in-periderm-development
#1
Y A Kousa, R Roushangar, N Patel, A Walter, P Marangoni, R Krumlauf, O D Klein, B C Schutte
Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. Common variants in IRF6 and GRHL3 also contribute risk for isolated orofacial clefting. Similarly, variants within genes that encode receptor tyrosine kinase (RTK) signaling components, including members of the FGF pathway, EPHA3 and SPRY2, also contribute risk for isolated orofacial clefting. In the mouse, loss of Irf6 or perturbation of Fgf signaling leads to abnormal oral epithelial adhesions and cleft palate...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28722455/-hidradenitis-suppurativa-symptoms-diagnostics-and-therapy
#2
Monika Arenbergerová, Robert Artur Dahmen, Petr Arenberger
Hidradenitis suppurativa is a chronic skin disorder characterized by recurrent inflammatory nodules, fistulas, abscesses, and scarring mainly in the intertriginous areas with terminal hair and apocrine glands. Hidradenitis suppurativa manifests usually after puberty, in the third life decade and persists for many years. The prevalence of the disease is estimated to be 0,5 % in the Czech Republic. Women are most often affected in the axillary and inguinal parts, while men in the perianal and gluteal areas. The exact pathogenesis is still unknown...
2017: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/28686854/rest-final-exon-truncating-mutations-cause-hereditary-gingival-fibromatosis
#3
Yavuz Bayram, Janson J White, Nursel Elcioglu, Megan T Cho, Neda Zadeh, Asuman Gedikbasi, Sukru Palanduz, Sukru Ozturk, Kivanc Cefle, Ozgur Kasapcopur, Zeynep Coban Akdemir, Davut Pehlivan, Amber Begtrup, Claudia M B Carvalho, Ingrid Sophie Paine, Ali Mentes, Kivanc Bektas-Kayhan, Ender Karaca, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski
Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and 11p15) have been mapped to autosomes and one gene (SOS1) has been associated with the HGF trait observed to segregate in a dominant inheritance pattern...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28685316/-liver-biopsy-in-children-and-adolescents-preliminary-morphological-examinations-in-diffuse-liver-disease
#4
REVIEW
C Lackner, A S Knisely
BACKGROUND: Frequencies of types of liver disease differ between adults and nonadults (NA). OBJECTIVES: The particular problems encountered in interpreting liver-biopsy findings in NA often require referral in consultation.  To permit this efficiently, we recommend specific approaches to light microscopy, with special stains and immunohistochemistry, as well as to ultrastructural study. METHODS: Prosection and the choice of special stains are described, and are discussed in relation to clinical questions...
July 2017: Der Pathologe
https://www.readbyqxmd.com/read/28662599/hair-growth-promoting-activity-of-discarded-biocomposite-keratin-extract
#5
Md Rashedunnabi Akanda, Hak-Yong Kim, Mira Park, In-Shik Kim, Dongchoon Ahn, Hyun-Jin Tae, Byung-Yong Park
Keratin biomaterial has been used in regenerative medicine owing to its in-vivo and in-vitro biocompatibility. The present study was aimed to investigate the hair growth promoting activity of keratin extract and its mechanism of action. Keratin extract was topically applied on the synchronized depilated dorsal skin of telogenic C57BL/6 mice and promoted hair growth by inducing the anagen phase. The histomorphometric observation indicated significantly increases the number, shaft of hair follicles and deep subcutis area in the keratin extract treated group in contrast to the control group, which was considered an indication of anagen phase induction...
January 1, 2017: Journal of Biomaterials Applications
https://www.readbyqxmd.com/read/28647894/keratin-gene-mutations-influence-the-keratinocyte-response-to-dna-damage-and-cytokine-induced-apoptosis
#6
Tina Zupancic, Gregor Sersa, Hans Törmä, Ellen Birgitte Lane, Harald Herrmann, Radovan Komel, Mirjana Liovic
The keratin filament cytoskeleton is vital to the normal function of epithelial cells. It provides structural support and regulates different aspects of cell metabolism. Mutations in keratins 5 and 14 cause a skin fragility disorder, epidermolysis bullosa simplex (EBS). Patients with severe EBS have an increased cumulative risk for basal cell carcinoma. In this study, we tested how keratin 5 and 14 mutant EBS patient-derived keratinocytes behave in the face of two different types of stressors that are able to induce cell death: ionizing radiation and cytokines TNF-α and TRAIL...
June 24, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28632889/onychodystrophy-due-to-porokeratosis-of-mibelli-a-rare-association
#7
Manoj Pawar
Porokeratosis is a specific keratinization disorder that manifests clinically as well-demarcated annular or linear keratotic plaques of various sizes and forms and with distinguished histology showing cornoid lamella, which is a column of closely packed parakeratotic cells extending through the stratum corneum. Nail changes secondary to porokeratotic lesions involving digits are quite uncommon and rarely reported in the porokeratosis of Mibelli (PM) subtype. Here we report the case of a young girl with a PM lesion over the hand along with nail dystrophy of the involved digit...
June 2017: Acta Dermatovenerologica Alpina, Panonica, et Adriatica
https://www.readbyqxmd.com/read/28596001/establishing-and-validating-an-ichthyosis-severity-index
#8
Nareh V Marukian, Yanhong Deng, Geliang Gan, Ivy Ren, Wisblaude Thermidor, Brittany G Craiglow, Leonard M Milstone, Keith A Choate
We designed and validated a Visual Index for Ichthyosis Severity (VIIS) for scale and erythema that provides 1) written descriptions of the features characteristic of each level of severity 2) visual standards for 4 body sites, and 3) two distinct standards to account for different types of scale. We tested the VIIS for reliability and reproducibility using two different settings: one that utilized scoring of 60 test photographs by 10 dermatologists, and one with in-person evaluations on 85 subjects by 12 dermatologists at the Foundation for Ichthyosis and Related Skin Types (FIRST) conference...
June 5, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28590952/role-of-human-papillomavirus-in-vulvar-cancer
#9
Natalia Rakislova, Adela Saco, Adriana Sierra, Marta Del Pino, Jaume Ordi
Human papillomavirus (HPV) is involved in one of the at least 2 pathways leading to vulvar squamous cell carcinoma (VSCC). Inactivation of p53 and retinoblastoma by the viral products E6 and E7 is involved in malignant transformation. The percentage of HPV-positive VSCCs ranges from 18% to 75%, depending on the geographical area. HPV-associated tumors affect relatively young women and arise from high-grade intraepithelial lesions, identical to other HPV-associated premalignant lesions of the anogenital tract...
July 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28576030/sustainable-and-smart-keratin-hydrogel-with-ph-sensitive-swelling-and-enhanced-mechanical-properties
#10
María Luz Peralta Ramos, Joaquín Antonio González, Lucas Fabian, Claudio Javier Pérez, María Emilia Villanueva, Guillermo Javier Copello
Protein based hydrogels are a very interesting type of biomaterials with many probed strengths related to their source and chemical structure. Biocompatibility and biodegradability are accompanied by affordability when it comes to low cost sources. The main keratin source is agroindustrial waste, such as feathers, horns, hooves, hair and wool. Thus, the main cost of keratin hydrogels derives from their processing. Here is presented a new strategy for the obtaining of a keratin hydrogel with enhanced mechanical properties using low cost reagents...
September 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28544808/the-first-transepidermal-transplantation-of-non-cultured-epidermal-suspension-using-a-dermarolling-system-in-vitiligo-a-sequential-histological-and-clinical-study
#11
L Benzekri, Y Gauthier
The current methods for melanocyte delivery to depigmented skin are invasive and often require sophisticated approaches. Here we describe a promising simple and minimally invasive technique based on the dermarolling system. The technique involves preparation of a keratinocyte/melanocyte suspension prepared by trypsinization from a non-lesioned part of a patient's scalp skin and transepidermal delivery using a dermaroller equipped with 0.2 mm needles. Dermarolling leads to epidermal microinjuries without, however, causing pain or inflammation...
May 19, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28543715/a-novel-nonframeshift-deletion-in-mvk-gene-responsible-for-disseminated-superficial-actinic-porokeratosis-in-one-chinese-family
#12
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/28532758/the-kelch-surprise-klhl24-%C3%A2-a%C3%A2-new%C3%A2-player-in-the-pathogenesis-of%C3%A2-skin-fragility
#13
Cristina Has
A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes.
June 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28498512/recurrent-atp2a2-p-pro602leu-mutation-differentiates-acrokeratosis-verruciformis-of-hopf-from-the-allelic-condition-darier-disease
#14
Anne Ronan, Angela Ingrey, Natalia Murray, Paul Chee
Darier disease and Acrokeratosis Verruciformis of Hopf (AKV) are rare disorders of keratinization with autosomal dominant inheritance and very distinct clinical pictures. Both have been shown to be caused by mutations in ATP2A2 (ATPase, Ca(++) transporting, cardiac muscle, slow-twitch) a gene encoding one of the SERCA (sarcoplasmic/endoplasmic reticulum calcium ATPase2) intracellular pumps with a crucial role in cell-to-cell adhesion in both skin and heart. While hundreds of different missense and nonsense mutations cause Darier disease, only one missense mutation, p...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28424304/giant-axonal-neuropathy-alters-the-structure-of-keratin-intermediate-filaments-in-human-hair
#15
Asfia Soomro, Richard J Alsop, Atsuko Negishi, Laurent Kreplak, Douglas Fudge, Edward R Kuczmarski, Robert D Goldman, Maikel C Rheinstädter
Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, ataxia, seizures, intellectual disability, pale skin and often curled hair. We used X-ray diffraction and tensile testing to determine potential changes to the structure of keratin intermediate filaments (IFs) in the hair of patients with GAN...
April 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28418611/ectopic-expression-of-the-transcription-factor-mafb-in-basal-keratinocytes-induces-hyper-proliferation-and-perturbs-epidermal-homeostasis
#16
Masashi Miyai, Yukino Tsunekage, Michiko Saito, Kenji Kohno, Kenzo Takahashi, Kohsuke Kataoka
Mammalian epidermis is composed of four morphologically and functionally distinct layers of keratinocytes. The innermost basal layer consists of proliferating self-renewing keratinocytes, which also undergo asymmetric cell division to differentiate into post-mitotic suprabasal cells throughout life. Control of the balance between growth and differentiation of basal cells is important for epidermal homeostasis to prevent skin disorders including malignancies; however, the underlying mechanism remains to be elucidated...
April 18, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28403434/expanding-the-genotypic-spectrum-of-bathing-suit-ichthyosis
#17
MULTICENTER STUDY
Nareh V Marukian, Rong-Hua Hu, Brittany G Craiglow, Leonard M Milstone, Jing Zhou, Amy Theos, Hande Kaymakcalan, Deniz A Akkaya, Jouni J Uitto, Hassan Vahidnezhad, Leila Youssefian, Susan J Bayliss, Amy S Paller, Lynn M Boyden, Keith A Choate
Importance: Bathing suit ichthyosis (BSI) is a rare congenital disorder of keratinization characterized by restriction of scale to sites of relatively higher temperature such as the trunk, with cooler areas remaining unaffected. Fewer than 40 cases have been reported in the literature. Bathing suit ichthyosis is caused by recessive, temperature-sensitive mutations in the transglutaminase-1 gene (TGM1). Clear genotype-phenotype correlations have been difficult to establish because several of the same TGM1 mutations have been reported in BSI and other forms of congenital ichthyosis...
June 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28369476/pnpla1-defects-in-patients-with-autosomal-recessive-congenital-ichthyosis-and-ko-mice-sustain-pnpla1-irreplaceable-function-in-epidermal-omega-o-acylceramide-synthesis-and-skin-permeability-barrier
#18
Mélanie Pichery, Anne Huchenq, Roger Sandhoff, Maella Severino-Freire, Sarra Zaafouri, Lukáš Opálka, Thierry Levade, Vanessa Soldan, Justine Bertrand-Michel, Emeline Lhuillier, Guy Serre, Annabel Maruani, Juliette Mazereeuw-Hautier, Nathalie Jonca
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic genodermatoses that encompasses non-syndromic disorders of keratinization. The pathophysiology of ARCI has been linked to a disturbance in epidermal lipid metabolism that impaired the stratum corneum function, leading to permeability barrier defects. Functional characterization of some genes involved in ARCI contributed to the identification of molecular actors involved in epidermal lipid synthesis, transport or processing...
May 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28329587/a-case-and-review-of-congenital-leukonychia
#19
Akhilesh S Pathipati, Justin M Ko, John M Yost
Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329543/herpes-simplex-virus-in-erythrokeratoderma-variabilis
#20
Shields Callahan, Euphemia Mu, Randie H Kim, Shane A Meehan, Paul Possick
We report a 48 -year-old woman witherythrokeratoderma variabilis, which is a rarehereditary disorder of keratinization, who developednew, painful, blisters within her skin lesions. Thediagnosis of herpes simplex virus infection was madebased on the clinical history and histopathologicfeatures. She was successfully treated withprophylactic valacyclovir, and her herpetic outbreakshave halted. This case serves as a reminder thateven among the most rare skin disorders, commonsecondary complications may be easily overlooked...
December 15, 2016: Dermatology Online Journal
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