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https://www.readbyqxmd.com/read/28448267/endogenous-thymosin-%C3%AE-4-expression-in-sacrococcygeal-pilonidal-sinus-disease-a-retrospective-immunohistochemical-analysis-of-excisional-skin-biopsy-samples
#1
Sevinc Sahin
Thymosin beta 4 (Tβ4) is a peptide that has been shown in dermal, corneal, and cardiac preclinical injury models to potentially affect tissue protection, regeneration, and repair. Sacrococcygeal pilonidal sinus disease (SPSD) is a chronic inflammatory disorder associated with a high incidence of recurrence, chronic fistulation, and a challenging postoperative surgical wound healing process. Retrospectively, an immunohistochemical analysis was conducted to evaluate endogenous Tβ4 expression in excisional skin biopsies from patients with SPSD...
April 2017: Ostomy/wound Management
https://www.readbyqxmd.com/read/28447433/serum-vitamin-d-level-is-related-to-disease-severity-in-pediatric-alopecia-areata
#2
Mehmet Unal, Gulsum Gonulalan
BACKGROUND: Alopecia areata (AA) is the most common cause of inflammatory hair loss. AA is considered an autoimmune disease and occurs with various autoimmune disorders. Recent studies have revealed connection between autoimmune diseases and vitamin D deficiency. OBJECTIVES: In this study, we investigated vitamin D status in AA and its relationship with disease severity, number of patches, and disease duration. METHODS: This study included 20 pediatric patients with AA and 34 pediatric healthy controls...
April 26, 2017: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/28447407/wiedemann-rautenstrauch-syndrome-a-phenotype-analysis
#3
Stefano Paolacci, Debora Bertola, José Franco, Shehla Mohammed, Marco Tartaglia, Bernd Wollnik, Raoul C Hennekam
Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard." In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely...
April 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28442882/comparative-analysis-of-immunopathological-features-of-lichen-planopilaris-and-female-patients-with-frontal-fibrosing-alopecia
#4
Emanuella Rd Cerqueira, Neusa Valente, Mírian Nacagami Sotto, Ricardo Romiti
BACKGROUND: Frontal fibrosing alopecia (FFA) is a disorder characterized by progressive cicatricial alopecia (CA). Its classification as a clinical variant of lichen planopilaris (LPP) or as a unique disorder is controversial. The presence of Langerhans cells within the bulge area and the sebaceous epithelium and the presence of lymphocytic infiltrate in this area in CA have led to a series of hypotheses, although limited, about their development. To our knowledge, scarce is the literature demonstrating immunoanalytical studies comparing both disorders...
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28442872/olmsted-syndrome-in-a-family
#5
Rajyalaxmi Konathan, Sainath Kumar Alur
Olmsted syndrome (OS) is a rare disorder characterized by the combination of periorificial, keratotic plaques, and bilateral palmoplantar keratoderma. Synonyms are mutilating palmoplantar keratoderma with periorificial keratotic plaques (ORPHA659, MIM #614594 and #300918). A number sign (#) is used with this entry because of evidence that mutilating palmoplantar keratoderma with periorificial keratotic plaques (OS) is caused by heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. We report three cases of OS, two females and one male in the same family, who presented with palmoplantar keratoderma, sparse scalp hair, cheilitis, and periorificial fissures...
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28442870/serum-vitamin-d3-levels-and-diffuse-hair-fall-among-the-student-population-in-south-india-a-case-control-study
#6
Kashinath Nayak, Aaina Garg, Prasanna Mithra, Poornima Manjrekar
INTRODUCTION AND AIMS: Hair fall is a common problem faced by many younger people, which has variety of risk factors. Vitamin D3 has emerged as a molecule with key role to play in various disorders. This study was done to assess its role in diffuse hair fall among student population. MATERIALS AND METHODS: This was a case-control study including young adults presenting with complaints of hair fall (>100 a day) as cases, with age-matched healthy controls. Vitamin D3 levels were measured in all the patients...
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#7
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28440070/chiral-analysis-of-amphetamines-in-hair-by-liquid-chromatography-tandem-mass-spectrometry-compliance-monitoring-of-attention-deficit-hyperactivity-disorder-adhd-patients-under-elvanse%C3%A2-therapy-and-identification-after-controlled-low-dose-application
#8
Tina M Binz, Elena Williner, Petra Strajhar, Patrick C Dolder, Matthias E Liechti, Markus R Baumgartner, Thomas Kraemer, Andrea E Steuer
Amphetamine (AMP) is used as illicit drug but also for the treatment of attention deficit hyperactivity disorder (ADHD). Respective drugs most often contain the enantiomer (S)-AMP as active compound or (S)-AMP is formed from the prodrug lisdexamfetamine (Elvanse®) whereas the illicit drug is usually traded as racemate ((R/S)-AMP). A differentiation between the use of the medically prescribed drug and the abuse of illicit street amphetamine is of great importance e.g. in retrospective consumption monitoring by hair analysis...
April 24, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28435477/acrodermatitis-enteropathica-in-a-pair-of-twins
#9
Abdullatif Al Rashed, Mohja Al Shehri, Feroze Kaliyadan
BACKGROUND: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation...
December 31, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#10
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28425126/novel-sequence-variants-in-the-liph-and-lpar6-genes-underlies-autosomal-recessive-woolly-hair-hypotrichosis-in-consanguineous-families
#11
Farooq Ahmad, Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad
Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p...
April 19, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28424967/disparities-of-selected-metal-levels-in-the-blood-and-scalp-hair-of-ischemia-heart-disease-patients-and-healthy-subjects
#12
Asim Ilyas, Munir H Shah
Imbalances in the concentrations of trace metals have become an increasingly recognized source of infirmity worldwide particularly in the development of ischemia heart disease (IHD). Present study is intended to analyze the concentrations of Ca, Cd, Co, Cr, Cu, Fe, K, Li, Mg, Mn, Na, Pb, Sr, and Zn in the blood and scalp hair of the patients and counterpart controls by flame atomic absorption spectrometry after wet-acid digestion. On the average, Cd, Co, Cr, Fe, K, Li, Mn, Na, and Pb revealed significantly elevated concentrations in the blood of the patients compared with the controls (p < 0...
April 20, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28424304/giant-axonal-neuropathy-alters-the-structure-of-keratin-intermediate-filaments-in-human-hair
#13
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/28421255/-tropical-dermatology-relevant-disorders-of-the-scalp
#14
REVIEW
A Montag
People whose ancestors came from tropical regions present specific structural characteristics of their skin and hair, including the scalp region. On the one hand, this is for protection against the challenges of these climatic zones; on the other hand, this may lead to an enhanced sensitivity against certain dermatological diseases, either of autoimmune, chronic inflammatory, infectious, or of mechanical origin. A collection of these are discussed in this article.
April 18, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28413388/a-case-report-of-cushing-s-disease-presenting-as-hair-loss
#15
Emily G Lefkowitz, Jack P Cossman, John B Fournier
Cushing's syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing's syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing's disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28408350/neuroactive-steroid-levels-and-psychiatric-and-andrological-features-in-post-finasteride-patients
#16
Roberto Cosimo Melcangi, Daniele Santi, Roberto Spezzano, Maria Grimoldi, Tommaso Tabacchi, Maria Letizia Fusco, Silvia Diviccaro, Silvia Giatti, Giuseppe Carrà, Donatella Caruso, Manuela Simoni, Guido Cavaletti
Recent reports show that, in patients treated with finasteride for male pattern hair loss, persistent side effects including sexual side effects, depression, anxiety and cognitive complaints may occur. We here explored the psychiatric and andrological features of patients affected by post-finasteride syndrome (PFS) and verified whether the cerebrospinal fluid (CSF) and plasma levels of neuroactive steroids (i.e., important regulators of nervous function) are modified. We found that eight out of sixteen PFS male patients considered suffered from a DSM-IV major depressive disorder (MDD)...
April 10, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28405549/cutaneous-manifestations-of-polycystic-ovary-syndrome-a-cross-sectional-clinical-study
#17
Mohammad Abid Keen, Iffat Hassan Shah, Gousia Sheikh
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women, affecting 5-10% of reproductive-aged women. The dermatologic manifestations of hyperandrogenism, chiefly hirsutism, acne vulgaris, androgenic alopecia, and acanthosis nigricans, are among the cardinal manifestations of PCOS. AIM: To study the incidence and prevalence of various cutaneous manifestations in patients with PCOS and to correlate these skin manifestations with hormonal changes...
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28403827/a-novel-mutation-in-homeobox-dna-binding-domain-of-hoxc13-gene-underlies-pure-hair-and-nail-ectodermal-dysplasia-ectd9-in-a-pakistani-family
#18
Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan, Saadullah Khan
BACKGROUND: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet. METHODS: In this study, a four generations consanguineous family of Pakistani origin with autosomal recessive PHNED was investigated...
April 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28396101/the-effectiveness-of-treatments-for-androgenetic-alopecia-a-systematic-review-and-meta-analysis
#19
REVIEW
Areej Adil, Marshall Godwin
BACKGROUND: Androgenetic alopecia, or male pattern hair loss, is a hair loss disorder mediated by dihydrotestosterone, the potent form of testosterone. Currently, minoxidil and finasteride are Food and Drug Administration (FDA)-approved, and HairMax LaserComb, which is FDA-cleared, are the only treatments recognized by the FDA as treatments of androgenetic alopecia. OBJECTIVE: This systematic review and meta-analysis assesses the efficacy of nonsurgical treatments of androgenetic alopecia in comparison to placebo for improving hair density, thickness, growth (defined by an increased anagen:telogen ratio), or subjective global assessments done by patients and investigators...
April 7, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28387217/defective-gpsm2-g%C3%AE-i3-signalling-disrupts-stereocilia-development-and-growth-cone-actin-dynamics-in-chudley-mccullough-syndrome
#20
Stephanie A Mauriac, Yeri E Hien, Jonathan E Bird, Steve Dos-Santos Carvalho, Ronan Peyroutou, Sze Chim Lee, Maite M Moreau, Jean-Michel Blanc, Aysegul Geyser, Chantal Medina, Olivier Thoumine, Sandra Beer-Hammer, Thomas B Friedman, Lukas Rüttiger, Andrew Forge, Bernd Nürnberg, Nathalie Sans, Mireille Montcouquiol
Mutations in GPSM2 cause Chudley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized by early-onset sensorineural deafness and brain anomalies. Here, we show that mutation of the mouse orthologue of GPSM2 affects actin-rich stereocilia elongation in auditory and vestibular hair cells, causing deafness and balance defects. The G-protein subunit Gαi3, a well-documented partner of Gpsm2, participates in the elongation process, and its absence also causes hearing deficits. We show that Gpsm2 defines an ∼200 nm nanodomain at the tips of stereocilia and this localization requires the presence of Gαi3, myosin 15 and whirlin...
April 7, 2017: Nature Communications
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