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Philip D Shenefelt
Mindfulness-based cognitive hypnotherapy integrates mindfulness, cognitive-behavioral therapy, and hypnotherapy to improve physical, emotional, mental, and/or spiritual aspects of skin disorders. Meditation, including mindfulness meditation, and hypnosis both utilize trance phenomena to help produce focalization and specific improvements in skin disorders through psycho-neuro-endocrine-immunologic mechanisms. Hypnosis, cognitive hypnotherapy, focused meditation, and mindfulness meditation are discussed with respect to improving various skin disorders including acne, acne excoriée, alopecia areata, atopic dermatitis, congenital ichthyosiform erythroderma, dyshidrotic dermatitis, erythema nodosum, erythromelalgia, furuncles, glossodynia, herpes simplex, hyperhidrosis, ichthyosis vulgaris, lichen planus, neurodermatitis, nummular dermatitis, postherpetic neuralgia, prurigo nodularis, pruritus, psoriasis, rosacea, trichotillomania, urticaria, verruca vulgaris, and vitiligo...
July 2018: American Journal of Clinical Hypnosis
Nermine El-Sayed, Neveen S Seifeldin, Christine K T Gobrial
Introduction: Inherited ichthyoses are caused by mutations in various genes important for keratinocyte differentiation and epidermal barrier function. Although ichthyoses are rare disorders, they require costly long-term medical management, and thus there is a need for efficient preventive and therapeutic strategies. Aim: We performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors of primary hereditary ichthyoses in Egyptian patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University...
April 2018: Postȩpy Dermatologii i Alergologii
Jingyao Liang, Pingjiao Chen, Huiheng Chen, Xin Tian, Zhenguang Wu, Sanqan Zhang, Changxing Li, Xibao Zhang
Long-term systemic treatment with acitretin for severe hyperkeratotic disorders is needed to maintain quality of life of afflicted patients, but treatment has been limited owing to its potential side-effects including skeletal malformations, particularly for children during their growth and development. A retrospective investigation was conducted with three children afflicted with a severe hyperkeratotic disorder, namely Darier's disease, bullous ichthyosiform erythroderma or lamellar ichthyosis, who were continuously maintained on 0...
May 14, 2018: Journal of Dermatology
Diana Bartenstein, Hye Jin Chung, Sadaf Hussain
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis that typically results from mutations of the GJB2 gene or, less commonly, the GJB6 gene. Patients with KID syndrome are at higher risk of malignancy and infections. Here, we present 2 patients with KID syndrome who developed verrucous plaques. Given that patients with KID syndrome are at high risk of developing squamous cell carcinoma, biopsies were performed. Both cases revealed histologic findings of marked papillomatous epidermal hyperplasia with numerous fungal spores and pseudohyphae in the stratum corneum...
May 3, 2018: American Journal of Dermatopathology
Lisa Graziano, Mauro Vasconi, Luisa Cornegliani
A non-epidermolytic ichthyosis has been identified in Golden Retrievers due to a variant in the PNPLA1 gene, and a genetic test is available to detect wild-type, heterozygous and homozygous dogs. The aims of this study were to investigate the prevalence of the PNPLA1 gene variant in Golden Retrievers used for breeding and to provide more information to breeders in order to restrict the spread of this disease. Clinical examination and assessment of the PNPLA1 genotype using PCR testing of oral swabs were performed in 48 breeding Golden Retrievers...
May 8, 2018: Veterinary Sciences
Céline Khalifa, Geoffrey Boliaki Botombe, Xavier Stephenne, Francis Veyckemans
We report for the first time the anesthetic management of 2 sisters suffering from neonatal ichthyosis and sclerosing cholangitis syndrome. They both presented with neonatal cholestatic jaundice and ichthyosis. The first was admitted for orthotopic liver transplantation at the age of 1 year, and the second patient underwent open pyeloplasty for a pyeloureteric junction syndrome at the age of 4 years. These 2 case reports highlight that, except for the potential difficulties with securing the catheters, dressings and endotracheal tube to the skin, the anesthetic implications of neonatal ichthyosis and sclerosing cholangitis syndrome are mainly related to the liver disease: cirrhosis and portal hypertension...
May 7, 2018: A&A practice
Christian Thiel, Saskia Wortmann, Korbinian Riedhammer, Bader Alhaddad, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier
Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of infantile ichthyosis disorders.
May 2, 2018: Journal of Inherited Metabolic Disease
Kriti Damodaran, Alok Bhutada, Shantanu Rastogi
Harlequin ichthyosis is a rare form of congenital ichthyosis with a distinct phenotypic appearance. We describe a case of a newborn baby with harlequin ichthyosis who was treated with an oral formulation of acitretin. The treatment resulted in a satisfactory improvement in the skin condition of the patient. The tolerance to the drug was good with no side effects in the patient. The aim of this case report is to highlight an extemporaneous preparation of acitretin from the commonly available capsule form, which is effective for use in neonates with harlequin ichthyosis...
March 2018: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
Jan Cezary Sitek, Else Merckoll, Per Arne Tølløfsrud
No abstract text is available yet for this article.
April 18, 2018: JAMA Dermatology
Seçil Vural, Atay Vural, Fulya Akçimen, Işın S Bağci, Ceren Tunca, Asli Gündoğdu Eken, Thomas Ruzicka, A Nazli Başak
INTRODUCTION: Sjögren-Larsson syndrome (SLS) is a rare congenital disorder characterized by the triad of ichthyosis, spasticity, and mental retardation. Patients are usually referred to dermatology clinics during infancy. As paraplegia becomes the most debilitating symptom of the disease within a few years, ichthyosis, although a major burden for the patient, takes a back seat. Optimum treatment of ichthyosis in these children and the effect of treatment on different aspects such as severity of the ichthyosis, pruritus, or quality of life of the patients' and their caregivers is not well established...
April 27, 2018: International Journal of Dermatology
Andrea Diociaiuti, Enrico Rosati, Maria Giovanna Paglietti, Paola Vacca, Renata Boldrini, Elisa Pisaneschi, Daniele Castiglia, Antonio Novelli, Maya El Hachem
No abstract text is available yet for this article.
April 27, 2018: Acta Dermato-venereologica
Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino
Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the affected skin, whereas epidermolysis and clumping of tonofilaments, as seen in EI, are absent. While IH-CM is associated with mutations in the keratin 1 (KRT1) gene, reports to date have indicated that mutations in the KRT1 gene result in an aberrant and truncated protein tail, essentially affecting the function of the V2 domain...
2018: PloS One
Mehak Singh, Manoj Pawar
Eyelash trichomegaly (ET) is increased length (≥ 12 mm), curling, pigmentation, or thickness of eyelashes. Among acquired causes, allergic diseases and atopic dermatitis (AD) have been found to be associated with eyelash trichomegaly especially in children; however, to date, this claim has not been studied in detail. To compare the eyelash lengths of AD and ichthyosis vulgaris (IV) patients with those of age- and sex-matched patients with unrelated skin disorders, we measured (with a digital Vernier caliper) and compared the eyelash lengths of AD (n = 58) and IV (n = 31) patients to those of age- and sex-matched patients with unrelated skin disorders (n = 178)...
April 19, 2018: European Journal of Pediatrics
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Viola Alesi, Giovanna Zambruno, Antonio Novelli, May El Hachem
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis...
April 19, 2018: Experimental Dermatology
Tali Czarnowicki, Helen He, Alexandra Leonard, Kunal Malik, Shai Magidi, Stephanie Rangel, Krishna Patel, Kara Ramsey, Morgan Murphrey, Teresa Song, Yeriel Estrada, Hue-Chi Wen, James G Krueger, Emma Guttman-Yassky, Amy S Paller
The ichthyoses are rare skin disorders with immune and barrier aberrations. Identifying blood phenotypes may advance targeted-therapeutics.We aimed to compare frequencies of skin homing/CLA+ vs. systemic/CLA- "polar" CD4+ /CD8+ and activated T-cell subsets in ichthyosis vs. atopic dermatitis/AD, psoriasis and control blood, with appropriate clinical correlations. Flow cytometry was used to measure IFN-γ, IL-13, IL-9, IL-17, and IL-22 cytokines in CD4+ /CD8+ T-cells, with ICOS and HLA-DR defining mid- and long-term T-cell activation, respectively...
April 13, 2018: Journal of Investigative Dermatology
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Özlem Hergüner, Serdar Ceylaner, Ferda Özkınay, Sebile Kılavuz, Neslihan Önenli-Mungan
Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre...
April 14, 2018: Metabolic Brain Disease
Rui Han, Ling Duan, Shuang Wu, Xiaoran Liu
OBJECTIVE: To explore the genetic cause for a Uyghur Chinese child with collodion skin. METHODS: G-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child. RESULTS: No karyotypic abnormality was found in the child and his parents. High-throughput sequencing has detected in the patient a previously described pathogenic mutation c...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Kevin Chao, Maria Aleshin, Zachary Goldstein, Scott Worswick, Marcia Hogeling
The term, autosomal recessive congenital ichthyosis (ARCI), describes a group of rare genetic skin diseases of cornification involving hyperkeratotic scaling at birth. The defective skin barrier function may lead to dehydration, body temperature instability, and high susceptibility to infections. In most cases of ARCI, neonates are born with a collodion membrane covering the body, often presenting with ectropion and eclabium. We report a premature female neonate presenting with hyperkeratotic scaling at birth without a collodion membrane...
February 15, 2018: Dermatology Online Journal
Giuliana Onnis, Christine Chiaverini, Geoffroy Hickman, Isabelle Dreyfus, Judith Fischer, Emmanuelle Bourrat, Juliette Mazereeuw-Hautier
BACKGROUND: Acitretin is the main retinoid used to treat severe inherited ichthyosis. Alternatives may be considered if it results ineffective or there are side-effects, or for women of childbearing age. Our objective is evaluation of the effects and tolerance of alitretinoin. An observational retrospective multicentric study was designed to analyse patients with inherited ichthyosis treated by alitretinoin. RESULTS: A total of 13 patients were included, 11 of whom were receiving acitretin at inclusion...
April 4, 2018: Orphanet Journal of Rare Diseases
Farooq Ahmad, Ishtaiq Ahmed, Abdul Nasir, Muhammad Umair, Shaheen Shahzad, Dost Muhammad, Regie Lyn P Santos-Cortez, Suzanne M Leal, Wasim Ahmad
Autosomal recessive ichthyosis with hypotrichosis (ARIH; MIM 602400) syndrome is characterized by diffused congenital ichthyosis and generalized non-scarring hypotrichosis. The underlying genetic cause of ARIH syndrome has been associated with sequence variants of the gene ST14, encoding type II transmembrane serine protease matriptase, which maps to chromosome 11q24.3. The current report aimed to investigate the clinical features and genetic cause of ARIH syndrome in a large consanguineous family of Pakistani origin...
March 27, 2018: European Journal of Dermatology: EJD
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