Coexistence of X ‐linked ichthyosis and Nagashima‐type palmoplantar keratosis: A case report
The Journal of Dermatology, EarlyView. (Source: The Journal of Dermatology)
Source: The Journal of Dermatology - July 13, 2018 Category: Dermatology Authors: Yoshihiro Matsudate , Mariko Niki , Yasutoshi Hida , Yoshiaki Kubo Source Type: research

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability
Publication date: Available online 7 May 2018Source: Molecular Genetics and MetabolismAuthor(s): C.R. Ferreira, S.M.I. Goorden, A. Soldatos, H.M. Byers, J.M.M. Ghauharali-van der Vlugt, F.S. Beers-Stet, C. Groden, C.D. van Karnebeek, W.A. Gahl, F.M. Vaz, X. Jiang, H.J. VernonAbstractPatients with primary serine biosynthetic defects manifest with intellectual disability, microcephaly, ichthyosis, seizures and peripheral neuropathy. The underlying pathogenesis of peripheral neuropathy in these patients has not been elucidated, but could be related to a decrease in the availability of certain classical sphingolipids, or to an...
Source: Molecular Genetics and Metabolism - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Publication date: June 2018Source: Dermatologica Sinica, Volume 36, Issue 2Author(s): Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta NagyAbstractAutosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene. Here we report a Hungarian pedigree affected by the lamellar ichthyosis clinical form of the ARCI1 phenotype. Direct sequencing revealed two recurrent heterozygous mutations: a splice site (c.877-2A > G) and a missense (c.1135G&nbs...
Source: Dermatologica Sinica - July 10, 2018 Category: Dermatology Source Type: research

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability
Publication date: Available online 7 May 2018Source: Molecular Genetics and MetabolismAuthor(s): C.R. Ferreira, S.M.I. Goorden, A. Soldatos, H.M. Byers, J.M.M. Ghauharali-van der Vlugt, F.S. Beers-Stet, C. Groden, C.D. van Karnebeek, W.A. Gahl, F.M. Vaz, X. Jiang, H.J. VernonAbstractPatients with primary serine biosynthetic defects manifest with intellectual disability, microcephaly, ichthyosis, seizures and peripheral neuropathy. The underlying pathogenesis of peripheral neuropathy in these patients has not been elucidated, but could be related to a decrease in the availability of certain classical sphingolipids, or to an...
Source: Molecular Genetics and Metabolism - July 5, 2018 Category: Genetics & Stem Cells Source Type: research

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Publication date: June 2018Source: Dermatologica Sinica, Volume 36, Issue 2Author(s): Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta NagyAbstractAutosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene. Here we report a Hungarian pedigree affected by the lamellar ichthyosis clinical form of the ARCI1 phenotype. Direct sequencing revealed two recurrent heterozygous mutations: a splice site (c.877-2A > G) and a missense (c.1135G&nbs...
Source: Dermatologica Sinica - July 5, 2018 Category: Dermatology Source Type: research

X ‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients
Experimental Dermatology, EarlyView. (Source: Experimental Dermatology)
Source: Experimental Dermatology - July 3, 2018 Category: Dermatology Authors: Andrea Diociaiuti , Adriano Angioni , Elisa Pisaneschi , Viola Alesi , Giovanna Zambruno , Antonio Novelli , May El Hachem Source Type: research

Trichothiodystrophy without associated neuroectodermal features in two siblings
Jasleen Kaur, Mala Bhalla, Gurvinder Pal ThamiInternational Journal of Trichology 2018 10(3):135-137 Trichothiodystrophy (TTD) is characterized by the common feature of sulfur-deficient brittle hair associated with a constellation of neuroectodermal symptoms. There is a wide phenotypic variation in the severity; ranging from isolated hair defect to multiple neuroectodermal symptoms such as photosensitivity, ichthyosis, intellectual impairment, decreased fertility, and short stature. This case report describes TTD in two sisters with only hair fragility and no other associated feature. This case highlights the variable cli...
Source: International Journal of Trichology - June 20, 2018 Category: Dermatology Authors: Jasleen Kaur Mala Bhalla Gurvinder Pal Thami Source Type: research

Ichthyosis, atopic dermatitis, and alopecia
International Journal of Dermatology, EarlyView. (Source: International Journal of Dermatology)
Source: International Journal of Dermatology - June 16, 2018 Category: Dermatology Authors: V íctor A. González‐Delgado MD , Zaira Pellicer‐Oliver MD , Clara Alfaro‐Cervelló MD , Jose M. Martín MD, PhD Source Type: research

Management of congenital ichthyoses: European guidelines of care: Part Two.
This article is protected by copyright. All rights reserved. PMID: 29897631 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - June 13, 2018 Category: Dermatology Authors: Mazereeuw-Hautier J, Hernandez-Martin A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljc M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Ma Tags: Br J Dermatol Source Type: research

A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.
Abstract Neu-Laxova syndrome (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, facial dysmorphic features, anomalies of limb and genitalia, intrauterine growth retardation, skin disorders, and other congenital abnormalities. In this article, we present a newborn infant who was born with facial dysmorphic features, flat nose, ichthyosis, rocker bottom feet, and fixed flexion contractures. We believe that these clinical findings in this patient are consistent with features of NLS. PMID: 29862217 [PubMed] (Source: Biomed Res)
Source: Biomed Res - June 6, 2018 Category: Research Authors: Barekatain B, Sadeghnia A, Rouhani E, Soofi GJ Tags: Adv Biomed Res Source Type: research

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications
Mutations in ABCA12 can cause various autosomal recessive congenital ichthyoses (ARCI) phenotypes: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). The severity of mutations affecting this gene correlateswith the clinical phenotype developed by the patient. Generally, truncating mutations affecting both alleles or deletions in highly conserved areas of the protein cause HI phenotypes. By contrast, missense mutations that impact protein function less severely result in LI or CIE. (Source: Journal of Dermatological Science)
Source: Journal of Dermatological Science - June 5, 2018 Category: Dermatology Authors: Uxia Esper ón-Moldes, Manuel Ginarte, Laura Rodríguez-Pazos, Laura Fachal, Tomás Pozo, Jesús Luelmo Aguilar, Javier del Boz González, Ana Vega, Ana Martín Santiago Tags: Letter to the Editor Source Type: research

Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family
Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene. With the development of ultrasound skills and genetic analysis, HI could be prenatal diagnosed. (Source: Taiwanese Journal of Obstetrics and Gynecology)
Source: Taiwanese Journal of Obstetrics and Gynecology - June 1, 2018 Category: OBGYN Authors: Wei Jian, Qi-Ting Du, Zhen-Fei Lai, Yu-Fan Li, Shi-Quan Li, Zhong-Tang Xiong, Dun-Jin Chen, Min Chen, Jing-Si Chen Tags: Case Report Source Type: research

Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.
Abstract Lympho-epithelial Kazal-type-related inhibitor (LEKTI) is a large multidomain serine protease inhibitor that is expressed in epidermal keratinocytes. Nonsense mutations of the SPINK5 gene, which codes for LEKTI, cause Netherton syndrome, which is characterized by hair abnormality, ichthyosis, and atopy. A single nucleotide polymorphism (SNP) of SPINK5, p.K420E, is reported to be associated with the pathogenesis of atopic dermatitis (AD). We studied all 34 exons of the SPINK5 gene in Japanese 57 AD patients and 50 normal healthy controls. We detected nine nonsynonymous variants, including p.K420E; these va...
Source: Acta Med Okayama - June 1, 2018 Category: Universities & Medical Training Authors: Morizane S, Ouchida M, Sunagawa K, Sugimoto S, Kobashi M, Sugihara S, Nomura H, Tsuji K, Sato A, Miura Y, Hattori H, Tada K, Huh WK, Seno A, Iwatsuki K Tags: Acta Med Okayama Source Type: research

Sterol profiles are valuable biomarkers for phenotype expression of Conradi-H ünermann-Happle syndrome with EBP mutations.
This article is protected by copyright. All rights reserved. PMID: 29851033 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - May 31, 2018 Category: Dermatology Authors: Takeichi T, Honda A, Okuno Y, Kojima D, Kono M, Nakamura Y, Tohyama M, Tanaka T, Aoyama Y, Akiyama M Tags: Br J Dermatol Source Type: research

Ichthyosis molecular fingerprinting shows profound Th17-skewing and a unique barrier genomic signature
DNA alterations are progressively understood in ichthyoses. However, comprehensive phenotyping could direct much-needed targeted therapeutics. Our molecular fingerprinting highlights IL-17/IL-36 responses and unique associated barrier alterations in ichthyoses, advocating for IL-17/IL-36-directed antagonism for these patients. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - May 24, 2018 Category: Allergy & Immunology Authors: Kunal Malik, Helen He, Thy Nhat Huynh, Gary Tran, Kelly Mueller, Kristina Doytcheva, Yael Renert-Yuval, Tali Czarnowicki, Shai Magidi, Margaret Chu, Yeriel D. Estrada, Huei-Chi Wen, Xiangyu Peng, Hui Xu, Xiuzhong Zheng, James G. Krueger, Amy S. Paller, Em Source Type: research

Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature
Ichthyoses are a group of rare skin disorders lacking effective treatments. Although genetic mutations are progressively delineated, comprehensive molecular phenotyping  of ichthyotic skin could suggest much-needed pathogenesis-based therapy. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - May 24, 2018 Category: Allergy & Immunology Authors: Kunal Malik, Helen He, Thy Nhat Huynh, Gary Tran, Kelly Mueller, Kristina Doytcheva, Yael Renert-Yuval, Tali Czarnowicki, Shai Magidi, Margaret Chou, Yeriel D. Estrada, Huei-Chi Wen, Xiangyu Peng, Hui Xu, Xiuzhong Zheng, James G. Krueger, Amy S. Paller, E Source Type: research

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B KurbetIndian Journal of Ophthalmology 2018 66(6):856-858 Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctiva...
Source: Indian Journal of Ophthalmology - May 22, 2018 Category: Opthalmology Authors: Shivanand C Bubanale Linda Maria Genoveva De Piedade Sequeira Bhagyajyothi B Kurbet Source Type: research

Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study.
zis P Abstract BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) in golden retrievers is due to a PNPLA1 gene mutation, which plays a role in epidermal lipid organization and metabolism. Topical therapies are used to reduce scaling; however, there are few published efficacy studies. OBJECTIVES: To examine the efficacy of topical treatment based on gluconolactone, a polyhydroxy acid with known beneficial effects on stratum corneum structure. ANIMALS: Sixteen golden retriever dogs with clinical signs of ARCI and PCR-confirmed PNPLA1 gene mutation. METHODS: This was a prospective, multicentr...
Source: Veterinary Dermatology - May 22, 2018 Category: Veterinary Research Authors: Puigdemont A, Furiani N, De Lucia M, Carrasco I, Ordeix L, Fondevila D, Ramió-Lluch L, Brazis P Tags: Vet Dermatol Source Type: research

Mindfulness-Based Cognitive Hypnotherapy and Skin Disorders.
Abstract 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, ...
Source: The American Journal of Clinical Hypnosis - May 18, 2018 Category: Complementary Medicine Authors: Shenefelt PD Tags: Am J Clin Hypn Source Type: research

Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo
We report a complex case of PCT in a 67-year-old woman with an unusual constellation of cutaneous findings: scleroderma, acquired ichthyosis, and nonscarring alopecia. Possible triggers for her PCT include tamoxifen treatment for breast cancer and carrier status of the hemochromatosis gene. High-dose chloroquine was used to successfully achieve clinical remission and normalize her uroporphyrins. While on chloroquine she developed extensive classic vitiligo. It is not clear if this is another feature of her complex and unusual PCT, or a consequence of her antimalarial therapy.Case Rep Dermatol 2018;10:115 –121 (Source...
Source: Case Reports in Dermatology - May 17, 2018 Category: Dermatology Source Type: research

Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children —a case control study
Conclusion: Thus, long eyelashes may act as surrogate marker of severe AD and serve as a cutaneous marker of IV patients.What is Known:•Among acquired causes, allergic diseases and atopic dermatitis have been found to be associated with eyelash trichomegaly especially in children.What is New:•The severity of atopic dermatitis, i.e.,SCORAD of  >  50, hyperlinearity of palms and soles, and high IgE levels significantly correlate with the long eyelashes; thus, long eyelashes may act as surrogate marker of severe atopic dermatitis.•It may also serve as a cutaneous marker of ichthyosis vulgaris e...
Source: European Journal of Pediatrics - May 17, 2018 Category: Pediatrics Source Type: research

High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt.
Conclusions: To the best of our knowledge, this preliminary study is the first report on the clinico-epidemiological features of primary hereditary ichthyoses in Egypt. The high rate of prenatal consanguinity among parents of our patients may account for the high frequency of these genodermatoses in Egypt. This highlights the importance of genetic counselling and prenatal diagnosis in Egypt. PMID: 29760616 [PubMed] (Source: Advances in Dermatology and Allergology)
Source: Advances in Dermatology and Allergology - May 17, 2018 Category: Dermatology Tags: Postepy Dermatol Alergol Source Type: research

Neuro-ichthyotic syndromes: A case series
Conclusions: Because biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Detailed skin and physical examinations are mandatory in these patients. Genetic tests are necessary for accurate diagnosis. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - May 16, 2018 Category: Neuroscience Authors: Faruk Incec & #305;k Ozlem M Herguner Mehmet N Ozbek Serdal Gungor Mustafa Y & #305;lmaz Wiliam B Rizzo G & #252;len G Mert Source Type: research

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability
Publication date: Available online 7 May 2018 Source:Molecular Genetics and Metabolism Author(s): C.R. Ferreira, S.M.I. Goorden, A. Soldatos, M. Byers, J.M.M. Ghauharali-van der Vlugt, F.S. Beers-Stet, C. Groden, C.D. van Karnebeek, W.A. Gahl, F.M. Vaz, X. Jiang, H.J. Vernon Patients with primary serine biosynthetic defects manifest with intellectual disability, microcephaly, ichthyosis, seizures and peripheral neuropathy. The underlying pathogenesis of peripheral neuropathy in these patients has not been elucidated, but could be related to a decrease in the availability of certain classical sphingolipids, or to an increa...
Source: Molecular Genetics and Metabolism - May 15, 2018 Category: Genetics & Stem Cells Source Type: research

Severe ichthyosis in MPDU1-CDG
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. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 2, 2018 Category: Internal Medicine Source Type: research

Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis
Ichthyosis is a cutaneous disorder characterized by excessive amounts of dry thickened skin surface scales. Ocular manifestations of ichthyosis include cicatricial ectropion, which may cause exposure keratoconjunctivitis and rarely corneal perforation. Topical emollients, anti-inflammatory ointments, and systemic retinoids have been used to control the disease process, while surgical correction with donor graft has been reserved for severe cases involving corneal exposure. The authors report a case of a Caucasian male with lamellar ichthyosis with severe bilateral upper and lower eyelid cicatricial ectropion and corneal ul...
Source: Ophthalmic Plastic and Reconstructive Surgery - May 1, 2018 Category: Opthalmology Tags: Case Reports Source Type: research

283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population
Autosomal recessive congenital ichthyosis (ARCI) refers to a heterogeneous group of disorders characterized by generalized scaling and erythema. We ascertained a cohort of 60 Middle-Eastern families with ARCI. Pathogenic mutations were found in TGM1 (20%), CYP4F22 (19%), ALOX12B (14%), ABCA12 (11%), ALOXE3 (5%), NIPAL4 (4%), PNPLA1 (3%), LIPN (2%), SDR9C7 (2%) and SULT2B1 (2%). In 20 % of the cases, no mutation was found. Our cohort revealed a higher prevalence of CYP4F22 (15%) and ABCA12 (11%) mutations and a lower prevalence of TGM1 (20%) and NIPAL4 (4%) mutations, as compared with other regions of the world. (Source: Jo...
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: J. Mohamad, L. Samuelov, N. Malchin, S. Tiaber, T. Rabinowitz, O. Bitterman-Deutsch, V. Molho-Pessach, E. Cohen-Barak, G. Bach, B. Garty, R. Bergman, A. Harel, A. Nanda, G. Lestringant, J. McGrath, S. Shalev, N. Shomron, J. Mashiach, M. Eskin-Schwartz, O. Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

258 National survey of quality of life and disease severity in patients with congenital ichthyosis
We examined the relationship between disease severity and QOL in patients with CI, especially in patients with harlequin ichthyosis (HI) and ichthyosis: syndromic forms (Netherton syndrome, Sj ögren-Larsson syndrome, Dorfman-Chanarin syndrome, keratitis-ichthyosis-deafness syndrome, and trichothiodystrophy). Patients with HI or ichthyosis: syndromic forms who were aged 8 years or older and who participated in a multicenter retrospective questionnaire survey in Japan were assessed by derm atology life quality index (DLQI, range of 0-30) and CI disease severity score (range of 0-100). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: C. Murase, T. Takeichi, A. Shibata, M. Nakatochi, F. Kinoshita, S. Ikeda, M. Kurosawa, M. Akiyama Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

726 Novel CYP26B1-selective inhibitor increases measures of epidermal barrier function in healthy, darier ’s, and ichthyotic econstructed human epidermis
The skin barrier, primarily by the stratum granulosum and stratum corneum of the epidermis, functions as our primary protection from dangerous pathogens, allergens, UV radiation, and mechanical injury, and plays a vital role in fluid and thermal regulation. This barrier is disrupted in several skin disorders ranging from atopic dermatitis, to rare genetic disorders, such as Darier ’s disease and ichthyosis. Current treatment options do not adequately address patient needs, presenting significant efficacy or tolerability concerns. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: J. Veit, D. Mendes, V. De Glas, B. Balau, F. Astruc-Diaz, H. Liu, K. Bagnowski, A. Paller, Y. Poumay, P. Diaz Tags: Epidermal Structure and Barrier Function Source Type: research

661 Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis
Mutations in the ABCA12 gene cause Harlequin Ichthyosis (HI), the most severe ARCI, with a defective skin barrier. The aim of this study was to identify essential pathways involved in HI pathomechanisms, responsible for aberrant epidermal differentiation. We performed RNA-seq on calcium-induced primary keratinocytes with siRNA knockdown of ABCA12 and identified 118 genes significantly down-regulated and 36 genes significantly up-regulated. Functional annotation clustering analysis showed changes in epidermal differentiation, fatty acid metabolism, cytokine and interferon signaling. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: F. Enjalbert, P. Dewan, M.P. Caley, B. Fell, M. Morse, D. Kelsell, A. Enright, E.A. O'Toole Tags: Epidermal Structure and Barrier Function Source Type: research

655 Origin and functions of the corneocyte lipid envelope
The -hydroxyceramide (-OH-Cer)-enriched, corneocyte lipid envelope (CLE) lies external to the cornified envelope (CE), but neither its functions nor origin are known. To address its functions, we assessed biopsies from recessive congenital ichthyosis (ARCI) patients and animals with compromised -OH-Cer generation. While both CLEs and CEs were attenuated, topical acylCer applications to ichthyin-deficient canines and transgenic rescue of fatp4 knockout mice restored both CLEs and CEs. The CLE also is required for lamellar membrane formation, because secreted lamellar body (LB)-derived lipids fail to transform into lamellar ...
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: D. Crumrine, D. Khnykin, P. Krieg, M. Man, A. Celli, T. Mauro, G. Menon, E. Mauldin, J. Miner, A. Brash, E. Sprecher, F. Radner, K. Choate, D.R. Roop, Y. Uchida, R. Gruber, M. Schmuth, P. Elias Tags: Epidermal Structure and Barrier Function Source Type: research

380 Ichthyosis has a moderate impact on quality of life in adults
Ichthyoses are a heterogeneous family of hereditary skin disorders characterized by dry, scaly, and frequently severely red skin. Analyzing quality of life (QoL) in those with ichthyosis is essential to understand disease natural history and assess treatment efficacy. To date, little research has been conducted in this field since ichthyosis is a rare disorder with a paucity of genetic and clinical data. Subjects older than 16 were recruited from the National Registry for Ichthyosis and Related Skin Types. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: I. Ren, B. Olamiju, L. Li, Y. Deng, N. Marukian, T. Zaki, J. Zhou, R. Hu, L. Milstone, K. Choate Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

379 Quality of life in children with ichthyosis
Ichthyoses are genetic skin disorders characterized by scaly, variably red skin caused by mutations in over 30 genes. Excluding ichthyosis vulgaris and X-linked ichthyosis, these are rare disorders and limited access to patient data has hindered clinical investigation. Employing data from the National Registry for Ichthyosis and Related Skin Types, we examined quality of life in 133 affected children between the ages of 4 and 16 who completed the Children ’s Dermatology Life Quality Index (CDLQI). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: B. Olamiju, I. Ren, L. Li, Y. Deng, N. Marukian, J. Zhou, R. Hu, T. Zaki, B. Craiglow, K. Choate Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

832 Mechanisms of spontaneous genetic reversion in ichthyosis with confetti
Genetic reversion to a wild type state is a vanishingly rare event in human disease. However, in ichthyosis with confetti (IWC), a severe skin disorder due to dominant mutations affecting the tail domains of KRT10 and KRT1, patients develop hundreds to thousands of revertant macules of normal skin, each arising from independent events of copy-neutral loss-of-heterozygosity (CN-LOH) as result of homology-based mitotic recombination. Further, these revertant patches grow in size and number over time, suggesting that revertant basal keratinocytes acquire a selective advantage over their mutant neighbors. (Source: Journal of I...
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: Y. Lim, Y. Lu, H. Mirza, J. Zhou, R. Hu, K. Choate Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

820 Customized gene-targeted next generation sequencing panel identifies a spectrum of mutations in consanguineous families affected by ichthyoses
In this study we characterized a large, predominantly consanguineous cohort of 179 ichthyosis families comprised of 138 non-syndromic, 29 syndromic, and 12 unclassified cases using an ichthyosis-targeted next generation sequencing (NGS) array consisting of 38 genes. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: L. Youssefian, H. Vahidnezhad, A. Saeidian, S. Zeinali, S. Sotoudeh, H. Mahmoudi, P. Mansouri, M. Daneshpazhooh, P. Fortina, J. Uitto Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

813 TALEN-mediated inactivation of dominant-negative keratin alleles results in the formation of a stable functional cytoskeleton and phenotypic alleviation of epidermolytic ichthyosis
We are developing an ex vivo gene editing therapy for epidermolytic ichthyosis (EI), using transcription activator-like effector nucleases (TALENs) to knockout dominant-negative mutant KRT10 alleles in keratinocytes.EI is a skin fragility disorder caused by heterozygous mutations in KRT1 or KRT10. Keratins K10 and K1 polymerise to build the intermediate filament (IF) cytoskeleton of epidermal suprabasal keratinocytes. Mutant keratins integrate into this, resulting in fragility and collapse upon mild stress, leading to IF aggregate formation and blistering of the skin. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: O.P. March, T. Kocher, T. Lettner, M. Ablinger, N. Lackner, S. Hainzl, P. Peking, M. Aushev, U. Koller, J. Reichelt Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

799 Exome, genome, and cDNA sequencing reveal KDSR mutations cause two forms of ichthyosis and identify retinoids as pathogenesis-directed therapy
Via exome sequencing of a cohort with genetically unsolved keratinization disorders, we discovered four subjects compound heterozygous for damaging mutations in KDSR (3-ketodihydrosphingosine reductase), an enzyme in the ceramide synthesis pathway. All four subjects are consistent for a previously undescribed recessive skin disorder featuring severe scale on face and genitals and thickened red palmoplantar skin. At least one of the pathogenic mutations in each subject was elusive. Three subjects are heterozygous for a silent third base change, which was shown via cDNA sequencing to cause exon skipping. (Source: Journal of ...
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: L. Boyden, N. Vincent, J. Zhou, R. Hu, A. Paller, R. Lifton, S. Baserga, K. Choate Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

756 Generalized ichthyotic peeling skin syndrome due to FLG2 mutations
Peeling skin syndrome is a group of recessive skin fragility genodermatoses with superficial peeling of the skin as the characteristic clinical feature, that may be accompanied by ichthyosis and/or inflammation. Here we present two siblings with non-syndromic generalized ichthyotic peeling skin syndrome and a homozygous nonsense mutation in FLG2, a novel peeling skin syndrome gene, resulting in loss of functional filaggrin-2. The level of separation was in the lowest part of the stratum corneum. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: M. Bolling, S. Jan, A. Pasmooij, H. Lemmink, L. Franke, V. Yenamandra, R. Sinke, P. van den Akker, M.F. Jonkman Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

745 Filaggrin gene (FLG) promoter polymorphisms are associated with atopic dermatitis but not ichthyosis vulgaris in Japan
Atopic dermatitis (AD) is a common allergic and immunological skin disease. Mutations in the gene encoding filaggrin (FLG) were shown to be predisposing factors for AD in various populations. However, the rate of FLG mutations in AD is low in some populations. Studies have shown that patients without FLG mutations also have reduced filaggrin expression suggesting that other factors controlling filaggrin expression, including promoter polymorphism, might be important. The involvement of FLG promoter polymorphism in AD has not been determined. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: K. Teye, H. Koga, A. Nagai, C. Ohata, S. Numata, N. Ishii, T. Nakama Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

740 Chromosomal microarray analysis for the molecular diagnosis of nevoid basal cell carcinoma syndrome and X-linked ichthyosis
Chromosomal microarray (CMA) analysis is able to confirm detailed genomic location of deleted regions. We performed CMA using the CytoScan HD array platform (Affymetrix, Santa Clara, CA, USA) about three cases of nevoid basal cell carcinoma syndrome (NBCCS) and a case of X-linked ichthyosis (XLI) which diagnosed by targeted exome sequencing and fluorescence in situ hybridization analysis, respectively. Among three cases of NBCCS, an approximately 7.93kb intragenic deletion of PTCH1 was detected in one case. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: Y. Matsudate, Y. Kubo, I. Imoto Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

1319 Claudin-1 and -3 maintain proper hair follicle structure and regulate telogen effluvium
In this study, murine back skin samples were immunohistochemically stained for CLDN1 and CLDN3 to detect their localization in HFs. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: K. Yamaga, R. Tokumasu, A. Yamamoto, A. Tamura, I. Katayama, H. Murota, S. Tsukita Tags: Skin, Appendages, and Stem Cell Biology Source Type: research

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.
PMID: 29701233 [PubMed - as supplied by publisher] (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - April 27, 2018 Category: Dermatology Authors: Diociaiuti A, Rosati E, Paglietti MG, Vacca P, Boldrini R, Pisaneschi E, Castiglia D, Novelli A, Hachem ME Tags: Acta Derm Venereol Source Type: research

283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population
Autosomal recessive congenital ichthyosis (ARCI) refers to a heterogeneous group of disorders characterized by generalized scaling and erythema. We ascertained a cohort of 60 Middle-Eastern families with ARCI. Pathogenic mutations were found in TGM1 (20%), CYP4F22 (19%), ALOX12B (14%), ABCA12 (11%), ALOXE3 (5%), NIPAL4 (4%), PNPLA1 (3%), LIPN (2%), SDR9C7 (2%) and SULT2B1 (2%). In 20 % of the cases, no mutation was found. Our cohort revealed a higher prevalence of CYP4F22 (15%) and ABCA12 (11%) mutations and a lower prevalence of TGM1 (20%) and NIPAL4 (4%) mutations, as compared with other regions of the world. (Source: Jo...
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: J. Mohamad, L. Samuelov, N. Malchin, S. Tiaber, T. Rabinowitz, O. Bitterman-Deutsch, V. Molho-Pessach, E. Cohen-Barak, G. Bach, B. Garty, R. Bergman, A. Harel, A. Nanda, G. Lestringant, J. McGrath, S. Shalev, N. Shomron, J. Mashiach, M. Eskin-Schwartz, O. Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

258 National survey of quality of life and disease severity in patients with congenital ichthyosis
We examined the relationship between disease severity and QOL in patients with CI, especially in patients with harlequin ichthyosis (HI) and ichthyosis: syndromic forms (Netherton syndrome, Sj ögren-Larsson syndrome, Dorfman-Chanarin syndrome, keratitis-ichthyosis-deafness syndrome, and trichothiodystrophy). Patients with HI or ichthyosis: syndromic forms who were aged 8 years or older and who participated in a multicenter retrospective questionnaire survey in Japan were assessed by derm atology life quality index (DLQI, range of 0-30) and CI disease severity score (range of 0-100). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: C. Murase, T. Takeichi, A. Shibata, M. Nakatochi, F. Kinoshita, S. Ikeda, M. Kurosawa, M. Akiyama Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

661 Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis
Mutations in the ABCA12 gene cause Harlequin Ichthyosis (HI), the most severe ARCI, with a defective skin barrier. The aim of this study was to identify essential pathways involved in HI pathomechanisms, responsible for aberrant epidermal differentiation. We performed RNA-seq on calcium-induced primary keratinocytes with siRNA knockdown of ABCA12 and identified 118 genes significantly down-regulated and 36 genes significantly up-regulated. Functional annotation clustering analysis showed changes in epidermal differentiation, fatty acid metabolism, cytokine and interferon signaling. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: F. Enjalbert, P. Dewan, M.P. Caley, B. Fell, M. Morse, D. Kelsell, A. Enright, E.A. O'Toole Tags: Epidermal Structure and Barrier Function Source Type: research

655 Origin and functions of the corneocyte lipid envelope
The -hydroxyceramide (-OH-Cer)-enriched, corneocyte lipid envelope (CLE) lies external to the cornified envelope (CE), but neither its functions nor origin are known. To address its functions, we assessed biopsies from recessive congenital ichthyosis (ARCI) patients and animals with compromised -OH-Cer generation. While both CLEs and CEs were attenuated, topical acylCer applications to ichthyin-deficient canines and transgenic rescue of fatp4 knockout mice restored both CLEs and CEs. The CLE also is required for lamellar membrane formation, because secreted lamellar body (LB)-derived lipids fail to transform into lamellar ...
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: D. Crumrine, D. Khnykin, P. Krieg, M. Man, A. Celli, T. Mauro, G. Menon, E. Mauldin, J. Miner, A. Brash, E. Sprecher, F. Radner, K. Choate, D.R. Roop, Y. Uchida, R. Gruber, M. Schmuth, P. Elias Tags: Epidermal Structure and Barrier Function Source Type: research

380 Ichthyosis has a moderate impact on quality of life in adults
Ichthyoses are a heterogeneous family of hereditary skin disorders characterized by dry, scaly, and frequently severely red skin. Analyzing quality of life (QoL) in those with ichthyosis is essential to understand disease natural history and assess treatment efficacy. To date, little research has been conducted in this field since ichthyosis is a rare disorder with a paucity of genetic and clinical data. Subjects older than 16 were recruited from the National Registry for Ichthyosis and Related Skin Types. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: I. Ren, B. Olamiju, L. Li, Y. Deng, N. Marukian, T. Zaki, J. Zhou, R. Hu, L. Milstone, K. Choate Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

379 Quality of life in children with ichthyosis
Ichthyoses are genetic skin disorders characterized by scaly, variably red skin caused by mutations in over 30 genes. Excluding ichthyosis vulgaris and X-linked ichthyosis, these are rare disorders and limited access to patient data has hindered clinical investigation. Employing data from the National Registry for Ichthyosis and Related Skin Types, we examined quality of life in 133 affected children between the ages of 4 and 16 who completed the Children ’s Dermatology Life Quality Index (CDLQI). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: B. Olamiju, I. Ren, L. Li, Y. Deng, N. Marukian, J. Zhou, R. Hu, T. Zaki, B. Craiglow, K. Choate Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

832 Mechanisms of spontaneous genetic reversion in ichthyosis with confetti
Genetic reversion to a wild type state is a vanishingly rare event in human disease. However, in ichthyosis with confetti (IWC), a severe skin disorder due to dominant mutations affecting the tail domains of KRT10 and KRT1, patients develop hundreds to thousands of revertant macules of normal skin, each arising from independent events of copy-neutral loss-of-heterozygosity (CN-LOH) as result of homology-based mitotic recombination. Further, these revertant patches grow in size and number over time, suggesting that revertant basal keratinocytes acquire a selective advantage over their mutant neighbors. (Source: Journal of I...
Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: Y. Lim, Y. Lu, H. Mirza, J. Zhou, R. Hu, K. Choate Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research