6,104 results match your criteria Ichthyosis X-Linked
Acta Paediatr 2018 Dec 11. Epub 2018 Dec 11.
Fundación Pública Galega de Medicina Xenómica-SERGAS, CIBERER, IDIS, Grupo de Medicina Xenómica-Universidade de Santiago de Compostela, Santiago de CompostelaSpain.
Ichthyosis prematurity syndrome (IPS), or ichthyosis congenita type IV, is a rare syndromic form of autosomic recessive ichthyosis caused by mutations in fatty acid transport protein 4 (FATP4), also known as SLC27A4. Patients with a disrupted FATP4 gene are usually born prematurely with thick desquamating skin and other complications, such as neonatal asphyxia, eosinophilia and elevated serum immunoglobulin E levels. Symptoms become less severe after the first months of life, evolving to non-scaly ichthyosis with follicular hyperkeratosis in adulthood (1, 2). Read More
Ann Saudi Med 2018 Nov-Dec;38(6):445-449
Frieda Elsje Dreyer, Department of Obstetrics and Gynaecology,, Sunderland Royal Hospital,, Sunderland SR4 7TP, United Kingdom, T: +44 0191 565 6256, ORCID: http://orcid.org/0000-0002.0997-9919.
Placental steroid sulphatase deficiency (SSD) is an X-linked inborn error of metabolism. Congenital X-linked ichthyosis (XLI) is a genetic disorder of keratinisation caused by steroid sulphatase (STS) deficiency, which results in a scaling skin condition in male infants shortly after birth. It may be associated with failed induction of labor and prolonged labor leading to cesarean delivery due to 'cervical dystocia'. Read More
J Gen Physiol 2018 Dec 7. Epub 2018 Dec 7.
Department of Pharmacology, Physiology & Neuroscience, New Jersey Medical School, Rutgers University, Newark, NJ
A group of human mutations within the N-terminal (NT) domain of connexin 26 (Cx26) hemichannels produce aberrant channel activity, which gives rise to deafness and skin disorders, including keratitis-ichthyosis-deafness (KID) syndrome. Structural and functional studies indicate that the NT of connexin hemichannels is folded into the pore, where it plays important roles in permeability and gating. In this study, we explore the molecular basis by which N14K, an NT KID mutant, promotes gain of function. Read More
J Dermatol Sci 2018 Nov 20. Epub 2018 Nov 20.
Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo 060-0812, Japan. Electronic address:
Background: ABHD5 mutations cause Chanarin-Dorfman syndrome accompanied by ichthyosis. ω-O-Acylceramide (acylceramide) is essential for skin permeability barrier formation. Acylceramide production is impaired in Abhd5 knockout mice. Read More
J Dtsch Dermatol Ges 2018 Dec 6. Epub 2018 Dec 6.
Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.
J Clin Ultrasound 2018 Dec 3. Epub 2018 Dec 3.
Department of Obstetrics and Gynaecology, Centro Hospitalar São João, Porto, Portugal.
Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features. Read More
Indian Dermatol Online J 2018 Nov-Dec;9(6):448-451
Department of Dermatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.
Schopf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas. A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas, ichthyosis, palmoplantar keratoderma, hypodontia, nail dystrophy, and thin scalp hair. Read More
JAAD Case Rep 2018 Nov 14;4(10):1059-1061. Epub 2018 Nov 14.
Department of Medicine, Division of Dermatology, University of Arizona, Tucson, Arizona.
J Med Genet 2018 Nov 28. Epub 2018 Nov 28.
NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Background: Very long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two patients with a dominant mutation. Read More
J Invest Dermatol 2018 Nov 21. Epub 2018 Nov 21.
Dermatology Service, VA Medical Center, San Francisco and Department of Dermatology, UC San Francisco, San Francisco, CA. Electronic address:
The corneocyte lipid envelope (CLE), a monolayer of ϖ-hydroxyceramides, whose function(s) remain(s) uncertain, is absent in autosomal recessive congenital ichthyoses (ARCI) with mutations in enzymes that regulate epidermal lipid synthesis. Secreted lipids fail to transform into lamellar membranes in certain ARCI epidermis, suggesting the CLE provides a scaffold for the extracellular lamellae. But since cornified envelopes (CEs) are attenuated in these ARCI, the CLE may also provide a scaffold for subjacent CE formation, evidenced by restoration of CEs after CLE 'rescue. Read More
Acta Derm Venereol 2018 Nov 21. Epub 2018 Nov 21.
Department of Dermatology and Allergy, Ludwig Maximilian University, Munich, Germany.
Arch Argent Pediatr 2018 Dec;116(6):e773-e777
Laboratorio de Bioquímica y Medicina Experimental, Centro Médico Nacional "20 de Noviembre", ISSSTE.
Sjogren-Larsson syndrome is characterized by congenital ichthyosis, mental retardation and spastic diplegia or quadriplegia. The primary defect in this syndrome is mutation of ALDH3A2 gen that codes for the fatty aldehyde dehydrogenase. Deficiency of this enzyme causes an accumulation of fatty alcohols and fatty aldehydes, leading to altered cell-membrane integrity. Read More
Turk J Gastroenterol 2018 Nov 16. Epub 2018 Nov 16.
Department of Medical Genetics, Marmara University School of Medicine, İstanbul, Turkey.
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromosome 3, lipid is stored in the granulocytes at various sites in the human body, such as the muscle, liver, eye, ear, central nervous system, and bone marrow. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. Read More
Sensors (Basel) 2018 Nov 14;18(11). Epub 2018 Nov 14.
Hochschule Neubrandenburg, Department of Agricultural Machinery, University of Applied Science, Brodaer Straße 2, 17033 Neubrandenburg, Germany.
The aim of this study was to evaluate whether the severity of hyperkeratosis (HK) in the teats of dairy cows can be assessed by a dielectric measurement. The study focused on surveying the occurrence of hyperkeratosis in a total of 241 teats of lactating dairy cows. A scoring system consisting of four categories was used to macroscopically assess the severity of HK. Read More
Hum Mutat 2018 Nov 15. Epub 2018 Nov 15.
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
Ichthyosis follicularis, a distinct cutaneous entity reported in combination with atrichia, and photophobia has been associated with mutations in MBTPS2. We sought the genetic cause of a novel syndrome of ichthyosis follicularis, bilateral severe sensorineural hearing loss and punctate palmoplantar keratoderma in two families. We performed whole exome sequencing on three patients from two families. Read More
Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:26-31. Epub 2018 Nov 12.
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France - Centre National de la Recherche Scientifique (CNRS), UMR7104, Illkirch, France - Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, Illkirch, France - Université de Strasbourg, Illkirch, France.
Calcium (Ca) is an essential regulator for a large number of cellular functions in various tissues and organs, and small disturbances of Ca homeostasis can severely compromise normal physiology. Intracellular Ca balance is mainly controlled by the reticular Ca sensor STIM1 and the plasma membrane Ca channel ORAI1 through a mechanism known as store-operated Ca entry (SOCE). Gain-of-function mutations in STIM1 or ORAI1 cause excessive extracellular Ca influx, resulting in tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). Read More
JAAD Case Rep 2018 Nov 2;4(10):993-995. Epub 2018 Nov 2.
Department of Dermatology, Getulio Vargas University Hospital, Amazonas, Brazil.
Skinmed 2018 9;16(5):365-367. Epub 2018 Nov 9.
Department of Dermatology and Venereology.
Skinmed 2018 9;16(5):330-331. Epub 2018 Nov 9.
New Delhi, India; and the Dermato-Venerology (Skin/VD) Center, Sehgal Nursing Home, A/6 Panchwati, New Delhi, India.
Br J Haematol 2018 Nov 8. Epub 2018 Nov 8.
Department of Clinical Haematology, Sofiamed University Hospital, Sofia, Bulgaria.
Exp Dermatol 2018 Nov 3. Epub 2018 Nov 3.
Department of Pharmacy, School of Health Sciences, University of Patras, Rion-Patras, 265 04, Greece.
The role of epidermal proteolysis in overdesquamation was revealed in Netherton syndrome, a rare ichthyosis due to genetic deficiency of the LEKTI inhibitor of serine proteases. Recently, we developed activography, a new histochemical method, to spatially localize and semi-quantitatively assess proteolytic activities using activity-based probes. Activography provides specificity and versatility compared to in situ zymography, the only available method to determine enzymatic activities in tissue biopsies. Read More
Dermatol Ther 2018 Nov 30;31(6):e12690. Epub 2018 Oct 30.
Catholic University of Sacred Heart, Rome, Italy.
Alterations in barrier function are associated with a number of skin diseases, including xerosis, atopic dermatitis, and psoriasis. Urea, a component of the natural moisturizing factor of the skin, plays an important role in the preservation of skin hydration and integrity. Several studies have investigated the effects of urea in the clinical setting. Read More
Exp Dermatol 2018 Oct 29. Epub 2018 Oct 29.
Department of Medical Sciences, Dermatology and Venereology, Uppsala University, SE-751 85, Uppsala, Sweden.
Autosomal recessive congenital ichthyosis (ARCI) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes, many of which are involved in the epidermal synthesis of ω-O-acylceramides (acylCer). AcylCer are essential precursors of the corneocyte lipid envelope crosslinked by transglutaminase-1 (TGm-1), or a yet unidentified enzyme, for normal skin barrier formation. We hypothesized that inactivating TGM1 mutations will lead to a compensatory overexpression of the transcripts involved in skin barrier repair, including many other ARCI-causing genes. Read More
Hum Mutat 2018 Oct 29. Epub 2018 Oct 29.
Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
The Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features. Read More
Cornea 2019 Jan;38(1):123-126
Department of Ophthalmology, Cincinnati Eye Institute, University of Cincinnati, Cincinnati, OH.
Purpose: To report our surgical experience with ocular surface stem cell transplantation (OSST) for limbal stem cell deficiency (LSCD) in the setting of keratitis-ichthyosis-deafness (KID) syndrome.
Methods: Retrospective interventional case series.
Results: We present 5 eyes of 3 patients with KID syndrome that developed LSCD and underwent OSST. Read More
J Lipid Res 2018 Dec 25;59(12):2360-2367. Epub 2018 Oct 25.
Institute of Molecular Biosciences, University of Graz, Graz, Austria
Mutations in the genes coding for patatin-like phospholipase domain-containing 1 (PNPLA1) and α/β-hydrolase domain-containing 5 (ABHD5), also known as comparative gene identification 58, are causative for ichthyosis, a severe skin barrier disorder. Individuals with mutations in either of these genes show a defect in epidermal ω--acylceramide (AcylCer) biosynthesis, suggesting that PNPLA1 and ABHD5 act in the same metabolic pathway. In this report, we identified ABHD5 as a coactivator of PNPLA1 that stimulates the esterification of ω-hydroxy ceramides with linoleic acid for AcylCer biosynthesis. Read More
Eur J Med Genet 2018 Oct 22. Epub 2018 Oct 22.
Department of Neonatal Intensive Care, The Children's Memorial Health Institute, Poland.
Trichothiodystrophy (TTD) is a group of predominantly autosomal recessive disorders characterized by sulfur-deficient brittle hair. Clinical features of TTD consist of variable neuroectodermal symptoms including ichthyosis, nail abnormalities, mental retardation, short stature, decreased fertility and proneness to infections. Approximately half of the reported patients with TTD have clinical and cellular photosensitivity associated with mutations in three subunits (ERCC3, ERCC2, GTF2H5) of the basal transcription factor TFHII, which is involved in transcription and nucleotide excision repair. Read More
Eur J Ophthalmol 2018 Oct 25:1120672118805622. Epub 2018 Oct 25.
Ophthalmic Plastic Surgery Service, LV Prasad Eye Institute, Hyderabad, India.
Aim:: To test if hyaluronic acid gel injection in the upper eyelid achieves correction of congenital cicatricial ectropion and reduction in lagophthalmos, in preparation for intraocular surgery.
Methods:: This case reports the long-term outcome of hyaluronic acid gel injection in the upper eyelid for the correction of ectropion prior to cataract surgery. One millilitre of hyaluronic acid gel was injected in both the upper eyelids of a child with congenital ichthyosis in the suborbicularis plane, prior to cataract surgery. Read More
Endocrinol Diabetes Metab Case Rep 2017 Sep 28;2017. Epub 2017 Sep 28.
Endocrinology Department, Parc Taulí University Hospital, Sabadell, Barcelona, Spain.
Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Read More
J Lipid Res 2018 Dec 22;59(12):2413-2420. Epub 2018 Oct 22.
Department of Dermatology Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan
Neu-Laxova syndrome (NLS) is a very rare autosomal recessive congenital disorder characterized by disturbed development of the central nervous system and the skin and caused by mutations in any of the three genes involved in de novo l-serine biosynthesis: , , and l-Serine is essential for the biosynthesis of phosphatidylserine and sphingolipids. The extracellular lipid of the stratum corneum, of which sphingolipid constitutes a significant part, plays a primary role in skin barrier function. Here, we describe a Japanese NLS pedigree with a previously unreported nonsense mutation in and a unique inversion of chromosome 1. Read More
Cell Death Dis 2018 Oct 19;9(11):1072. Epub 2018 Oct 19.
Division of Cancer Research, Peter MacCallum Cancer Centre, Grattan Street, Melbourne, VIC, 3000, Australia.
Identifying soluble factors that influence epidermal integrity is critical for the development of preventative and therapeutic strategies for disorders such as ichthyosis, psoriasis, dermatitis and epidermal cancers. The transcription factor Grainyhead-like 3 (GRHL3) is essential for maintaining barrier integrity and preventing development of cutaneous squamous cell carcinoma (SCC); however, how loss of this factor, which in the skin is expressed exclusively within suprabasal epidermal layers triggers proliferation of basal keratinocytes, had thus far remained elusive. Our present study identifies thymus and activation-regulated chemokine (TARC) as a novel soluble chemokine mediator of keratinocyte proliferation following loss of GRHL3. Read More
Eur J Dermatol 2018 Aug;28(4):534-535
Dermatology Hosptial Southern Medical University and Guangdong Provincial Dernatology Hospital, Guangdong Guangzhou 510095, Guangzhou, China.
J Cutan Med Surg 2018 Nov/Dec;22(6):608
2 The Ottawa Hospital, Division of Dermatology, Department of Medicine, University of Ottawa, The Ottawa Hospital Civic Campus, Ottawa, ON, Canada.
Br J Dermatol 2018 Oct;179(4):821-822
Department of Dermatology, University Hospital of Münster, Münster, Germany.
J Dermatol 2018 Dec 10;45(12):1463-1467. Epub 2018 Oct 10.
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one truncating mutation in TGM1. Here, we report a patient with severe lamellar ichthyosis who was compound heterozygous for TGM1 missense mutations, including a novel one. Read More
J Dtsch Dermatol Ges 2018 Oct;16(10):1289-1295
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetology, Saarland University Medical Center, Homburg, Germany.
With an incidence of 1 in 700 births, Down syndrome (DS) is not an uncommon condition. It is associated with various disorders of different organ systems. Serious disorders include cardiac defects and leukemia. Read More
J Dtsch Dermatol Ges 2018 Oct;16(10):1289-1296
Universität des Saarlandes, Kliniken für Kinder- und Jugendmedizin, Sektion Pädiatrische Endokrinologie und Diabetologie, Homburg.
Das Down-Syndrom (DS) ist mit einer Inzidenz von 1 : 700 aller Geburten nicht selten und mit diversen Erkrankungen unterschiedlicher Organsysteme assoziiert. Zu den schwerwiegenden Erkrankungen zählen Herzfehler und Leukämie. Letztere zeigt sich im Neugeborenenalter und geht nicht immer in eine klassische myeloische Leukämie über (transiente myeloproliferative Erkrankung). Read More
J Dermatol 2018 Oct 8. Epub 2018 Oct 8.
Department of Dermatology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Biochim Biophys Acta Mol Cell Biol Lipids 2018 Oct 2. Epub 2018 Oct 2.
Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Kita 12-jo, Nishi 6-chome, Kita-ku, Sapporo 060-0812, Japan.
The human genome encodes nine enzymes belonging to the patatin-like phospholipase domain-containing lipase (PNPLA)/Ca-independent phospholipase A (iPLA) family. Although most PNPLA/iPLA enzymes are widely distributed and act on phospholipids or neutral lipids as (phospho)lipases to play homeostatic roles in lipid metabolism, the function of PNPLA1 remained a mystery until a few years ago. However, the recent finding that mutations in the human PNPLA1 gene are linked to autosomal recessive congenital ichthyosis (ARCI), as well as evidence obtained from biochemical and gene knockout studies, has shed light on the function of this enzyme in skin-specific sphingolipid metabolism rather than glycerophospholipid metabolism. Read More
Clin Exp Dermatol 2018 Oct 4. Epub 2018 Oct 4.
Alan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, UK.
Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Read More
J Am Acad Dermatol 2018 Oct 1. Epub 2018 Oct 1.
Department of Dermatology, Yale School of Medicine, New Haven, CT.
Background: Infant death in KID syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood.
Objective: To discover characteristics that account for poor outcomes in lethal KID syndrome.
Methods: We collected four new cases and nine previously reported, genotyped cases of lethal KID syndrome. Read More
J Am Acad Dermatol 2018 Oct 1. Epub 2018 Oct 1.
Department of Dermatology, Preventive Medicine and Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL; Northwestern Medicine Multidisciplinary Eczema Center, Chicago, IL. Electronic address:
Background: Previous studies found conflicting results about the commonality of different atopic dermatitis (AD) signs and symptoms.
Objective: To determine the prevalences of AD characteristics and differences by region and age.
Methods: A systematic review was performed of all published studies in MEDLINE, EMBASE, SCOPUS, LILACS, Cochrane, China National Knowledge Infrastructure, Taiwan electronic periodical services and CiNii that analyzed the proportion of AD characteristics. Read More
J Eur Acad Dermatol Venereol 2018 Oct 4. Epub 2018 Oct 4.
Department of Dermatology and Venereology, Third Military Medical University, Chongqing, China.
First reported from Taiwan mistakenly as acral acanthosis nigricans in 1991, pigmented carpotarsal hyperkeratosis or hyperkeratosis nigricans carpi et tarsi displays a peculiar distribution of velvety brown-grey hyperpigmented plaques symmetrically on the flexural side of the wrists and ankles and on the dorsal sides of the hands and feet. A marked epidermal hyperkeratosis with typically mild acanthosis and papillomatosis is observed in histology. Whitish maceration upon perspiration or water exposure, with exacerbation in summer but remission in winter, is common. Read More
Cureus 2018 Jul 30;10(7):e3070. Epub 2018 Jul 30.
Internal Medicine, Icahn School of Medicine at Mount Sinai Queens Hospital Center, New York, USA.
Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE ). We report a case of a two-year-old boy presented with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic dermatitis therapy. Netherton syndrome misdiagnosed as atopic dermatitis due to the presence of eczematous skin lesions and allergic problems. Read More
Congenit Anom (Kyoto) 2018 Sep 30. Epub 2018 Sep 30.
Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, Quetta, Pakistan.
J Am Acad Dermatol 2018 Sep 26. Epub 2018 Sep 26.
Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Background: Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders.
Objective: To estimate the number of patients with ARCI and IS in Japan and clarify the clinicoepidemiologic features of these diseases.
Methods: We performed a nationwide survey of patients treated for ARCI or IS during January 2005-December 2009. Read More
Int J Dermatol 2018 Dec 23;57(12):1485-1491. Epub 2018 Sep 23.
Department of Medical Genetics, Iran University of Medical Sciences (IUMS), Tehran, Iran.
Background: Filaggrin is a key structural epidermal protein in terminal differentiation and formation of skin barrier. The important role of filaggrin and its effects in various cutaneous and noncutaneous disorders initiated a cascade of considerable research in recent years. Loss-of-function mutations in FLG, the human gene encoding profilaggrin/filaggrin, is the cause of the common skin condition ichthyosis vulgaris (IV) and major genetic predisposing factor for atopic dermatitis (AD). Read More
Metab Brain Dis 2018 Dec 23;33(6):2065-2068. Epub 2018 Sep 23.
Department of Pediatric Immunology, Cukurova University Faculty of Medicine, Adana, Turkey.
MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia. Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. She was finally diagnosed with MEDNIK syndrome by clinical findings, which were confirmed by molecular genetic testing. Read More
Cell Calcium 2018 Dec 3;76:1-9. Epub 2018 Sep 3.
Departement of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm U1258, CNRS UMR7104, Université de Strasbourg, Illkirch, France.
Calcium (Ca) is a key regulator for a large number of cellular functions in all kinds of cells, and small disturbances of Ca homeostasis can severely compromise normal physiology in various tissues and organs. A major mechanism controlling Ca homeostasis is store-operated Ca entry (SOCE), which relies on the concerted action of the reticular Ca sensor STIM1 and the plasma membrane Ca channel ORAI1. Gain-of-function mutations in the respective genes induce excessive Ca entry, and cause tubular aggregate myopathy (TAM) and Stormorken syndrome. Read More