Causeret A, Grezard P, Haftek M, Roth B, Forestier J, Perrot H. Ann Dermatol Venereol. government site. Before 1998 Sep;139(3):492-5. doi: 10.1046/j.1365-2133.1998.02416.x. The CoRDS registry is free for patients to enroll and for researchers to access. Deciduous skin; Familial continuous skin peeling; Familial continuous skin peeling syndrome; Idiopathic deciduous skin; Keratolysis exfoliativa congenita; Keratosis exfoliativa congenita; PSS; Peeling skin disease; . To ensure long-term funding for the OMIM project, we have diversified our revenue stream. An opportunity to contributeinformation leadingto a better understanding of their raredisease. The proband could peel her skin painlessly for a few centimeters, leaving raw red linear bands that later became hyperpigmented. And can also affect the skin of the arms and legs. The .gov means its official. (2018) identified homozygosity for a nonsense mutation in the FLG2 gene (Y355X; 616284.0002). Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. We are unable to make a diagnosis or to give personal medical advice. 2018 Aug;138(8):1736-1743. doi: 10.1016/j.jid.2018.04.032. Invest. Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A. Epub 2018 Jun 27. Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Peeling skin syndrome Authors Turna Ilknur 1 , Melda Demirtaolu , Sevgi Akarsu , Banu Lebe , Ali Tahsin Gne , Sebnem Ozkan Affiliation 1 Dept of Dermatology Dokuz Eyll University, Faculty of Medicine, Izmir, Turkey. Histopathology showed separation in the lower stratum corneum with parakeratosis, and electron microscopy revealed abnormal keratin bundles and keratohyalin granules in the stratum granulosum. Generalized peeling skin syndrome: Case report and review of the literature. Skin biopsy showed subcorneal separation with little to no dermal inflammatory infiltrate. (2018) described an 11-year-old Moroccan girl who was erythrodermic at birth, and afterward exhibited dry skin with superficial peeling upon minor trauma, leaving red denuded areas that healed with hyperpigmentation, but without scarring. Int J Dermatol. Bethesda, MD 20894, Web Policies Using this data, researchers can learn how genetic changes in a specific gene can affect different people. Hashimoto K, Hamzavi I, Tanaka K, Shwayder T. J Am Acad Dermatol. Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. PMC We strongly recommend talking to a trusted doctor before choosing to participate in any clinical study. (2017) performed exome sequencing and identified homozygosity for a nonsense mutation in the FLG2 gene (S211X; 616284.0001). Acral refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs. Peeling skin syndrome-6 is characterized by generalized ichthyotic dry skin and bullous peeling lesions on the trunk and limbs at sites of minor trauma. Clinical trials are clinical studies involving participants who are assigned to an intervention, procedure, or potential treatment. J. Med. Peeling skin syndrome (PSS) refers to a rare group of heterogeneous autosomal recessive diseases that manifest as superficial skin peeling without mucosal peeling. hands peeling after virusmetal arms: glitch in the system characters. Information on Clinical Trials and Research Studies, 5 Myths About Orphan Drugs and the Orphan Drug Act, Familial continuous skin peeling syndrome. [PubMed: 29758285, related citations] It may also be a sign of an immune system disorder or other disease. The generalized form has two subtypes, noninflammatory and inflammatory. Clipboard, Search History, and several other advanced features are temporarily unavailable. The https:// ensures that you are connecting to the Skin irritation from friction. Hope for current and future patients and a sense of accomplishment for actively playing a vital role in the progress ofresearch. and transmitted securely. Acral skin peeling syndrome is a rare genetic condition that leads to painless peeling of the top layers of the skin on the hands and feet. Antioxidants (Basel). Careers. Please join your colleagues by making a Occasionally, peeling also occurs on the arms and legs. official website and that any information you provide is encrypted Improved health care and quality of life for people who currently have a disease and for those who may develop a disease in the future. Elias PM, Williams ML, Maloney ME, Bonifas JA, Brown BE, Grayson S, Epstein EH Jr. J Clin Invest. Peeling skin syndrome-6 is characterized by generalized ichthyotic dry skin and bullous peeling lesions on the trunk and limbs at sites of minor trauma. Staphylococcal scalded skin syndrome (SSSS) is a serious skin infection. A low plasma tryptophan level as present in two patients with this disease. The clinical history, genetics, serially performed skin biopsies, and biochemical studies are reviewed. 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. Peeling skin syndrome-3 is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Peeling skin syndrome (PSS) refers to a rare group of heterogeneous autosomal recessive diseases that manifest as superficial skin peeling without mucosal peeling. Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. Peeling skin may occur because of direct damage to the skin, such as from sunburn or infection. 2012 Mar 19;12:2. doi: 10.1186/1471-5945-12-2. Examination showed generalized ichthyosis xerosis with diffuse fine scales, as well as mild diffuse thickening of the palms. eCollection 2013. Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Along with the required amount of water, an oral rehydration solution . MeSH The lesions, which were most prominent during the heat of summer months and were also triggered by minor skin trauma, left residual discolored skin after healing. Facial peeling skin syndrome: a case report and a brief review. 2013 Aug 7;5(2):210-4. doi: 10.1159/000354572. The two major forms are acral peeling skin syndrome (APSS; also called localized PSS) and generalized PSS [4-7]. [Full Text], Bolling, M. C., Jan, S. Z., Pasmooij, A. M. G., Lemmink, H. H., Franke, L. H., Yenamandra, V. K., Sinke, R. J., van den Akker, P. C., Jonkman, M. F. Accessibility Skin biopsy of lesional skin from the proband showed thin epidermis with orthokeratosis and no significant inflammation. PSS is caused by genetic variants in several different genes and is inherited in anautosomal recessive pattern of inheritance. [Full Text: https://doi.org/10.1016/j.jid.2018.04.032]. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). These peeled areas lack a normal barrier function and may become dry and cracked. Connects participants (including people with genetic and rare diseases) and researchers. government site. Unable to load your collection due to an error, Unable to load your delegates due to an error. They evaluate the effect of the intervention on the participant. The symptoms of PSS can appear anytime from . Rash, itching, dryness and other irritating skin problems may accompany peeling skin. science writers and biocurators. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques ( Pigors et al., 2016 ). NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, Genetic or inflammatory diseases Kawasaki disease. Would you like email updates of new search results? The recommended daily water intake is 3.7 L for men and 2.7 L for women. J. A patient registry is a database that collects and stores information about patients who have specific diseases. [PubMed: 29505760] The peeling skin is usually painless. Derm. Peeling in this skin condition does not leave any scars, but in case of excess itching, try not to scratch the affected area, as it can lead to scarring. FOIA This information is provided by the National Institutes of Health (NIH) Her affected brother was also homozygous for the mutation, whereas her unaffected parents and 2 unaffected sibs were heterozygous carriers. Various names have been applied to these conditions and a number of individual cases have been described as the peeling skin syndrome. Some people with PSS have itching, redness, and scarring. Genetic and Rare Diseases Information Center (GARD). The two major forms are acral peeling skin syndrome (APSS; also called localized PSS) and generalized PSS [ 4-7 ]. 8600 Rockville Pike Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. #618084 (2018) performed whole-exome sequencing with comprehensive gene-network analysis and identified homozygosity for the S211X mutation in the FLG2 gene. It is important to review all aspects of the clinical study when making a decision about whether to participate. Disclaimer, National Library of Medicine [PubMed: 28884927] and transmitted securely. Extra sections include personal stories by clinical trial participants and enrolling children in clinical trials. Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. Corneocytes were swollen, interdigitating, and loosely packed, with light gray globular inclusions and abnormal central vesicles. First-degree cousins of the affected sibs were reported to exhibit an atopic diathesis, although they had no skin manifestations; however, the affected sibs had normal IgE levels. Additional symptoms may depend on the form of PSS. Peeling skin syndromes (PSSs) are a heterogeneous group of rare, autosomal recessive disorders characterized by superficial, painless peeling and blistering of Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis. There are two forms of PSS. Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. Research can clarify the common symptoms of a disease and the course of the disease. Brusasco A, Veraldi S, Tadini G, Caputo R. Br J Dermatol. Am. There is an acral form in which skin peeling is limited to the hands and feet. The following resources can be used to stay informed about new treatments and research results related to a rare disease: The following resources can be used to stay informed about current and future clinical studies related to a rare disease: The following resources can be used to stay informed about available research funding and researchers investigating a rare disease: Many patient organizations offer ways to share personal stories about living with a rare disease. The symptoms of PSS can appear anytime from birth to adulthood, but usually occur by childhood. Hair, nails, and mucosae were normal. Toxic shock syndrome. Before The registry's goal is to connect patients and researchers to help advance treatments and cures for rare diseases. Peeling skin syndrome associated with novel variant in FLG2 gene. Invest. 2007 Mar;46(3):287-9. doi: 10.1111/j.1365-4632.2006.03074.x. 2017 May-Jun;8(3):208-210. doi: 10.4103/idoj.IDOJ_118_16. Please enable it to take advantage of the complete set of features! However, all these staining results were normal or near-normal at age 10 years. Invest. Many GARD web pages are still in development. J. Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Lifelong peeling of the general body epidermis, pruritus, short stature, easily removed anagen hairs, and the ability to easily mechanically separate stratum corneum from the rest of the epidermis characterize the syndrome. To date, several cases have been described with different clinical features called peeling skin syndrome. What is peeling skin syndrome? 2000 Dec;43(6):1112-9. doi: 10.1067/mjd.2000.103645. The infection causes peeling skin over large parts of the body. An opportunity to access cutting edge research treatment before it is widely available to others and to receive medical care from knowledgeable providers. Some registries collect only basic information to connect interested patients with clinical studies. Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E. J Invest Dermatol. Electron microscopy revealed splitting within the stratum corneum that extended to the granular layer, with intact attached lamina densa and lucida at the dermal surface, suggestive of peeling skin syndrome. Sunburns. official website and that any information you provide is encrypted Personal stories can also help policy makers learn more about how policies may affect those living with rare diseases. Acral skin peeling syndrome was first reported by Dr. Howard Fox in a case letter and since then 100 cases have been reported in the medical literature. Disease manifestations improved with age. Not all diseases will have an active clinical study. Bolling et al. Social media offers a way to find other patients and families impacted by a rare disease. 173A: 3201-3204, 2017. If you live in a hot or humid environment, you may need to drink more water to compensate for water loss through sweating. The infection causes peeling skin over large parts of the body. Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. The peeling skin is usually painless. While this peeling is usually painless, it's often continuous. sharing sensitive information, make sure youre on a federal 2014 Oct 11;6(3):232-8. doi: 10.1159/000368823. The peeling is usually present from birth, but can appear later in childhood or early adulthood. In addition, the desquamation pattern in our patient was different from that of both types because our case's palms and soles were involved too. It usually presents at birth or appears later in childhood or early adulthood. PSS is diagnosed based on the symptoms. It looks like the skin has been scalded or burned by hot liquid. An official website of the United States government. RaDaR provides guidance for setting up and maintaining high-quality registries that are based on best practices and data standards. Genetics Home Reference Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. For rare diseases information Center ( GARD ) adulthood, but usually occur by childhood about patients have! 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