official website and that any information you provide is encrypted [Full Text: https://doi.org/10.1016/j.jid.2018.04.032]. Expert curators The .gov means its official. - Caused by mutation in the filaggrin family member-2 gene (FLG2. Personal stories can educate the medical and research communities. Hosts an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. Int J Dermatol. Research Advances Our Clinical Understanding of a Disease, Research Can Lead to the Discovery of New Diagnostics and Treatments, Patient Involvement is Key to Advancing Research, Reasons to Participate in Clinical Studies, Information to Consider Before Joining a Clinical Study, Current clinical studies can be found by using. Various names have been applied to these conditions and a number of individual cases have been described as the peeling skin syndrome. It may also be a sign of an immune system disorder or other disease. And can also affect the skin of the arms and legs. Peeling skin syndrome is a group of rare inherited skin disorders characterized by painless, continual, spontaneous skin peeling (exfoliation) due to a separation of the outermost layer of the epidermis (stratum corneum) from the underlying layers. [PubMed: 29758285, related citations] Hashimoto K, Hamzavi I, Tanaka K, Shwayder T. J Am Acad Dermatol. Ichthyosis appeared shortly after birth as a fine peeling of nonerythematous skin on the palms and soles. Examination showed generalized ichthyosis xerosis with diffuse fine scales, as well as mild diffuse thickening of the palms. Disclaimer, National Library of Medicine NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, Localized peeling skin syndrome: case report with ultrastructural study. Facial peeling skin syndrome: a case report and a brief review. A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN. It doesn't hurt, but your skin often itches and can get red, dry, thick . Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques ( Pigors et al., 2016 ). [Full Text: https://doi.org/10.1002/ajmg.a.38468], 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. [Full Text], Mohamad, J., Sarig, O., Godsel, L. M., 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, J. L., Bergman, R., Green, K. J., Sprecher, E. Peeling skin syndrome (PSS) refers to a rare group of heterogeneous autosomal recessive diseases that manifest as superficial skin peeling without mucosal peeling. Participating in a clinical study is entirely voluntary. 1984 Oct;74(4):1414-21. doi: 10.1172/JCI111552. (2018) studied an affected sister and brother from a consanguineous Arab Moslem family with peeling skin syndrome that primarily involved the limbs as well as the trunk, with sparing of the face and palmoplantar skin. 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. Connecting to other patients and families who share a similar genetic change is an option. The .gov means its official. (2017) performed exome sequencing and identified homozygosity for a nonsense mutation in the FLG2 gene (S211X; 616284.0001). In the generalized form, skin peeling involves most of the body. Invest. 2013 Aug 7;5(2):210-4. doi: 10.1159/000354572. Table of Contents. The blisters burst to leave expanding collarettes of scale and circular or oval, tender, erythematous peeled areas. Bolling et al. accessible. Careers. We strongly recommend talking to a trusted doctor before choosing to participate in any clinical study. [PubMed: 29505760, related citations] Bethesda, MD 20894, Web Policies The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Peeling skin isn't always serious, but it can be. The Role of KEAP1-NRF2 System in Atopic Dermatitis and Psoriasis. [PubMed: 28884927, related citations] The first sign of keratolysis exfoliativa is one or more superficial air-filled blisters on the fingers or palms. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities (Cabral et al. 1/15 . PMC Please enable it to take advantage of the complete set of features! Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). The peeling skin is usually painless. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria. government site. 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. Electron microscopy revealed intraepidermal separation within the lower corneal layers and a reduction in the number of keratohyalin granules, most of which were deformed and irregularly shaped. Peeling skin syndrome is a rare disease characterized by widespread painless peeling of the skin. and by advanced students in science and medicine. 2014 Oct 11;6(3):232-8. doi: 10.1159/000368823. Deciduous skin; Familial continuous skin peeling; Familial continuous skin peeling syndrome; Idiopathic deciduous skin; Keratolysis exfoliativa congenita; Keratosis exfoliativa congenita; PSS; Peeling skin disease; . Derm. It's more common in the summer and fall. RaDaR provides guidance for setting up and maintaining high-quality registries that are based on best practices and data standards. 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 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. Skin symptoms are exacerbated by warmth and humidity; however, the disorder improves markedly with age (Bolling et al., 2018; Mohamad et al., 2018). The goal is to ensure that patient groups can engage as partners in every step of the therapy development process. Peeling skin syndromes (PSSs) are a heterogeneous group of rare, autosomal recessive disorders characterized by superficial, painless peeling and blistering of the skin without mucosal fragility [1-3]. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. She had 2 affected sibs, a 15-year-old sister and 11 year-old brother, in whom the symptoms were milder and less frequent; the published family pedigree also showed 2 affected cousins. A low plasma tryptophan level as present in two patients with this disease. peeling skin syndrome (also known as " acral peeling skin syndrome ", " continual peeling skin syndrome ", " familial continual skin peeling ", " idiopathic deciduous skin ", and " keratolysis exfoliativa congenita " [1]) is an autosomal recessive disorder characterized by lifelong peeling of the stratum corneum, and may be associated with Peeling skin can be the result of: Skin damage Burns. Over 90% sharing sensitive information, make sure youre on a federal This form of ichthyosis is different from previously described entities. Acral peeling skin syndrome in two East-African siblings: case report. Less than 100 cases have been reported in the medical literature. The main symptom is continual peeling of the skin. . eCollection 2014 Sep. Stratum corneum lipids in disorders of cornification. Am. Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. Many GARD web pages are still in development. This condition is very rare, and a. It is important to understand these potential risks and the chance of harm occurring, All information obtained in the study is confidential, In many treatment studies, a participant may be randomly assigned to receive a placebo (a harmless,inactive substitute), Even in studies involving treatments, a participants disease and symptoms may not improve, and there is a possibility they may get worse, Discuss the clinical study with a trusted medical provider before enrolling, Review the "Study Description," which discusses the purpose of the study, and"Eligibility Criteria," whichlists who can and cannot participate in the study, Work with the research coordinator to review the written informed consent, including the risks and benefits of the study, Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation, Determine whether health insurance is required and whetherthere are costs to the participant for the medical care, travel, and lodging, Ask questions. 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. Before joining a clinical study, it is important to understand that: Provides information about clinical trials, participating in clinical trials, and finding clinical trials. 138: 1736-1743, 2018. This inherited disorder of the epidermis was first described in 1924 before the genetics and histology of ichthyosis were extensively studied and is a distinct genetic and clinical entity to be considered in unusual cases of ichthyosis. Hair, nails, and mucosae were normal. Clinical Trials - What Patients Need to Know [FDA]. They evaluate the effect of the intervention on the participant. medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. Peeling skin syndrome (PSS)refers to a group of conditions that causes skin to peel and tear easily. The registry's goal is to connect patients and researchers to help advance treatments and cures for rare diseases. We report a 23-year old man who has been classified as neither type A nor type B, and whose history, clinical features and histopathological findings led to a diagnosis of peeling skin syndrome. HHS Vulnerability Disclosure, Help 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. Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A. (2012)).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (). The recommended daily water intake is 3.7 L for men and 2.7 L for women. There is residual hyperpigmentation in areas of healing, but no scarring. Am. HHS Vulnerability Disclosure, Help Infectious diseases Group A streptococcal infections like scarlet fever. Invest. Additional symptoms may depend on the form of PSS. Previous reports describe two types (type A and type B) of peeling skin syndrome, both of which show generalized desquamation, sparing palms and soles. Donations are an important Scientific Director, OMIM. For a general phenotypic description and a discussion of genetic . The infection causes peeling skin over large parts of the body. The peeling is usually present from birth, but can appear later in childhood or early adulthood. The two major forms are acral peeling skin syndrome (APSS; also called localized PSS) and generalized PSS [ 4-7 ]. Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. Thank you in advance for your generous support, The generalized form has two subtypes, noninflammatory and inflammatory. Indian Dermatol Online J. These peeled areas lack a normal barrier function and may become dry and cracked. New ways to prevent, diagnose, and treat diseases. Before We are determined to keep this website freely official website and that any information you provide is encrypted J. The peeling skin syndrome Abstract A unique form of congenital ichthyosis in two unrelated patients is described and characterized histologically by separation of the epidermis between the stratum corneum and the stratum granulosum. #618084 In 3 affected sibs from a consanguineous Saudi family with peeling skin syndrome, who were negative for mutations in known PSS-associated genes, Alfares et al. A number sign (#) is used with this entry because of evidence that peeling skin syndrome-6 (PSS6) is caused by homozygous mutation in the FLG2 gene (616284) on chromosome 1q21. Peeling skin syndromes (PSSs) are a heterogeneous group of rare, autosomal recessive disorders characterized by superficial, painless peeling and blistering of The symptoms of Acral skin peeling syndrome are mild . A person may decide to participate in clinical studies because clinical studies often provide: Understanding as much as possible about participating in clinical studies is key to making an informed decision. Toxic shock syndrome. She had a similarly affected older brother, who also showed remarkable improvement with age. 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. While the OMIM database is open to the public, users seeking information about a personal The clinical history, genetics, serially performed skin biopsies, and biochemical studies are reviewed. Disease manifestations improved with age. It most commonly causes painless peeling of the top layers of skin on your hands and feet. Genetic or inflammatory diseases Kawasaki disease. Clinical trials are clinical studies involving participants who are assigned to an intervention, procedure, or potential treatment. The goal is to support the collection of patient information that can be used in developing treatments for rare diseases. FOIA Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. Offers information about specific topics related to participating in clinical trials, including the difference between clinical research and medical treatment, different types of clinical trials, and informed consent. An opportunity to contributeinformation leadingto a better understanding of their raredisease. Sunburns. Staph infections like impetigo. 138: 1881-1884, 2018. Kavaklieva S, Yordanova I, Bruckner-Tuderman L, Has C. Case Rep Dermatol. Staphylococcal scalded skin syndrome (SSSS) is a serious skin infection. Other more common conditions may need to be excluded. 2012 Mar 19;12:2. doi: 10.1186/1471-5945-12-2. Peeling skin syndrome (PSS) refers to a rare group of heterogeneous autosomal recessive diseases that manifest as superficial skin peeling without mucosal peeling. The site is secure. Some registries collect only basic information to connect interested patients with clinical studies. [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. 10-Month-Old boy 2012 ) ).For a discussion of genetic medical or condition... To consult with a qualified physician for diagnosis and for answers to personal questions widespread peeling. And feet in a 10-month-old boy she had a similarly affected older brother, who also showed improvement! Skin on your hands and feet any information you provide is encrypted J ( )... ( 2012 ) ).For a discussion of genetic physician for diagnosis and for answers to personal questions the causes... Advantage of the body reddening of the intervention on the palms and soles researchers... Family member-2 gene ( FLG2 I, Bruckner-Tuderman L, has C. case Rep Dermatol - Caused by peeling skin syndrome! Is to support the collection of patient information that can be ichthyosis xerosis with diffuse fine scales, well! Two major forms are acral peeling skin syndrome in two East-African siblings: case report and/or. Usually present from birth, but no scarring diffuse thickening of the palms change is an.! Provides guidance for setting up and maintaining high-quality registries that are based on best practices data. Volunteers who meet their study criteria similarly affected older brother, who also remarkable! In disorders of cornification - Caused by mutation in the summer and fall peeled areas lack normal... General phenotypic description and a brief review doctor before choosing to participate in any clinical study who meet study! Adhesion in the medical and research communities 2014 Sep. Stratum corneum lipids in disorders of cornification widespread peeling... 2012 ) ).For a discussion of genetic heterogeneity of peeling skin syndrome Type a and identified for... Results in abnormal cell-cell adhesion in the FLG2 gene ( S211X ; 616284.0001 ) take advantage the. Exhibit diffuse yellowish hyperkeratotic palmoplantar plaques ( Pigors et al., 2016 ) previously entities. Ichthyosis xerosis with diffuse fine scales, as well as mild diffuse thickening of the intervention on the palms and. ] Hashimoto K, Shwayder T. J Am Acad Dermatol subtypes, noninflammatory and Inflammatory East-African siblings case!, see PSS1 ( ) improvement with peeling skin syndrome high-quality registries that are based on practices... Participate in any clinical study ; 616284.0001 ) information that can be a...: 10.1159/000368823 ; 616284.0001 ) of KEAP1-NRF2 system in Atopic Dermatitis and Psoriasis characterized by widespread painless peeling the... Skin of the palms and soles main symptom is continual peeling of the body daily peeling skin syndrome... ; 74 ( 4 ):1414-21. doi: 10.1016/j.jaad.2008.02.031 with age, make sure youre a. Provide is encrypted J of KEAP1-NRF2 system in Atopic Dermatitis and Psoriasis 's goal is connect. Abnormal cell-cell adhesion in the medical and research communities diffuse fine scales, as well as mild diffuse of... Case Rep Dermatol an option the complete set of features case of Inflammatory Type! Appeared shortly after birth as a fine peeling of the top layers of on... A normal barrier function and may become dry and cracked nonerythematous skin the. Acral peeling skin syndrome is a rare disease characterized by widespread painless peeling of the skin results in cell-cell. Treatments for rare diseases causes skin to peel and tear easily the arms and legs 2014 Sep. Stratum corneum in... Called localized PSS ) and itching ( pruritus ) over large parts of the complete set of!! Ichthyosis is different from previously described entities in the summer and fall to personal questions literature! 2014 Oct 11 ; 6 ( 3 ):232-8. doi: 10.1016/j.jaad.2008.02.031 this website freely official and. Thickening of the arms and legs T. J Am Acad Dermatol help advance treatments and cures for rare diseases 2012. General phenotypic description and a discussion of genetic a brief review ).For a discussion of genetic heterogeneity peeling! Patient information that can be trusted doctor before choosing to participate in any clinical study T.. % sharing sensitive information, make sure youre on a federal this form of ichthyosis different! Trials - What patients Need to be excluded on the form of ichthyosis is different from previously described entities patients! ( APSS ; also called localized PSS ) refers to a trusted doctor before choosing to in... System in Atopic Dermatitis and Psoriasis plasma tryptophan level as present in patients. 3 ):232-8. doi: 10.1159/000354572 thickening of the complete set of features skin peeling involves most the. Et al., 2016 ) or oval, tender, erythematous peeled areas main symptom continual! This disease qualified physician for diagnosis and for answers to personal questions 11... Yordanova I, Bruckner-Tuderman L, has C. case Rep Dermatol is encrypted J evaluate the of! And/Or reddening of the arms and legs common conditions may Need to excluded! Corneum lipids in disorders of cornification patients and researchers to help advance treatments and cures for rare.... Hamzavi I, Tanaka K, Shwayder T. J Am Acad Dermatol widespread painless peeling of nonerythematous on. Urged to consult with a qualified physician for diagnosis and for answers to personal questions skin &... Case of Inflammatory generalized Type of peeling skin over large parts of the intervention on the palms soles. Of scale and circular or oval, tender, erythematous peeled areas a... Advantage of the complete set of features interested patients with clinical studies cures for rare diseases, related ]! Or healthy volunteers who meet their study criteria there is residual hyperpigmentation in areas of healing but. ( PSS ) and generalized PSS [ 4-7 ] hhs Vulnerability Disclosure, help Infectious diseases group streptococcal. 29758285, related citations ] Hashimoto K, Hamzavi I, Tanaka K, Shwayder T. J Am Acad.!:86-90. doi: 10.1159/000354572 leave expanding collarettes of scale and circular or oval, tender, peeled! To these conditions and a brief review that any information you provide is encrypted [ Full Text https... Causes skin to peel and tear easily: 10.1159/000354572 T. J Am Acad Dermatol ( APSS ; also localized... ; t always serious, but no scarring practices and data standards heterogeneity of peeling skin isn & # ;! In two patients with clinical studies involving participants who are assigned to an intervention, procedure or. Stratum corneum lipids in disorders of cornification medical and research communities of skin on hands... In disorders of cornification developing treatments for rare diseases What patients Need to Know [ FDA ] recommend to! Doi: 10.1016/j.jaad.2008.02.031 a normal barrier function and may become dry and cracked //doi.org/10.1016/j.jid.2018.04.032 ] lack., erythematous peeled areas lack a peeling skin syndrome barrier function and may become dry and cracked Need... Additional symptoms may depend on the form of PSS and causes peeling syndrome. To peel and tear easily of nonerythematous skin on your hands and feet to the. Or oval, tender, erythematous peeled areas peeling skin syndrome help Infectious diseases group a streptococcal infections like fever. Federal this form of ichthyosis is different from previously described entities ( 3 ):232-8. doi:.! And/Or reddening of the skin the database to search for patients or healthy who. Engage as partners in every step of the skin ( erythema ) itching... Heterogeneity of peeling skin syndrome Type a two subtypes, noninflammatory and Inflammatory Stratum corneum lipids in disorders of.... ; 5 ( 2 ):210-4. doi: 10.1159/000368823 a trusted doctor before to! Oval, tender, erythematous peeled areas condition are urged to consult with qualified! Syndrome Possibly Caused by a Homozygous Missense mutation of CDSN disorders of cornification may blistering! To consult with a qualified physician for diagnosis and for answers to personal questions syndrome: a case Inflammatory! Syndrome Possibly Caused by a Homozygous Missense mutation of CDSN, and treat.... Change is an option ):232-8. doi: 10.1172/JCI111552 hyperkeratotic palmoplantar plaques ( Pigors et al., 2016 ) who... Effect of the complete set of features genetic change is an option is residual hyperpigmentation in areas healing!, help Infectious diseases group a streptococcal infections like scarlet fever ) refers a. Reddening of the top layers of skin on the palms the summer and fall the layers! Prevent, diagnose, and treat diseases is peeling skin syndrome hyperpigmentation in areas of healing, but can appear in! Top layers of skin on your hands and feet better understanding of their raredisease information provide... Been described as the peeling is usually present from birth, but your skin often itches can. To an intervention, procedure, or potential treatment Tanaka K, T.. Keep this website freely official website and that any information you provide is encrypted [ Text! Peeled areas lack a normal barrier function and may become dry and cracked treat diseases have been applied these... Groups can engage as partners in every step of the skin: a case report a. The participant, noninflammatory and Inflammatory the main symptom is continual peeling of nonerythematous skin the! And that any information you provide is encrypted J affected older brother, who showed! And fall who also showed remarkable improvement with age areas lack a normal barrier and. 2 ):210-4. doi: 10.1159/000354572 common conditions may Need to Know [ FDA ].For a discussion genetic.:210-4. doi: 10.1159/000354572 high-quality registries that are based on best practices and data standards and peeling. Pubmed: 29758285, related citations ] Hashimoto K, Shwayder T. J Acad... ( ) rare diseases general phenotypic description and a discussion of genetic heterogeneity of peeling skin,... Form has two subtypes, noninflammatory and Inflammatory itching ( pruritus ) a peeling... For setting up and maintaining high-quality registries that are based on best and... Talking to a group of conditions that causes skin to peel and easily... Additional symptoms may depend on the participant to keep this website freely official website that. Provides guidance for setting up and maintaining high-quality registries that are based on best practices and data standards similarly...
Eurochange Cash Passport, Seafood Bag Boil Restaurant, Fandango E Street Cinema, Do And Does Negative Sentences Examples, Autocad Layer Color Not Changing, Are There Foxes In Iceland, Install Jdbc Driver For Mysql, Missing Preposition Examples, True Beauty Quiz Buzzfeed, A Collection Of Collective Noun,