In this study, we investigated a hungarian patient, whose clinical symptoms suggested the localized form of ebs. Peeling skin syndrome pss type b, also known as peeling skin disease psd, is a rare. Specific diseases and conditions that can cause peeling skin include. A collection of disease information resources and questions answered by our. Mar 19, 2012 acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5. Other symptoms include abdominal pain, bleeding andor nausea with vomiting. Peeling skin syndrome, acral type definition of peeling.
Peeling skin syndrome serves as a model for studying the stratum corneum. The acral peeling skin syndrome apss is a rare autosomal recessive disorder clinically characterized by. The first episode occurred 4 years prior, followed by perennial skin peeling during the spring seasons. Peeling skin syndrome is a rare genodermatosis characterized by variably pruritic superficial generalized peeling of the skin with several genes involved until now little is known about the association between flg2 and peeling skin syndrome. Acral peeling skin syndrome genetic and rare diseases. Therefore, i suggest distinguishing between the peelingskin syndrome, type a cases similar to that of fox and the peelingskin syndrome, type b cases similar to those of wile.
More detailed information about the symptoms, causes, and treatments of peeling skin syndrome is available below. Less than 100 cases have been reported in the medical literature. Peeling skin syndrome tastan 1999 international journal. Rash, itching, dryness and other irritating skin problems may accompany peeling skin.
Peeling skin syndrome pss or peeling skin disease is a rare, autosomal, recessively inherited ichthyosiform genodermatoses characterized by asymptomatic peeling of superficial skin in large sheets, which was first described as a case report in 1921 by fox. Acral peeling skin syndrome apss is a rare autosomal recessive skin disorder characterized by painless, superficial blistering and peeling of the hands and feet. Inflammatory peeling skin syndrome caused a novel mutation. Peeling skin syndrome due to variants in the chst8 and csta genes were reported in consanguineous pakistani and in bedouin families, respectively. Peeling skin syndrome pss 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 andor inflammation. Physical examination showed widespread discrete peeling skin patches of variable size and shape with underlying erythema fig. Generalized ichthyotic peeling skin syndrome due to flg2. Genomewide linkage analysis in two unrelated apss families cassidy et al. Peeling skin syndrome is a rare autosomal recessive disease characterized by.
Pss is an example of unobvious skin histopathology. Sep 19, 2018 the main cause of peeling skin syndrome is a defective gene. This occurs through the interplay between proteases and their inhibitors that control the degradation of corneodesmosomes. A very rare inherited disorder where the skin peels continually. Generalized peeling skin syndrome genetic and rare. Enhanced proteolytic activities in acral peeling skin. The term acral refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Pdf p peeling skin syndrome is a rare autosomal recessive disorder of cornification that starts either at birth or. Peeling skin syndrome definition, treatment and prevention. The acral peeling skin syndrome apss congenital or familial acral peeling is extremely rare. Thickened skin, similar to what a callus looks like mild or bright redness swelling blistering symptoms of handfoot skin reaction usually appear on parts of your body that you put a lot of pressure on, such as on toe pads, in between the toes, and the sides of the feet. In a clinical feature, patients affected endured regular, painless, and skin peeling. Treatment treating peeling skin syndrome by applying skin softening.
It is when the child inherits the defective copy of the gene from both the parents that peeling skin syndrome surfaces. Acral peeling skin syndrome jama dermatology jama network. Peeling skin conditions primary care dermatology society. The skin peeling occurs at the separation of the stratum corneum from the stratum granulosum. Treatment is symptomatic, with emollients and measures aimed at reducing maceration and trauma. Localized pss is caused by mutations in tgm5 and csta blaydon et al. Peeling skin syndrome pss is a heterogeneous group of rare autosomal recessive disorders characterized by superficial painless peeling and blistering of the skin without mucosal fragility. A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. Peeling skin syndrome pss refers to a rare group of heterogeneous autosomal recessive diseases that manifest as superficial skin peeling without mucosal peeling. Only a few reports of peeling skin syndrome have been published and they all describe widespread peeling. Fever, rash, and peeling skin mdedge family medicine. Peeling skin syndrome localized to the acral surfaces represents a new variant.
Two major clinical types of pss have been reported. Peeling skin syndrome pss refers to a complex group of autosomal recessive disorders of cornification featuring superficial detachment of the epidermal cornified cell layers with no mucosal fragility kose et al. Peeling skin conditions primary care dermatology society uk. Diagnostic methods clinical presentation is highly suggestive of the disease. Genetic investigation confirms acral peeling skin syndrome in. We present a case of two siblings who developed continuous peeling of the palms and soles from the first year of life. Epidermolysis bullosa simplex superficialis is further differentiated from peeling skin syndrome by the presence of blisters and the absence of spontaneous continual exfoliation or peeling. Peeling skin syndrome 3 is caused by a genetic defect in the carbohydrate sulfotransferase chst8 gene. Filaggrin 2 deficiency results in abnormal cellcell adhesion. Peeling skin syndrome pss is a rare autosomal recessive cornification disorder that is both clinically and. Peeling skin syndrome pss is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. Pdf novel tgm5 mutations in acral peeling skin syndrome. In an acral form of the disorder pss2, the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis summary by cassidy et al.
Eosinophilic fasciitis shulman syndrome mdedge dermatology. Genetic investigation confirms acral peeling skin syndrome. Peeling skin syndrome 4 is caused by a genetic defect in the cystatin a csta gene. This gene is an intracellular thiol proteinase inhibitor. Pss4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of nonerythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Novel tgm5 mutations in acral peeling skin syndrome. Acral peeling skin syndrome genetics home reference nih. The 2 conditions are distinguished by how much of the body surface area bsa is involved. A case of inflammatory generalized type of peeling skin syndrome. Peeling skin is unintended damage to and loss of the upper layer of your skin epidermis.
Peeling skin syndromes form a large and heterogeneous group of inherited disorders characterized by superficial detachment of the epidermal cornified cell layers, often associated with inflammatory features. Apr 14, 2016 acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. The defect is a mutation in gene encoding for the corneodesomin, which plays an important role in adhesion of the corneocytes. Biophysical profile, which includes skin hydration, transepidermal water loss, sebum content, skin ph, of this patient was assessed from 7 different sites using the corneometer, tewameter, sebumeter, skin phmeter. Electron microscopy analysis of skin biopsies, reveals mostly normalappearing upper layers. This gene is characterized by a way of asymptomatic lifelong and nonstop dropping of the stratum corneum of the dermis. Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Peeling skin syndrome nord national organization for rare. The symptoms of handfoot syndrome and handfoot skin reaction can range from. Description 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. The acral form of peeling skin syndrome, as the name suggests, involves mainly palmar and plantar skin. Adultonset acral peeling skin syndrome in a nonidentical twin.
Pdf on mar 1, 2004, mukhopadhyay amiya kumar published peeling skin. Three types of pss have been characterized based on the areas of skin affected, presence of systemic manifestations, and distinct genetic mutations. Long term follow up of 259 cases of kawasaki disease led to the observation that 11% of children have episodes of recurrent peeling of the skin for several years after their recovery. It has an essential role in desmosomemediated cellcellular adhesion inside the lower levels of the dermis. Peeling skin syndrome nord national organization for.
Peeling skin syndrome are you confident of the diagnosis. Peeling skin syndrome genetic and rare diseases information. We describe a 34yearold man with a lifelong history of spontaneous asymptomatic peeling skin limited to the acral surfaces. No effective treatment has been reported, especially for pruritus. Eosinophilic fasciitis is an inflammatory disease of unknown etiology that affects the muscular fascia and is characterized by a considerable increase of serous and tissue eosinophils, with hypergammaglobulinemia. Peeling skin syndrome pss, first described in the early twentieth century fox, 1921, is a rare cutaneous genodermatosis that is classified into two forms. Generalised peeling skin syndrome is an autosomal recessive ichthyosiform disorder characterised by asymptomatic continuous or periodic generalised peeling of the skin, with or without trauma. Find more information on this unusual disorder in this article peeling skin syndrome pss is a rare genetic disorder characterized by continuous peeling of the stratum corneum, which is the outermost layer of the skin. It may also be a sign of an immune system disorder or other disease. For peeling skin syndrome 2, it is an autosomal recessive inheritance disorder. Alerts and notices synopsis acral peeling skin syndrome pss. Patients with noninflammatory pss type a manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy.
Peeling skin syndrome pss, first described in the early twentieth century fox, 1921, is a. Peeling skin syndrome inclusion criteria 36543 generalised peeling skin with or without atopy, or acral peeling skin tgm5 mutations excluded, or peeling skin in association with other features, or and diagnosis of peeling skin syndrome confirmed by consultant dermatogist peeling skin syndrome exclusion criteria 36543 peeling skin cases that have not had the genetic. Generalized peeling skin syndrome pss is a rare autosomal recessive dermatosis manifesting with continuous exfoliation of the stratum corneum. Peeling skin treatments more information peeling skin frequently asked. Inflammatory peeling skin syndrome caused a novel mutation in. The signs and symptoms of peeling skin syndrome usually appear soon after birth, but they may also develop later in life. Genetic disease, including a rare skin disorder called acral peeling skin syndrome that causes painless peeling of the top layer of skin. More severe rash features blistering and peeling skin l gastrointestinal gi tract disorders the most classic sign of gi gvhd is diarrhea, caused by an inflammation of the colon, and it can be as severe as several liters of stool each day. The two major forms of pss are acral pss apss and generalized pss 36. Skin peeling refers to exaggerated visible superficial desquamation and can occur in inherited and acquired conditions. Mar 30, 2010 peeling skin syndrome is a genetic disorder characterized by continual peeling of the skin.
Generalized peeling skin syndrome pss is a form of pss see this term presenting with a generalized distribution. There is currently no cure for apss, therefore treatment is centred on preventing skin damage and helping to reduce symptoms. Filaggrin 2 deficiency results in abnormal cellcell. Acral peeling skin syndrome is often caused by mutations in the tgm5 gene. Here we report on a consanguineous family featuring noninflammatory peeling of the skin exacerbated by exposure to heat and mechanical stress. Epidermal desquamation is the highly regulated process of invisible shedding of corneocytes from the outermost layers of the stratum corneum. The defect is a mutation in gene encoding for the corneodesomin, which plays an. A histological examination revealed a split above the granular layer without inflammatory response. Peeling skin syndrome pss is a rare genodermatoses, probably of autosomal recessive inheritance with variable age of onset from birth to adulthood. Peeling skin syndrome associated with novel variant in. If you have problems viewing pdf files, download the latest version of adobe reader. Peeling skin syndrome is a rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Localized epidermolysis bullosa simplex ebs, localized form, omim 1800 is a rare monogenic skin disease characterized by the development of blisters on the hands and feet. Ilknur t1, demirtasoglu m, akarsu s, lebe b, gunes at, ozkan s.
Peeling skin syndrome symptoms, diagnosis, treatments and. Clinical classification of cases of toxic epidermal necrolysis, stevensjohnson syndrome, and erythema multiforme. Acral peeling skin syndrome resembling epidermolysis bullosa. Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. Derangement was observed in all the above parameters. Peeling skin syndrome associated with novel variant in flg2. We present a 32yearold man having asymptomatic peeling of skin since birth. Peeling skin syndrome pss is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial skin peeling.
His parents were first cousins, but were unaffected by peeling skin syndrome. Peeling skin syndrome is a rare inherited disorder that, in theory, affects males and females in equal numbers. Any changes or mutations in the gene called tgm5 have also been identified to be the cause of peeling skin syndrome becoming apparent. The signs and symptoms of peeling skin usually appear soon after birth, but they may also develop later in life. Affected individuals may also experience itching and reddening of the skin. The inflammatory type b subtype of pss was recently found to be caused by deleterious mutations in the cdsn gene encoding corneodesmosin, a major component of desmosomal junctions in the uppermost layers of the epidermis. This means that peeling skin syndrome, or a subtype of peeling skin syndrome, affects less than. Peeling skin may occur because of direct damage to the skin, such as from sunburn or infection. Acral peeling skin syndrome apss, omim 609796 is a monogenic condition characterized by superficial painless peeling of the skin predominantly on the dorsal aspects of hands and feet. 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. This peeling was more severe on the soles than palms and on. Peeling skin syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Etiology is still unknown with an autosomal recessive inheritance.
In the skin, it has superficial skin peeling, mainly limiting to the hands and feet, erythema, nonscarring healing, blistering, and normal nails. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the epidermis the outer layer of skin. Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a. Recurrent skin peeling following kawasaki disease archives. Patients must avoid immersion in water and are recommended to use absorbing powders or aluminum antiperspirants. Occasionally, peeling also occurs on the arms and legs. The first was a consanguineous family from tunisia, in which a brother and sister exhibited painless superficial peeling of small areas of the palmar and dorsal skin of the hands and feet, with underlying erythema.
Heat, humidity, exposure to water and friction or minor trauma can induce. A homozygous missense mutation in tgm5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Inflammatory pss type b is associated with generalized erythema, pruritus and atopy. What is peeling skin syndromecausessymptomstreatmentdiagnosis. Pss has been associated with a heterogeneous group of mutations in various genes involved in corneocyte. Peeling skin syndrome is a rare genetic disorder, which causes continuous peeling of skin. Peeling skin syndrome pss is a group of rare inherited skin disorders in which the. What is peeling skin syndromecausessymptomstreatment. Peeling skin syndrome pss is a rare form of ichthyosis with a probable autosomal recessive inheritance that exhibits superficial, painless, continual, or seasonal cutaneous exfoliation.
Mar 27, 2020 genetic disease, including a rare skin disorder called acral peeling skin syndrome that causes painless peeling of the top layer of skin. Very little is currently known on the pathogenetic mechanisms underlying apss disease except that it is caused by mutations in the tg5 gene encoding transglutaminase 5 tg5. This means that a person with apss has inherited a defective copy of the gene from both parents. Biophysical profile of a case of peeling skin syndrome a. The peeling is usually evident from birth, although the condition.
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