Peeling skin syndrome localized to the acral surfaces represents a new variant. Peeling skin conditions primary care dermatology society uk. 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. This form is caused by the transglutaminase5 tgm5 gene which is responsible for producing a localized symptom or symptoms. In saudi arabia, consanguinity of parents is common and consequently the occurrence of famil.
Peeling skin syndrome pss, refers to a rare form of ichthyosis associated with superficial, painless, continual, or seasonal exfoliation. For peeling skin syndrome 2, it is an autosomal recessive inheritance disorder. In the skin, it has superficial skin peeling, mainly limiting to the hands and feet, erythema, nonscarring healing, blistering, and normal nails. Genetic investigation confirms acral peeling skin syndrome. Depending on which medication youre taking, you may have any of the following symptoms on your palms and soles. The defect is a mutation in gene encoding for the corneodesomin, which plays an important role in adhesion of the corneocytes. Acral peeling skin syndrome is often caused by mutations in the tgm5 gene. Mar 19, 2012 acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5.
Acral peeling skin syndrome genetics home reference nih. 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. Specific diseases and conditions that can cause peeling skin include. Localized pss is caused by mutations in tgm5 and csta blaydon et al. Acral peeling skin syndrome resembling epidermolysis bullosa. Eight cases of peeling skin syndrome in 4 families were recorded over a period of 5 years. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the epidermis the outer layer of skin. The acral peeling skin syndrome apss is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at stratum granulosum and stratum corneum level. Skin peeling syndrome in a kurdish family jama dermatology. Stinging tingling,or pain that feels like burning, especially in your fingertips and toes. Staphylococcal scalded skin syndrome ssss is a serious skin infection caused by the bacterium staphylococcus aureus. Acral peeling skin syndrome jama dermatology jama network.
Skin peeling syndrome sps is an uncommonly reported disorder having onset after birth or in adulthood, characterized by spontaneous, pruritic, continual peeling of the skin with or without associated vesiculation. Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. Generalized ichthyotic peeling skin syndrome due to flg2. Peeling skin syndrome nord national organization for rare. Adultonset acral peeling skin syndrome in a nonidentical twin. Although it has been suggested traupe, 1989 that the generalized form can be further subdivided into noninflammatory type a and inflammatory. The peeling skin syndrome pss refers to a group of rare autosomal recessive conditions characterised by episodic or persistent, superficial, asymptomatic, spontaneous peeling of the skin and histologically by a separation of the stratum corneum from the stratum granulosum at the subcorneal level. 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.
The disease is of long duration and is apparently of an autosomal recessive mode of inheritance. Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells. Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. His parents were first cousins, but were unaffected by peeling skin syndrome. A 34yearold white man was referred to us for possible epidermolysis bullosa. Acral peeling skin syndrome is a rare, congenital subtype of peeling skin syndrome affecting the dorsal and volar aspects of hands and feet. Peeling skin syndrome pss is a rare genodermatoses of probable autosomal recessive inheritance. Acral peeling skin syndrome is a rare disease with unknown prevalence and with dozens of cases described in the medical. Peeling skin syndrome is a genodermatoses commonly seen in communities where consanguinity of marriage is prevalent. As the body of literature is growing, it becomes apparent that the condition is. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the outer layer of skin the epidermis. A homozygous missense mutation in tgm5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Peeling skin syndrome pss is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial skin peeling.
Occasionally, peeling also occurs on the arms and legs. These blisters initiate the process of skin peeling and get intensified with time. 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. The peeling is usually evident from birth, although the condition. A case of lateonset peeling skin syndrome likely triggered by. Acral peeling skin syndrome genetic and rare diseases. Peeling skin syndrome associated with novel variant in. Peeling skin syndrome pss is a rare genodermatoses, probably of autosomal recessive inheritance with variable age of onset from birth to adulthood.
Symptoms of handfoot syndrome and handfoot skin reaction can begin 3 to 6 weeks after starting chemotherapy. Peeling skin syndrome is a genetic disorder characterized by continual. 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. The acral peeling skin syndrome apss is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by. Pdf on mar 1, 2004, mukhopadhyay amiya kumar and others published peeling skin syndrome find, read and cite all the research you need on. Peeling skin syndrome is a rare genetic disorder, which causes continuous peeling of skin. Acral peeling skin syndrome resembling epidermolysis. Any changes or mutations in the gene called tgm5 have also been identified to be the cause of peeling skin syndrome becoming apparent.
Apr 19, 2019 acral peeling skin syndrome is a rare disease with unknown prevalence and with dozens of cases described in the medical literature so far. Peeling skin syndrome is a rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. While it typically manifests from early childhood, in this first reported case from south africa, the patient did not manifest clinically until the fourth decade of life. 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. In a clinical feature, patients affected endured regular, painless, and skin peeling. The two major forms of pss are acral pss apss and generalized pss 36. Pdf novel tgm5 mutations in acral peeling skin syndrome. Peeling skin syndrome pss, first described in the early twentieth century, is a rare cutaneous genodermatosis that is classified into two forms. Physical examination showed widespread discrete peeling skin patches of variable size and shape with underlying erythema fig.
The most common symptom of peeling skin syndrome is the abnormal patches of redness and blistering of the skin. Acral peeling skin syndrome apss is a rare genetic skin fragility condition. 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. Peeling skin conditions primary care dermatology society. We describe multiple family members from a consanguineous saudi family with peeling skin syndrome. Background acral peeling skin syndrome is a rare autosomal recessive disorder in which skin exfoliation is limited to the hands and feet. Peeling skin syndrome associated with novel variant in flg2. 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. Jan 04, 2019 peeling skin desquamation is the loss or shedding of the outer layer of your skin epidermis. Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. This bacterium produces an exfoliative toxin that causes the outer layers of. Apr 14, 2016 acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. Occurrence of vesicles and bullae in peeling skin syndrome is very rare.
Pdf p peeling skin syndrome is a rare autosomal recessive disorder of cornification that starts either at birth or later in childhood. The acral form of peeling skin syndrome, as the name suggests, involves mainly palmar and plantar skin. What is peeling skin syndromecausessymptomstreatmentdiagnosis. We describe a 34yearold man with a lifelong history of spontaneous asymptomatic peeling skin limited to the acral surfaces. We present a case of two siblings who developed continuous peeling of the palms and soles from the first year of life. Affected individuals may also experience itching and reddening of the skin. Peeling skin syndrome tastan 1999 international journal. We report a case of idiopathic peeling skin syndrome with vesicular lesions.
Skin peeling syndrome sps is a rare genodermatosis, with variable age of onset from birth 1 to adulthood. 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. The patients of peeling skin syndrome have reported to have extremely dry skin. Case report a 44yearold woman of african descent, 1 of a set of nonidentical twins. Peeling skin syndrome pss is a rare recessively inherited ichthyosiform genodermatoses. The latter is subclassified into noninflammatory or type a pss and inflammatory or type b pss. Factitial cheilitis can present as exfoliative cheilitis when it is due to attentionseeking or factitial behaviour or an obsessivecompulsive tendency to pick or chap the lips exfoliative. Pdf adultonset acral peeling skin syndrome in a non. Fever, rash, and peeling skin mdedge family medicine. Peeling skin desquamation is the loss or shedding of the outer layer of your skin epidermis.
Mar 30, 2010 peeling skin syndrome is a genetic disorder characterized by continual peeling of the skin. Peeling skin on the hands and feet in children can be caused by direct damage to the skin or by a wide variety of mild to serious diseases, disorders and conditions. He reported a lifelong history of peeling skin, mainly on both. In this issue, israeli and colleagues confirm that homozygous mutations in corneodesmosin cdsn cause type b peeling skin syndrome pss, an autosomal. Acral peeling skin syndrome is a rare autosomal recessive disorder in which skin exfoliation is limited to the hands and feet. 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 peeling skin syndrome is caused by mutations in the tgm5 gene. Case report a 44yearold woman of african descent, 1 of a set of non.
Peeling skin syndrome pss is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. 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. This peeling was more severe on the soles than palms and on. The main symptom is painless peeling of the skin, mainly on. The cutaneous manifestations consist of lifelong, episodic or continuous, painless, noninflammatory peeling of dorsal and volar aspects of. Stevensjohnson syndrome and toxic epidermal necrolysis are two forms of the same lifethreatening skin disease that cause rash, skin peeling, and sores on the mucous membranes. Handfoot syndrome and handfoot skin reaction memorial. Peeling skin syndrome pss is a rare genodermatoses characterized by asymptomatic, localized or generalized, continuous exfoliation of the stratum corneum. The acral peeling skin syndrome apss is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level kiritsi et al j invest dermatol 2010.
Acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5. Skin peeling syndrome sharma r, kumar a indian j dermatol. Peeling skin syndrome in eight cases of four different families from. The two major forms of pss are acral pss apss and generalized pss. Stevensjohnson syndrome sjs and toxic epidermal necrolysis. The 2 conditions are distinguished by how much of the body surface area bsa is involved. When the symptoms of this condition are limited to the arms and legs, then we say or refer to that as an acral extremities or simply acral peeling skin syndrome. Peeling skin syndrome genetic and rare diseases information. Exfoliative cheilitis is a rare reactive condition presenting as continuous peeling of the lips. The term acral refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. In this study, we investigated a hungarian patient, whose.
The signs and symptoms of peeling skin syndrome usually appear soon after birth, but they may also develop later in life. Electron microscopy analysis of skin biopsies, reveals mostly normalappearing upper layers. Pss has been associated with a heterogeneous group of mutations in various genes. It is when the child inherits the defective copy of the gene from both the parents that peeling skin syndrome surfaces. See also introduction to hypersensitivity reactions and inflammatory skin disorders. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. 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. 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. Only a few reports of peeling skin syndrome have been published and they all describe widespread peeling. Peeling skin syndrome nord national organization for.
Peeling skin syndrome is a genetic disorder characterized by continual peeling of the skin. Genetic disease, including a rare skin disorder called acral peeling skin syndrome that causes painless peeling of the top layer of skin. Pss is characterized by painless, continual, spontaneous skin peeling exfoliation due to a separation of the outermost layer of the epidermis stratum. 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. The skin peeling occurs at the separation of the stratum corneum from the stratum granulosum. Alerts and notices synopsis acral peeling skin syndrome pss.
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