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") is an autosomal recessive disorder characterized by lifelong peeling of the

stratum corneum The stratum corneum (Latin for 'horny layer') is the outermost layer of the epidermis. The human stratum corneum comprises several levels of flattened corneocytes that are divided into two layers: the ''stratum disjunctum'' and ''stratum compac ...

, and may be associated with

pruritus Itch (also known as pruritus) is a sensation that causes the desire or reflex to scratch. Itch has resisted many attempts to be classified as any one type of sensory experience. Itch has many similarities to pain, and while both are unpleasant ...

, short stature, and easily removed anagen hair.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine'' (6th ed.). McGraw-Hill. . "Acral" refers to the fact that the peeling of the skin is most noticeable on the hands and feet of this state. Peeling happens sometimes on the arms and legs, too. The peeling is typically apparent from birth, although it may start in childhood or later on in life as well. Skin peeling is caused by sun, humidity, moisture, and friction. The acral form can be associated with '' TGM5''.

Syndromes

Peeling skin syndrome is also associated with 6 syndromes that are each caused by a different genetic defect. The various syndromes include peeling skin syndrome 1, 2, 3, 4, 5, and 6.

Peeling skin syndrome 1

Peeling skin syndrome 1 is caused by a genetic defect in the

corneodesmosin Corneodesmosin is a protein that in humans is encoded by the ''CDSN'' gene. This gene encodes a protein found in corneodesmosomes, which localize to the human epidermis and other cornified squamous epithelia. During maturation of the cornified lay ...

(CDSN) gene. This gene localizes to the human epidermis and other epithelia. The protein experiences a chain of cleavages during corneocyte maturation. Its symptoms include short stature, abnormality of metabolism/homeostasis, scaling skin, pruritus, erythema, asthma, brittle hair, and abnormality of hair texture.

Peeling skin syndrome 2

Peeling Skin Syndrome 2 is caused by a genetic defect in the TGM5 gene. Transglutaminase 5 is best for catalyzing the cross-linking of proteins and the conjugation of

polyamine A polyamine is an organic compound having more than two amino groups. Alkyl polyamines occur naturally, but some are synthetic. Alkylpolyamines are colorless, hygroscopic, and water soluble. Near neutral pH, they exist as the ammonium derivatives. ...

s to proteins. It also adds to the development of the cornified cell envelope of keratinocytes. Its symptoms include excessive wrinkling of palmar skin, skin erosion, hyperpigmentation of the skin, ichthyosis, and allergy.

Peeling skin syndrome 3

Peeling skin syndrome 3 is caused by a genetic defect in the

carbohydrate sulfotransferase Carbohydrate sulfotransferases are sulfotransferase enzymes that transfer sulfate to carbohydrate groups in glycoproteins and glycolipids. Carbohydrates are used by cells for a wide range of functions from structural purposes to extracellular com ...

(CHST8) gene. This gene is characterized by a way of asymptomatic lifelong and non-stop dropping of the stratum corneum of the dermis. Its symptoms begin for the duration of the second half of the primary decade of existence and encompass generalized white scaling taking place over the upper and lower extremities.

Peeling skin syndrome 4

Peeling skin syndrome 4 is caused by a genetic defect in the

cystatin A Cystatin-A is a protein that in humans is encoded by the ''CSTA'' gene. The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have los ...

(CSTA) gene. This gene is an intracellular thiol proteinase inhibitor. It has an essential role in desmosome-mediated cell-cellular adhesion inside the lower levels of the dermis. Its symptoms include well-circumcised peeling of skin on the extremities and neck, generalized dry skin with fine scaling and sparing of face, hyperkeratosis, and palmoplantar keratoderma

Peeling skin syndrome 5

Peeling skin syndrome 5 is caused by a genetic defect in the

serpin Serpins are a superfamily of proteins with similar structures that were first identified for their protease inhibition activity and are found in all kingdoms of life. The acronym serpin was originally coined because the first serpins to be ide ...

(serpin family member 8) gene. This gene is produced by platelets and can bind to and inhibit the function of furin, which is a serine protease involved in platelet functions. It is also characterized by superficial peeling of the dorsal and palmar pores and skin of the hands and feet; the pores and skin of the forearms and legs may also be involved. Its symptoms include superficial peeling of small areas of the skin that involve the dorsal and palmar surfaces of the hands and feet, superficial scaling of forearms and legs, and acanthosis.

Peeling skin syndrome 6

Peeling skin syndrome 6 is caused by a genetic defect in the

filaggrin Filaggrin (filament aggregating protein) is a filament-associated protein that binds to keratin fibers in epithelial cells. Ten to twelve filaggrin units are post-translationally hydrolyzed from a large profilaggrin precursor protein during termin ...

(filaggrin family member 2) gene. The function for this gene is vital for normal cellular-cell adhesion within the cornified cell layers. It is also critical for the integrity and mechanical strength of the stratum corneum of the epidermis. Its symptom include dryness of the skin, peeling of the skin. erythema at lesion sites, bullae, and hyper-pigmentation.

Symptoms and signs

* Abnormal blistering of the skin * Abnormality of hair texture *

Dry skin Xeroderma, xerosis or xerosis cutis, or simply dry skin, is a skin condition characterized by excessively dry skin. The medical term ''xeroderma'', meaning "dry skin", derives from modern Latin, ''xero-'' 'dry' + Greek ''derma'' 'skin'. In most ...

Aminoaciduria Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy kidney, the glomeruli filter all amino acids out of the blood, and the renal tubules then reabsorb over 95% of the filtered amino acids back into t ...

Hyperhidrosis Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature. Although primarily a benign physical burden, hyperhidrosis can deteriorate quality of life from a psycholog ...

Ichthyosis Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominan ...

Treatment

There is no remedy for peeling skin syndrome. Treatment focuses on avoiding skin damage and treating symptoms as they occur. Ointments are also used to minimize skin peeling and when the blister grows, sterile needles may be activated. The condition can be exacerbated by hot temperatures, humidity, and friction. Individuals should be informed to avoid exacerbating triggers such as trauma, humidity, heat, perspiration, and water.

Frequency

Only several dozen cases have been reported in the literature, making it rare, but because its symptoms are mild and similar to other disorders it could very well be under-diagnosed.

References

* Cabral, Rita M.; Kurban, Mazen; Wajid, Muhammad; Shimomura, Yutaka; Petukhova, Lynn; Christiano, Angela M. (2012-04). "Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome". Genomics. 99 (4): 202–208. doi:10.1016/j.ygeno.2012-01-005. ISSN 1089-8646. PMC 4362535. .

External links

{{Medical resources , DiseasesDB = , ICD10 = {{ICD10, Q, 80, 8, q, 80 , ICD9 = , ICDO = , OMIM = 270300 , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = , Orphanet = 817 Genodermatoses Genetic disorders with OMIM but no gene Syndromes