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Peeling Skin Syndrome

PSS


Presentation

  • This case is being presented due to its rarity.[ncbi.nlm.nih.gov]
  • Mild lymphocytic infiltrate was present in epidermis Click here to view PSS is a genodermatosis commonly affecting communities where consanguinity of marriage is present.[doi.org]
Asymptomatic
  • Peeling Skin Syndrome (PSS) is a rare genodermatoses characterized by asymptomatic, localized or generalized, continuous exfoliation of the stratum corneum; it may present at birth or in adulthood.[ncbi.nlm.nih.gov]
  • PSS type A is characterized by noninflammatory and asymptomatic peeling. Onset is congenital or before 6 years of age.[doi.org]
Developmental Delay
  • His growth and IQ assessment was normal with no developmental delay. He was the eldest of three siblings. Similar history of peeling of the skin of the dorsa of hands and feet since birth was also present in his two younger siblings.[astrocyte.in]
Anosmia
  • Disease associations have been reported and include fragile hair, koilonychia, onycholysis, chapping, keratoderma, sexual dysfunction, anosmia, short stature, primary amenorrhoea, cheilitis, keratosis pilaris, melanonychia, clubbing and hyperhidrosis.[ncbi.nlm.nih.gov]
  • […] this disorder is unknown. [5] It has been postulated that the defect is reduced adherence of abnormally thick stratum corneum to the stratum granulosum. [6] In some patients, association of easy pluckability of hair, shedding of nails, hypogonadism and anosmia[ijdvl.com]
Rhinitis
  • History of atopy was present in the form of rhinitis, along with sneezing on change of weather. However, there was no history of asthma in self or in the family. His growth and IQ assessment was normal with no developmental delay.[astrocyte.in]
Failure to Thrive
  • Affected patients may present with failure to thrive and recurrent secondary infections (especially with Staphylococcus aureus).[dermatologyadvisor.com]
  • Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK. Dermatol. In Press. Muttardi K, Nitoiu D, Kelsell DP, O’Toole EA, Batta K.[rarediseases.org]
Cheilitis
  • Disease associations have been reported and include fragile hair, koilonychia, onycholysis, chapping, keratoderma, sexual dysfunction, anosmia, short stature, primary amenorrhoea, cheilitis, keratosis pilaris, melanonychia, clubbing and hyperhidrosis.[ncbi.nlm.nih.gov]
  • Type C starts in infancy and severe palmoplantar subcorneal blistering, ichthyosis, and keratotic cheilitis (PSS typeC). Electron microscopy of skin is helpful. Many patients have elevated IgE. No effective treatment is reported till date.[doi.org]
Hyperkeratosis
  • Histopathology in this condition reveals hyperkeratosis and splitting of the epidermis between the granular layer and the stratum corneum. No treatment for this disorder has been found to be effective so far.[ncbi.nlm.nih.gov]
  • In contrast, our case showed neither stuck hyperkeratosis nor subcorneal cleavage, and the image was rather characterized by basket weave-type hyperkeratosis and possible shedding of the corneal sheet amid the stratum corneum.[karger.com]
  • There is a very marked variation in the number, size, shape, distribution and location of the lesions Over time the hyperkeratosis develops, which may be generalised or localised with well-defined, yellow-brown, thickened, rough, hyperkeratotic plaques[pcds.org.uk]
Koilonychia
  • Disease associations have been reported and include fragile hair, koilonychia, onycholysis, chapping, keratoderma, sexual dysfunction, anosmia, short stature, primary amenorrhoea, cheilitis, keratosis pilaris, melanonychia, clubbing and hyperhidrosis.[ncbi.nlm.nih.gov]
Angioedema
  • A review of the patient’s history will reveal atopy that can manifest as food allergies, severe pruritus, asthma, angioedema, and urticaria.[dermatologyadvisor.com]
Sexual Dysfunction
  • Disease associations have been reported and include fragile hair, koilonychia, onycholysis, chapping, keratoderma, sexual dysfunction, anosmia, short stature, primary amenorrhoea, cheilitis, keratosis pilaris, melanonychia, clubbing and hyperhidrosis.[ncbi.nlm.nih.gov]

Workup

Ceruloplasmin Increased
  • Other diagnostic abnormalities that appear sporadically in case reports were abnormal tryptophan levels, aminoaciduria, elevated serum copper, elevated ceruloplasmin, increased iron and iron-binding capacity, and abnormal epidermal retinoid metabolism[dermatologyadvisor.com]
Lymphocytic Infiltrate
  • Mild lymphocytic infiltrate was present in epidermis Discussion PSS is a genodermatosis commonly affecting communities where consanguinity of marriage is present.[ncbi.nlm.nih.gov]
  • Mild lymphocytic infiltrate was present in epidermis Click here to view PSS is a genodermatosis commonly affecting communities where consanguinity of marriage is present.[doi.org]
  • Histopathological examination showed sparse superficial perivascular lymphocytic infiltrates with hypergranulosis and lamellated orthohyperkeratosis in the epidermis. An incomplete cleft was seen above the granular layer ( figure 2 ).[casereports.bmj.com]

Treatment

  • However, the patient then discontinued treatment.[ncbi.nlm.nih.gov]
  • No effective treatment is reported till date. However, some improvement is seen with keratolytic agents and urea. Topical calcipotriol is also found to be little effective.[doi.org]
  • Treatment Acral PSS: There is no specific treatment for APSS, and current treatment is aimed at symptomatic relief. Patients should be educated about how scratching can lead to scarring and secondary complications.[dermatologyadvisor.com]

Prognosis

  • Peeling skin syndrome is a rare blistering disorder of the newborn that should be recognized because it has a good prognosis. Eosinophils may play an important role in the cutaneous split of this congenital ichthyosis.[ncbi.nlm.nih.gov]
  • (Outcomes/Resolutions) The prognosis of Scalded Skin Syndrome in most children is excellent.[dovemed.com]
  • Prognosis Most patients heal from SSSS within about 10-14 days. Healing occurs without scarring in the majority of patients. Death may occur if severe dehydration or sepsis complicate the illness.[encyclopedia.com]
  • With timely treatment, the prognosis is excellent. Treatment involves antibiotics given intravenously. Certain types of staphylococci bacteria secrete toxic substances that cause the top layer of the epidermis to split from the rest of the skin.[merckmanuals.com]

Etiology

  • Next Generation Sequencing identifies a cosegregating novel variant in FLG2 c.632C G (p.Ser211*) as a likely etiology in this family.[ncbi.nlm.nih.gov]
  • Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth.[doi.org]

Epidemiology

  • The epidemiology of Sjogren's syndrome. Clinical Epidemiology . July 2014. Prevalence and predictors of Sjogren's syndrome in a prospective cohort of patients with aqueous-deficient dry eye. British Journal of Ophthalmology . December 2012.[allaboutvision.com]
  • Hyperhidrosis (excessive sweating) References (drugs)/Pages/Introduction.aspx Further Reading Cushing's Syndrome Diagnosis Cushing's Syndrome Signs and Symptoms Cushing's Syndrome Treatment Cushing's Syndrome Epidemiology[news-medical.net]
  • Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016;152(11):1231–1238. doi: 10.1001/jamadermatol.2016.2473.[elynsgroup.com]
  • As a result there is likely to be a spectrum of disease and there are likely to be a number of milder cases of adult SSSS that go undiagnosed. [ 5 ] Epidemiology [ 3 ] SSSS typically affects neonates and children aged under 5 years, but may also occur[patient.info]
  • Epidemiology • predominantly in infants and children younger than 5 years of age and rarely occurs in adults • Due to circulating antibodies and renal excretion of toxins • most cases are caused by type 71 strain (75%) • no differences in incidence based[de.slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • PATHOPHYSIOLOGY 7. PATHOPHYSIOLOGY 8. DIAGNOSIS • Gram stain or Culture: from the remote site of infection • Skin biopsy or Frozen Section • PCR 9. Management 10.[de.slideshare.net]
  • COMMENT The etiology and pathophysiology of staphylococcal scalded skin syndrome were a mystery to Gottfried Ritter von Rittershain 1 when he originally described 297 cases of this entitity, which became known as Ritter’s disease. 1 Recently, 100 years[cirp.org]

Prevention

  • Some researchers believe that drugs which are created from vitamin A could be a key to preventing and eliminating the peeling skin, and these can include tretinoin and etretinate.[nutralegacy.com]
  • Light dressings should be applied to prevent infection. The condition may be made worse by hot temperatures, high humidity, and friction.[rarediseases.info.nih.gov]
  • The idea is to prevent catching and tearing into the living skin, which might invite infections. It looks like heck, but it's painless, not contagious, and he just puts up with it. It's so helpful to have an explanation, finally.[laureljamieson.livejournal.com]
  • TGM5 gene mutations reduce the production of transglutaminase 5 or prevent cells from making any of this protein.[ghr.nlm.nih.gov]
  • Many of the suggested prevention strategies or treatments for HFS are based on this theory. How can I prevent HFS? Unfortunately, there is nothing that is guaranteed to prevent HFS.[oncolink.org]

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