SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (5)

Peeling skin syndrome in Infant/Neonate
Other Resources UpToDate PubMed

Peeling skin syndrome in Infant/Neonate

Contributors: Lauren Mihailides MD, Susan Burgin MD
Other Resources UpToDate PubMed


Peeling skin syndrome (PSS; also known as deciduous skin syndrome, familial continual skin peeling, and continual skin peeling syndrome) refers to a group of rare, autosomal recessively inherited disorders characterized by chronic, superficial skin peeling. PSS has been associated with a heterogeneous group of mutations in various genes involved in corneocyte structure and adhesion. A high rate of consanguinity is seen in affected families. PSS is caused by separation of the stratum corneum from the underlying stratum granulosum.

PSS often presents in infancy but can present in late childhood and occasionally adulthood. Skin loss in PSS is generally asymptomatic but is occasionally pruritic. Peeling is worsened by trauma, friction, humidity, heat, and water exposure.

PSS is divided into generalized and acral subtypes. Generalized PSS causes diffuse skin shedding that typically spares mucosal surfaces, palms, and soles. It may be noninflammatory (type A) or inflammatory (type B).
  • Noninflammatory PSS is asymptomatic and has been associated with hyperpigmentation. Mutations in the CHST8 gene, in the SERPINB8 gene, and most recently, the FLG2 gene that encodes filaggrin, have been found.
  • Inflammatory PSS can present with erythema, pruritus, and occasional flaccid vesicles. It can worsen during summer months. An association with atopy and high IgE levels may be seen. Loss of function mutations in the CDSN gene is responsible.
  • Acral PSS (APSS) is a localized disease involving the dorsal and volar surfaces of the hands and feet. Mutations in the transglutaminase 5 (TGM5) gene or the cystatin A (CSTA) gene are responsible.


R23.4 – Changes in skin texture

238643009 – Skin peeling disorder

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

The differential for PSS includes other causes of superficial desquamation of the skin. The presence of systemic symptoms should point away from the diagnosis of PSS. Lab findings are within normal limits in patients with isolated PSS.

Other causes of peeling skin include:
  • Netherton syndrome – differentiate from the inflammatory generalized subtype. Ichthyosis linearis circumflexa, trichorrhexis invaginata, and immunological dysfunction accompany Netherton syndrome.
  • Epidermolysis bullosa simplex (EBS) – differentiate from the acral subtype. EBS has larger, more persistent bullae than APSS.
  • Staphylococcal scalded skin syndrome
  • Bullous congenital ichthyosiform erythroderma
  • Sunburn
  • Pemphigus vulgaris – can involve mucous membranes, unlike PSS
  • SAM syndrome
  • Atopic dermatitis
When disease is limited to hands and feet:
  • Dyshidrotic dermatitis
  • Epidermolysis bullosa simplex, localized – autosomal dominant
  • Erythrokeratolysis hiemalis (Keratolytic winter erythema)
  • Exfoliative ichthyosis
  • Keratolysis exfoliativa

Best Tests

Subscription Required

Management Pearls

Subscription Required


Subscription Required


Subscription Required

Last Reviewed:08/14/2018
Last Updated:01/20/2022
Copyright © 2024 VisualDx®. All rights reserved.
Peeling skin syndrome in Infant/Neonate
A medical illustration showing key findings of Peeling skin syndrome (Acral) : Acral distribution, Desquamation, Erythema, Hands and/or feet, Palms and soles, Symmetric extremities distribution, Pruritus, Ichthyotic scaly plaques
Copyright © 2024 VisualDx®. All rights reserved.