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Response of select subtypes of ichthyosis to treatment with topical keratolytics, topical retinoids, and systemic retinoids

Response of select subtypes of ichthyosis to treatment with topical keratolytics, topical retinoids, and systemic retinoids
Classification Disease Response to keratolytic agents* Response to topical retinoids Response to systemic retinoids Comments
Selected nonsyndromic ichthyoses Ichthyosis vulgaris + + Not recommended
  • May tolerate keratolytic agents poorly.
Recessive X-linked ichthyosis (steroid sulfatase deficiency) ++ ++ ++
  • Retention of scale; responds well to peeling agents.
  • Response to topical retinoids is typically superior to that of keratolytic agents.
Autosomal recessive sulfatase deficiency
Keratinopathic ichthyosis Epidermolytic ichthyosis (formerly called ichthyosis bullosa of Brocq or epidermolytic hyperkeratosis) ++ ++ ++
  • Helpful for some patients, but skin irritation and tendency to blister are limiting factors of keratolytic and retinoid use.
  • Palmoplantar thickening is particularly problematic with KRT1 (versus KRT10) epidermolytic ichthyosis variants.
  • Superficial epidermolytic ichthyosis tends to be less severe than epidermolytic ichthyosis.
Superficial epidermolytic ichthyosis (formerly called ichthyosis bullosa of Siemens) ++ ++ +
Ichthyosis with confetti Not recommended + ++
  • Anecdotally, topical tazarotene is more beneficial and better tolerated than tretinoin.
Autosomal recessive congenital ichthyosis Harlequin ichthyosis Not recommended + ++
  • Topical tazarotene is helpful for loosening skin of hands, ears, periorificial areas.
  • Systemic retinoids are a good option in the perinatal period and in infancy, although their use is not required in many cases; need after first months should be individualized, but many patients do well without retinoids.
Congenital ichthyosiform erythroderma ++ + Not recommended
  • Retinoids often poorly tolerated but topical retinoids may be considered for selected areas of skin thickening.
  • Patients may respond to Th17 pathway inhibition.
Lamellar ichthyosis ++ ++ ++
  • Excellent response to retinoids.
  • Use of topical versus systemic retinoid depends on severity.
Selected syndromic ichthyoses Netherton syndrome Not recommended Not recommended Not recommended
  • Poor tolerability of keratolytic agents and retinoids.
  • Broad treatment with IVIG has been successfully used in 1 patient[1-3]. More targeted therapy with various biologics have reduced erythema and scaling: secukinumab (IL-17 inhibitor)[4], ustekinumab (IL-12/IL-23 inhibitor)[5]; less often dupilumab (IL-4 receptor inhibitor)[6,7]; infliximab (TNF inhibitor)[8,9] and omalizumab (targets IgE) with pulse steroids[10].
  • NBUVB therapy is a potential option[11,12].
Sjögren-Larsson syndrome ++ ++ ++
  • Progressive neurologic issues often overshadow skin management.
Other disorders of differentiation Erythrokeratodermias Not recommended Not recommended ++
  • Ustekinumab can reverse skin and heart disease progression of EKC syndrome[13,14].
  • Isotretinoin led to significant, near-complete resolution of skin symptoms in recessive progressive symmetric erythrokeratoderma[15].
SAM syndrome + Not recommended Not recommended
  • May use keratolytic agents for palmoplantar keratoderma.
  • Trial of secukinumab therapy led to dramatic improvement of skin manifestations in 1 case but improved weight gain and reduced infection in a second[16].
Darier disease ++ Not recommended ++
  • Retinoids are treatment of choice, but topical corticosteroids may help reduce inflammation.
  • Infection control (Staphylococcus aureus, fungi, herpes simplex) is important.
Palmoplantar keratodermas, including pachyonychia congenita ++ ++ ++
  • Mechanical treatments, such as paring and filing hyperkeratotic areas, tend to be more effective than topical medical therapy.
  • Painful keratodermas, such as in pachyonychia congenita, require pain reduction techniques for many to allow continued mobility.

+: may be considered as part of treatment (especially if tolerated); ++: favorable response to treatment; EKC: erythrokeratodermia-cardiomyopathy; IgE: immunoglobulin E; IL: interleukin; IVIG: intravenous immunoglobulin; NBUVB: narrowband ultraviolet B; SAM: severe dermatitis, multiple allergies, and metabolic wasting; Th17: T helper type 17; TNF: tumor necrosis factor.

* Typical keratolytic agents are alpha-hydroxy acids (ie, lactic, glycolic, and mandelic acids) and beta-hydroxy acids (ie, salicylic acid). Propylene glycol and urea are humectants that add moisture to skin. May be compounded with keratolytic agents to facilitate shedding.

¶ Response to biologic therapy reported.

References:
  1. Renner ED, Hartl D, Rylaarsdam S, et al. Comèl-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol 2009; 124:536.
  2. Small AM, Cordoro KM. Netherton Syndrome Mimicking Pustular Psoriasis: Clinical Implications and Response to Intravenous Immunoglobulin. Pediatr Dermatol 2016; 33:e222.
  3. Eränkö E, Ilander M, Tuomiranta M, et al. Immune cell phenotype and functional defects in Netherton syndrome. Orphanet J Rare Dis 2018; 13:213.
  4. Luchsinger I, Knöpfel N, Theiler M, et al. Secukinumab Therapy for Netherton Syndrome. JAMA Dermatol 2020; 156:907.
  5. Volc S, Maier L, Gritsch A, et al. Successful treatment of Netherton syndrome with ustekinumab in a 15-year-old girl. Br J Dermatol 2020; 183:165.
  6. Steuer AB, Cohen DE. Treatment of Netherton Syndrome With Dupilumab. JAMA Dermatol 2020; 156:350.
  7. Aktas M, Salman A, Apti Sengun O, et al. Netherton syndrome: Temporary response to dupilumab. Pediatr Dermatol 2020; 37:1210.
  8. Fontao L, Laffitte E, Briot A, et al. Infliximab infusions for Netherton syndrome: sustained clinical improvement correlates with a reduction of thymic stromal lymphopoietin levels in the skin. J Invest Dermatol 2011; 131:1947.
  9. Roda Â, Mendonça-Sanches M, Travassos AR, et al. Infliximab therapy for Netherton syndrome: A case report. JAAD Case Rep 2017; 3:550.
  10. Yalcin AD. A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels. Immunopharmacol Immunotoxicol 2016; 38:162.
  11. Kaminska EC, Ortel B, Sharma V, Stein SL. Narrowband UVB phototherapy as a novel treatment for Netherton syndrome. Photodermatol Photoimmunol Photomed 2012; 28:162.
  12. Maatouk I, Moutran R, Tomb R. Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome. Clin Exp Dermatol 2012; 37:364.
  13. Paller AS, Czarnowicki T, Renert-Yuval Y, et al. The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab. J Am Acad Dermatol 2018; 78:498.
  14. Sun Q, Wine Lee L, Hall EK, et al. Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes. Pediatr Dermatol 2021; 38:31.
  15. Boyden LM, Vincent NG, Zhou J, et al. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet 2017; 100:978.
  16. Frommherz LH, Schempp CM, Has C. Secukinumab for the treatment of SAM syndrome associated with desmoglein-1 deficiency. Br J Dermatol 2021; 184:770.
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