| 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.
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