Managing SLS: Standard of Care and Treatments

Managing Sjögren-Larsson Syndrome (SLS) requires a coordinated, multidisciplinary approach ^[1]. This means your child’s care team will likely include a variety of specialists—including neurologists, dermatologists, and physical therapists—all working together to manage symptoms ^[1][2]. While there is currently no cure for SLS, many effective treatments exist to improve comfort, mobility, and overall quality of life ^[3][4].

Dermatological Care: Managing Skin and Itching

The goal of skin care in SLS is to soften the skin, reduce scaling, and soothe the intense itching (pruritus) that is a hallmark of the condition ^[4].

• Topical Treatments: Daily use of intensive moisturizers and keratolytics (substances that help break down the outer layer of skin) is essential for managing ichthyosis ^[4][2].
• Systemic Medications: A low-dose retinoid called acitretin has been shown to significantly decrease skin thickness and scaling, leading to a better quality of life for both children and their caregivers ^[4].
• Targeting the Itch: For severe, “intractable” itching that doesn’t respond to standard lotions, a biologic medication called dupilumab has shown promising results in providing long-lasting relief and improving sleep ^[5].

Neurological & Motor Care: Improving Mobility

Addressing muscle stiffness (spasticity) is key to helping your child move more easily and preventing permanent muscle shortening (contractures) ^[6][7].

• Physical Therapy & Support: Regular physical therapy and the use of orthotics (such as Ankle-Foot Orthoses or AFOs) are vital for maintaining flexibility and improving independence ^[1][8].
• Spasticity Medications: Baclofen is a common medication used to relax muscles ^[9]. It can be taken orally, or in more severe cases, delivered directly to the spinal fluid via an intrathecal baclofen pump ^[10].
• Surgical Options: If spasticity is severe or has caused fixed deformities, procedures like Selective Dorsal Rhizotomy (SDR) or orthopedic surgeries may be considered to help loosen the muscles and improve walking ^[11][12].

The Role of Diet and Nutrition

In some metabolic disorders, specialized diets are a standard part of treatment. For SLS, a recognized therapeutic option is a diet restricted in long-chain fatty acids (LCFA) and supplemented with medium-chain triglycerides (MCT) ^[13][9].

While the body does produce some of these toxic fats internally (endogenous metabolism), reducing the external load of these fats through diet can be highly beneficial. While an LCFA-restricted/MCT-supplemented diet typically does not reverse neurological symptoms, it is frequently used to significantly reduce the buildup of fatty aldehydes. For many patients, this can dramatically improve severe skin scaling and intractable itching ^[9]. It is highly recommended to discuss this dietary approach with a specialized metabolic dietitian.

Research and Future Directions

Scientists are currently investigating new ways to treat the root cause of SLS. These experimental approaches include:

• Aldehyde Scavengers (e.g., ADX-102): Drugs designed to “trap” and neutralize the toxic fatty aldehydes before they can damage cells ^[9][14].
• Gene Therapy: Research into ways to provide cells with a functional copy of the ALDH3A2 gene ^[9].
• PPAR-α Agonists: Medications that may help stimulate whatever enzyme activity is left in the body ^[9].

While these are not yet standard treatments, they represent an active area of hope and research for the future ^[9].

To learn about who exactly will prescribe and manage these treatments, see Building Your Child’s Care Team for SLS.