Are neurodivergent conditions, including Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD), present in individuals with ichthyosis, a group of skin disorders characterized by dry, scaly skin?

From the Guidelines

There is no established direct link between ichthyosis and neurodivergent conditions in most cases, and management should focus on treating each condition independently according to standard guidelines. Ichthyosis primarily affects the skin, causing dry, thickened, scaly skin due to abnormal skin cell production or shedding. However, certain rare syndromic forms of ichthyosis, such as Sjögren-Larsson syndrome or CHILD syndrome, can have neurological components that might present with neurodevelopmental differences, as seen in other genetic disorders like 22q11.2 deletion syndrome 1. These specific genetic syndromes may include intellectual disability, seizures, or developmental delays alongside the skin manifestations. For most common forms of ichthyosis (like ichthyosis vulgaris or X-linked ichthyosis), there is no inherent connection to neurodivergent conditions. Any person with ichthyosis who shows signs of neurodevelopmental differences should receive appropriate evaluation, as these would likely represent separate conditions rather than being directly caused by the ichthyosis itself, unless they have one of the rare syndromic forms.

Some key points to consider in the management of ichthyosis and potential neurodivergent conditions include:

• Evaluating for rare syndromic forms of ichthyosis that may have neurological components
• Assessing for separate neurodevelopmental conditions in individuals with ichthyosis who show signs of neurodevelopmental differences
• Treating each condition independently according to standard guidelines, as there is no direct link between ichthyosis and neurodivergent conditions in most cases
• Considering the potential for multisystem involvement in genetic disorders, as seen in 22q11.2 deletion syndrome 1, and the importance of multidisciplinary care.

It's also important to note that while there may not be a direct link between ichthyosis and neurodivergent conditions, individuals with ichthyosis may still be at risk for other complications, such as those seen in 22q11.2 deletion syndrome, including cardiac and palatal abnormalities, immunodeficiency, and endocrine problems 1. Therefore, a comprehensive approach to care is necessary to address the potential complexities of these conditions.

From the Research

Neurodivergent Conditions in Ichthyosis

• There is evidence to suggest that certain types of ichthyosis may be associated with neurodivergent conditions, such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) 2.
• A study found that boys with X-linked ichthyosis (XLI) were at increased risk of developing ADHD, with 40% of participants fulfilling DSM-IV criteria for the condition 2.
• Additionally, the same study found that boys with XLI and large deletions encompassing the STS and NLGN4 genes were at increased risk of developing autism and related disorders 2.
• Other types of ichthyosis, such as Sjögren-Larsson syndrome, have been associated with mental retardation and progressive spastic paralysis 3.
• Refsum's disease, a type of ichthyosis caused by the accumulation of phytanic acid, has been associated with progressive neurologic dysfunction 3.

Types of Ichthyosis Associated with Neurodivergent Conditions

• X-linked ichthyosis (XLI) has been associated with ADHD and autism spectrum disorder 2.
• Sjögren-Larsson syndrome has been associated with mental retardation and progressive spastic paralysis 3.
• Refsum's disease has been associated with progressive neurologic dysfunction 3.
• Netherton's syndrome has been associated with atopy and hair shaft abnormalities, but there is limited evidence on its association with neurodivergent conditions 3, 4.

Diagnosis and Treatment of Ichthyosis with Neurodivergent Conditions

• Diagnosis of ichthyosis involves a combination of clinical evaluation, laboratory tests, and genetic testing 3, 4, 5.
• Treatment of ichthyosis typically involves topical therapies, such as moisturizers and exfoliants, and may also involve systemic therapies, such as retinoids 4, 6, 5.
• There is limited evidence on the specific treatment of neurodivergent conditions associated with ichthyosis, but a multidisciplinary approach involving dermatologists, neurologists, and other specialists may be necessary 2, 5.