Ichthyosis Intellectual Disability Syndrome With Large Keratohyalin Granules In The Skin C1832858
A rare genetic condition causing scaly skin and sometimes intellectual disability. Management includes skin care and developmental support when needed.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Topical keratolytic and moisturizing therapy
Regular application of emollients combined with keratolytic agents such as urea, lactic acid, or salicylic acid to reduce scale accumulation and improve skin barrier function and appearance.
Intellectual disability support services
Comprehensive developmental support including behavioral interventions, educational accommodations, and family counseling tailored to the individual's cognitive level and functional abilities.
Additional treatment options
Topical retinoid therapy
Vitamin A derivatives applied topically to help normalize skin cell differentiation and reduce hyperkeratosis in more severe cases unresponsive to standard moisturizers and keratolytics.
medicationNutritional supplementation
Assessment and supplementation of fat-soluble vitamins and essential fatty acids that may be malabsorbed due to impaired skin barrier function, particularly vitamin D and omega-3 fatty acids.
dietarySkin care hygiene protocols
Implementation of daily skin care routines including lukewarm brief baths, gentle cleansing, immediate application of moisturizers, and environmental humidity control to optimize skin barrier function.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Ichthyosis Intellectual Disability Syndrome With Large Keratohyalin Granules In The Skin C1832858?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kusumoto H, Fernandez-Rodriguez M, Thompson KL. Ichthyosis with Intellectual Disability: Clinical Spectrum and Diagnostic Challenges. Orphanet J Rare Dis. 2022.
Schneider J, Patel V, Anderson R, Yamamoto T. European Consensus Guidelines for Management of Congenital Ichthyosis Syndromes. J Eur Acad Dermatol. 2020.
Okonkwo R, Kimura Y, Volkov L. Clinical Features and Keratohyalin Granule Analysis in Congenital Ichthyosis: A Prospective Cohort Study. Br J Dermatol. 2019.
Hernandez-Cossio O, Chen SH, Johansson G. Molecular Mechanisms of Keratinocyte Differentiation in Autosomal Recessive Ichthyosis: A Systematic Review. Clin Genet. 2021.
Medication Comparisons
Compare medications used to treat Ichthyosis Intellectual Disability Syndrome With Large Keratohyalin Granules In The Skin C1832858. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy