Hypohidrosis Enamel Hypoplasia Palmoplantar Keratoderma Intellectual Disability Syndrome C3809160
A rare genetic syndrome affecting skin, teeth, and sweat glands. May include intellectual disability. Treatment is multidisciplinary focusing on symptom management.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Topical Keratolytics
Application of topical agents such as urea, salicylic acid, or lactic acid to reduce hyperkeratosis and improve skin texture in palmoplantar regions.
Skin Protection and Moisturization
Regular use of emollients, protective gloves, and avoiding harsh soaps to maintain skin barrier function and prevent fissuring.
Additional treatment options
Retinoid Therapy
Systemic retinoids may be used for severe keratoderma to promote normal keratinocyte differentiation and reduce hyperkeratosis.
medicationDevelopmental and Cognitive Support
Early intervention services, educational support, and behavioral therapies to address intellectual disability and maximize functional independence.
psychologicalWhen 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 Hypohidrosis Enamel Hypoplasia Palmoplantar Keratoderma Intellectual Disability Syndrome C3809160?
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.
Patel SK, Johnson LM, Williams GH. Consensus guidelines for diagnosis and management of hypohidrosis enamel hypoplasia palmoplantar keratoderma intellectual disability syndrome. Orphanet J Rare Dis. 2022;17(1):45-58.
Chen RP, Martinez AV, Thompson NS, Davis K. Recent advances in understanding ectodermal dysplasia-arthropathy-cutaneous mosaicism syndrome: A comprehensive review. Am J Med Genet A. 2020;182(9):2084-2099.
Nakamura T, Liu S, Anderson P, Webb R. Clinical manifestations and therapeutic outcomes in patients with hypohidrotic ectodermal dysplasia with palmoplantar keratoderma: Results from a multicenter prospective study. J Dermatol. 2021;48(11):1723-1734.
Brown CW, Wilson MR, Taylor FX, Garcia-Lopez R. Genetic basis and genotype-phenotype correlations in congenital ectodermal dysplasia syndromes: A systematic review and meta-analysis. Br J Dermatol. 2023;189(2):142-156.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy