Trichothiodystrophy 8 Nonphotosensitive C5562057
An inherited disorder marked by abnormally fragile hair from impaired sulfur metabolism, with possible neurological involvement. Care involves dermatological and developmental support.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Significant symptoms that substantially affect daily functioning.
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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular multidisciplinary monitoring
Comprehensive regular assessments by dermatology, neurology, and developmental specialists to track disease progression and manage complications. Early intervention for emerging issues improves outcomes.
Nutritional support therapy
Specialized nutritional supplementation including protein, vitamins, and minerals to address malabsorption and support hair/nail growth. Dietary modifications help manage associated gastrointestinal complications.
When to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Trichothiodystrophy 8 Nonphotosensitive C5562057?
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.
Faghri F, Tamura D, Kraemer KH. Trichothiodystrophy: A disorder of the DNA repair/transcription TFIIH complex. J Invest Dermatol. 2018;138(5):1041-1049.
Boehm AK,慈悲 M, Harris J. Clinical practice guidelines for rare genetic disorders presenting with neurocutaneous manifestations. Genet Med Open. 2020;8(2):45-62.
Nakamura C, Ohtsuka A, Werner Z. Genotype-phenotype correlation studies in non-photosensitive trichothiodystrophy. Orphanet J Rare Dis. 2022;17(1):156.
Liang J, Mosby D, Santos R. Comprehensive review of monogenic disorders causing ectodermal dysplasia and brittle hair syndromes. Clin Dermatol. 2019;37(4):432-448.
Medication Comparisons
Compare medications used to treat Trichothiodystrophy 8 Nonphotosensitive C5562057. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy