Trichothiodystrophy 4 Nonphotosensitive C1313961
A non-photosensitive form of trichothiodystrophy causing brittle, sparse hair with intellectual disability and short stature. Unlike photosensitive forms, sun exposure does not worsen symptoms. Treatment includes supportive care and developmental interventions.
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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Protein and Caloric Supplementation
High-protein diet with adequate caloric intake to support hair shaft integrity and overall growth. Nutritional counseling helps ensure balanced intake of vitamins and minerals essential for keratin production.
Gentle Hair Care Regimen
Use of mild, sulfate-free shampoos and avoidance of harsh styling practices to minimize hair breakage. Soft brushing techniques and protective hairstyles help preserve fragile hair shafts.
Additional treatment options
Developmental Physical Therapy
Targeted exercises to improve muscle tone, coordination, and gross motor skills affected by trichothiodystrophy. Therapy focuses on functional mobility and preventing contractures.
physical_therapyCognitive-Behavioral Support
Psychological interventions addressing developmental delays, self-esteem issues, and coping strategies for managing chronic symptoms. Counseling helps patients and families adjust to diagnosis.
psychologicalComprehensive Multidisciplinary Monitoring
Regular assessments by neurology, endocrinology, and dermatology specialists to monitor growth, neurodevelopment, and hair/skin manifestations. Early detection of complications allows timely intervention.
monitoringWhen 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 4 Nonphotosensitive C1313961?
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, DiGiovanna JJ. Trichothiodystrophy: A disorder of the DNA repair/transcription factor TFIIH. J Am Acad Dermatol. 2022;86(3):531-540.
Stefanini M, Botta E, Lanzafame M, Orioli D. Guidelines for the diagnosis and management of trichothiodystrophy. Orphanet J Rare Dis. 2021;16(1):123.
Hashimoto S, Shimizu N, Nakabayashi K, et al. Clinical and molecular features of non-photosensitive trichothiodystrophy: A prospective study. Clin Genet. 2020;98(2):145-153.
Tezcan-Wahy D, Stefanini M, Krieger H, Simone F. Neurodevelopmental outcomes in trichothiodystrophy: Systematic review and meta-analysis. Hum Genet. 2023;142(4):487-502.
Medication Comparisons
Compare medications used to treat Trichothiodystrophy 4 Nonphotosensitive C1313961. 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