Junctional Epidermolysis Bullosa With Pyloric Atresia C5676875
An inherited condition causing extremely fragile skin and a stomach blockage at birth. Requires surgery to open the blockage, but remains a severe, often life-limiting disorder despite medical intervention.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
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
Image-guided procedure with follow-up care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Pyloric Atresia Surgical Correction
Emergency surgical intervention to bypass or resect the pyloric obstruction, which is life-threatening if causing complete gastric outlet blockage in affected infants.
Gastrointestinal Function Monitoring
Close monitoring of feeding tolerance, gastric residual volumes, and bowel function following surgical correction of pyloric atresia to detect complications early.
Additional treatment options
Specialized Wound and Skin Care
Meticulous blister and wound management using silicone-based dressings, barrier products, and infection prevention protocols specific to epidermolysis bullosa.
procedureEnteral Nutrition Support
Appropriate feeding strategies via gastrostomy or nasogastric tube when oral feeding is compromised by pyloric surgery recovery or ongoing gastrointestinal dysfunction.
dietaryFamily-Centered Psychological Support
Comprehensive psychosocial support for parents and siblings coping with the diagnosis of a severe genetic condition requiring intensive lifelong care.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Junctional Epidermolysis Bullosa With Pyloric Atresia C5676875?
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.
Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014.
Mellerio JE, Weiner M, Denyer JE, et al. Palliative care for epidermolysis bullosa: difficult decisions and diverse challenges. Br J Dermatol. 2017.
Pigors M, Kiritsi D, Krümpelmann S, et al. Molecular mechanisms of pyloric atresia-junctional epidermolysis bullosa syndrome. J Invest Dermatol. 2018.
Has C, Liu L, Bolling MC, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020.
Medication Comparisons
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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 25, 2026. · Read our editorial policy