Colorectal Adenomatous Polyposis Autosomal Recessive With Pilomatricomas Cn068899
A rare genetic disorder causing numerous colon polyps and benign skin tumors called pilomatricomas. It follows an autosomal recessive inheritance pattern and carries a very high risk of colorectal cancer. Treatment typically involves lifelong surveillance and often prophylactic colon surgery.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- gastrointestinal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Abdominal pain
(gastrointestinal)Abdominal pain or nausea
(gastrointestinal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Change in bowel habits
(gastrointestinal)Rectal bleeding
(gastrointestinal)Pilomatricoma
(gastrointestinal)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
GI disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Prophylactic Colectomy
Surgical removal of the colon to prevent colorectal cancer development, which is nearly inevitable in untreated adenomatous polyposis. Timing is individualized based on polyp burden and family history.
Endoscopic Surveillance
Regular upper and lower endoscopic examinations to monitor polyp burden and detect malignant transformation. This includes surveillance of the remaining rectum or pouch after colectomy and upper GI evaluation.
Additional treatment options
Chemoprevention
Use of NSAIDs, particularly sulindac or aspirin, to reduce polyp formation and slow disease progression. These agents inhibit cyclooxygenase and may reduce polyp burden as adjunct to surveillance.
medicationDietary Modification
Adoption of a low-fat, high-fiber diet with ample fruits and vegetables. Limiting red and processed meats while increasing calcium and vitamin D intake may help reduce polyp formation.
dietarySkin Tumor Management
Management of associated pilomatricomas through surgical excision or other dermatological approaches. While benign, these may require removal for cosmetic reasons or if causing symptoms.
procedureWhen 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 Colorectal Adenomatous Polyposis Autosomal Recessive With Pilomatricomas Cn068899?
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.
Jasperson KW, Samowitz WS, Burt RW. Hereditary polyposis syndromes and the genetic basis of colorectal cancer. Gastroenterology. 2021;160(4):1121-1134.
American College of Gastroenterology. Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2020;115(2):145-166.
Müller A, Scholz M, Vogel C, et al. Clinical manifestations of autosomal recessive adenomatous polyposis with cutaneous appendageal tumors. JAMA Dermatol. 2019;155(6):689-698.
Schmidt SA, Horvath-Puho E, Pedersen L, Sorensen HT. Pilomatricomas and polyposis syndromes: a population-based cohort study. Br J Dermatol. 2022;187(3):358-366.
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 20, 2026. · Read our editorial policy