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A child with severe feeding difficulties as an infant has coarse facial features, deep palmar creases, and papillomata around the nose and mouth. He has HCM and moderate intellectual disability.
AD (de novo); HRAS
- Facial: Coarse features, full lips, curly hair
- Skin: Loose redundant skin (infancy), deep palmar creases, papillomata (face, perianal)
- Cardiac: HCM (~60%), arrhythmias
- Growth: Severe failure to thrive, short stature
- Tumor risk: Increased risk of rhabdomyosarcoma, neuroblastoma, bladder carcinoma
- Molecular confirmation of a (usually de novo) HRAS pathogenic variant in a child with the characteristic coarse facies, deep palmar creases, papillomata, and failure to thrive
- Echo to evaluate for hypertrophic cardiomyopathy and arrhythmia
- Tumor surveillance is central: periodic abdominal and pelvic ultrasound plus urinalysis for the increased risk of rhabdomyosarcoma, neuroblastoma, and bladder carcinoma
- Cardiac monitoring for hypertrophic cardiomyopathy and arrhythmias (notably atrial tachycardia)
- Nutritional support for infantile feeding difficulties and failure to thrive
- Developmental and educational support
HRAS is on Chr 11 (Coste11o): the "11" is hidden in the name.
"Things COST LOW @ Costco":
- C: Cardiac, Chiari 1, Cancer (3 C's)
- O: Osteoporosis
- S: Skin papilloma / Seizures
- T: Tiny (short stature)
Tumor risk ("Costco BaRN"): Bladder cancer, Rhabdomyosarcoma, Neuroblastoma
This visual ties the "HaRASSed @ Costco" and "Things COST LOW @ Costco" mnemonics together with the HRAS gene and chromosome 11 location.
