Midfacial toddler excoriation syndrome
Synopsis

MiTES is thought to be due to a homozygous guanine-cytosine-cytosine (GCC) repeat expansion in the gene PRDM12, leading to a polyalanine tract of 17-18 alanines instead of the normal 14-15. Mutations in PRDM12 have been associated with congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN), as the gene is essential for the development of nociceptors.
Symptoms usually start around the age of 3-6 months. Common behaviors that have been observed in children with this condition include scratching, rubbing, facial slapping, nose pulling, and disturbed sleep. Abnormal sensations are not reported elsewhere in the body. Despite the deep wounds inflicted from scratching, severe or deep-seated Staphylococcal infections have not been observed.
In most cases, the condition is self-resolving, with most children reporting relief within 5-10 years. However, postinflammatory pigmentary changes and significant scarring may occur.
Codes
G60.9 – Hereditary and idiopathic neuropathy, unspecified
SNOMEDCT:
860807003 – Hereditary autonomic neuropathy
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Last Updated:11/24/2024