Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Congenital Insensitivity to Pain Disorders

System/ConcernEvaluationComment
Skin 1 Physical exam of the skinAssess for dry skin & palmoplantar hyperkeratosis (often assoc w/cracking); determine if person is using a skin moisturizer daily.
Regulation of body temperature Inquire about history of hyperthermia or hypothermia.
Insensitivity to pain Multiple unintentional injuries Physical exam of the whole bodyAssess for bruises, cuts, burns, biting & Staphylococcus aureus infections.
Orthopedic injuries Exam of the bones & joints by an orthopedist
  • Assess for fractures; avascular necrosis; septic arthritis / osteomyelitis; self-mutilation; joint subluxation; Charcot neuroarthropathy; leg length discrepancy; scoliosis.
  • Consider baseline radiography of lower spine, hips, knees, & ankles, if ambulatory.
Dental risks for injury Exam for oral lesionsAssess for traumatic lingual injuries, burns, self-biting, & auto-extraction of teeth, as well as overall dental health.
Neuropathic keratitis Ophthalmologic examAssess for superficial punctate keratopathy, as well as corneal ulceration / perforation / infection.
Developmental delay 2 Neurologic exam & standardized tests for developmental milestonesAssess for development delay, as well as intellectual disability, incl defects in conceptual thinking & abstract reasoning.
Behavior problems 3 Formal eval of cognitive & adaptive functionsAssess for social behaviors & emotional disturbances; ADHD.
Anosmia 4 Inquire about sense of smell.Affected persons may be unaware of body odor & rancid food.
Genetic counseling By genetics professionals 5To inform affected persons & families re nature, MOI, & implications of CIPA in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; MOI = mode of inheritance

1.

Anhidrosis is more common in individuals with pathogenic variants in NTRK1, ZFHX2, and biallelic null variants in NGF; hyperhidrosis may be present in those with the c.2432T>C (p.Leu811Pro) pathogenic variant in SCN11A; pruritis is typically seen in those with pathogenic variants in SCN11A.

2.

Most often associated with pathogenic variants in CLTCL1, NGF, NTRK1, and SCN11A.

3.

Most often associated with pathogenic variants in NTRK1.

4.

Most often associated with pathogenic variants in SCN9A.

5.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse.

From: Congenital Insensitivity to Pain Overview

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