Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Kindler Syndrome

System/ConcernEvaluationComment
Skin issues Comprehensive dermatologic eval for skin fragility, blistering, photosensitivity, & risk for squamous cell carcinoma
Eyes Ophthalmologic consult for conjunctival involvement
Mouth Dental consult for periodontal involvement
GI tract
  • Gastroenterology eval for strictures affecting GI tract
  • Incl eval of nutritional status, diet, & oral intake
Genitourinary
tract
  • Males: urology consult for urethra or foreskin stricture/stenosis
  • Females: gynecology eval for vaginal or labial stricture/stenosis
Genetic
counseling 		By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of KS to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

GI = gastrointestinal; KS = Kindler syndrome; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Kindler Syndrome

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