Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Skin	Full skin exam to identify areas of skin atrophy & ulceration	Consider referral to dermatologist.
Musculoskeletal/ Pain	Assessment for significant limb asymmetry, abnormal joints, or weakness in affected limbs	Consider referral to orthopedist if gait is affected or leg length discrepancy is >1.5 cm.
Assessment for chronic pain & temperature dysregulation	Typically seen in affected limbs
Eyes	Dilated eye exam w/intraocular pressure measurement & peripheral vascular imaging (as soon as feasible)	To screen for glaucoma & peripheral retinal vascular abnormalities
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI (not typically inherited), & implications of CMTC to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support.	Consider referral to psychologist for those experiencing social & self-esteem issues due to their diagnosis.

System/Concern

Evaluation

Comment

Skin

Full skin exam to identify areas of skin atrophy & ulceration

Consider referral to dermatologist.

Musculoskeletal/
Pain

Assessment for significant limb asymmetry, abnormal joints, or weakness in affected limbs

Consider referral to orthopedist if gait is affected or leg length discrepancy is >1.5 cm.

Assessment for chronic pain & temperature dysregulation

Typically seen in affected limbs

Eyes

Dilated eye exam w/intraocular pressure measurement & peripheral vascular imaging (as soon as feasible)

To screen for glaucoma & peripheral retinal vascular abnormalities

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI (not typically inherited), & implications of CMTC to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support.

Consider referral to psychologist for those experiencing social & self-esteem issues due to their diagnosis.

From: Isolated and Classic Cutis Marmorata Telangiectatica Congenita

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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