Table 5. [Treatment of Manifestations in Individuals...]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Mucocutaneous lesions	Asymptomatic lesions: observation alone is prudent.	Cutaneous lesions should be excised only if malignancy is suspected or symptoms (e.g., pain, deformity, ↑ scarring) are significant.
Symptomatic lesions: topical agents (e.g., 5-fluorouracil), curettage, cryosurgery, or laser ablation may provide only temporary relief [Hildenbrand et al 2001].	Surgical excision is sometimes complicated by keloid formation & recurrence (often rapid) of the lesions [Eng, unpublished data].
Developmental delay	As needed: Developmental support services Early intervention &/or special education services
Breast disease / neoplasia	Treatment per breast cancer specialist
Thyroid disease	Thyroid US to monitor for ↑ in size of nodules, or multinodular goiter If results of fine needle aspirate are suspicious for malignancy, perform total thyroidectomy.	Sub-total thyroidectomies will → regrowth of thyroid w/similar cancer risks.
Endometrial disease	Multiple fibroids are treated w/total abdominal hysterectomy.	Single fibroid removals → dramatic recurrences.
Gastrointestinal neoplasias	Endoscopy w/removal of polyps per gastroenterologist
Renal cell carcinoma	Standard treatment

Manifestation/Concern

Treatment

Considerations/Other

Mucocutaneous
lesions

Asymptomatic lesions: observation alone is prudent.

Cutaneous lesions should be excised only if malignancy is suspected or symptoms (e.g., pain, deformity, ↑ scarring) are significant.

Symptomatic lesions: topical agents (e.g., 5-fluorouracil), curettage, cryosurgery, or laser ablation may provide only temporary relief [Hildenbrand et al 2001].

Surgical excision is sometimes complicated by keloid formation & recurrence (often rapid) of the lesions [Eng, unpublished data].

Developmental
delay

As needed:

Developmental support services
Early intervention &/or special education services

Breast disease /
neoplasia

Treatment per breast cancer specialist

Thyroid disease

Thyroid US to monitor for ↑ in size of nodules, or multinodular goiter
If results of fine needle aspirate are suspicious for malignancy, perform total thyroidectomy.

Sub-total thyroidectomies will → regrowth of thyroid w/similar cancer risks.

Endometrial disease

Multiple fibroids are treated w/total abdominal hysterectomy.

Single fibroid removals → dramatic recurrences.

Gastrointestinal
neoplasias

Endoscopy w/removal of polyps per gastroenterologist

Renal cell carcinoma

Standard treatment

From: PTEN Hamartoma Tumor Syndrome

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

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