Basal cell nevus syndrome

Differential diagnosis

Non-syndromic basal cell carcinoma; Bazex syndrome; linear unilateral basal cell nevus with comedones; Rasmussen syndrome; Rombo syndrome

Therapy

Medical therapy: fluorouracil cream; isotretinoin; radiation therapy Surgical therapy: primary tumor in anatomically insensitive sites - destruction by electrodesiccation and curettage; elliptical excision; cryotherapy; fluorouracil cream; recurrent tumor or those in anatomically sensitive sites: Mohs micrographic surgery*

References

Gorlin RJ (i987) Nevoid basal-cell carcinoma syndrome. Medicine 66(2):98-ii3

Synonym(s)

Nevoid basal cell carcinoma syndrome; Gorlin syndrome; Gorlin-Goltz syndrome; bifid-rib basal-cell nevus syndrome

Definition

Inherited group of defects involving the skin, nervous system, eyes, endocrine glands, and bones, producing an unusual facial appearance and a predisposition for skin cancers

Pathogenesis

Chromosomal mutation of the PTC gene, a tumor suppressor gene; inactivation of this gene associated with development of basal cell carcinoma, other tumors, and developmental errors

Clinical manifestation

Pitting of the palms or soles; multiple basal cell carcinomas, often early in life; jaw cysts; cleft palate; coarse facies with milia, frontal bossing, widened nasal bridge, and mandibular prognathia; strabismus; dys-trophic canthorum; ocular hypertelorism; calcification of the falx cerebri; spine and rib abnormalities; high arched eyebrows and palate; kidney anomalies; hypogonad-ism in males

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