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Table 2 Disorders reported in patients with basal cell nevus syndrome.

From: Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Clinical manifestations

Skin

Central nervous system

Cutaneous dyskeratosis:

Ectopic calcification:

    erythematous-squamous spots degenerating in NBCC

    falx cerebri

 

    tentorium cerebelli

    nodular or patch lesions

    spotted meningeal calcification

    palmo-plantar pits

    complete or partial bony bridging of the sella turcica

Multiple basal cell carcinomas

 

Benign dermal cysts

Meningioma

    Multiple nevi

Medulloblastoma

 

Multiform glioblastoma

 

Moderate mental retardation

 

Grand mal

 

Congenital hydrocephalus

 

Huntington's chorea

Stomatologic system

Ocular system

Odontogenic keratocysts

Cataract, coloboma, microphthalmia

Dental ectopy, heterotopy

Chalazions

Impacted teeth

Internal strabismus

Dental agenesis

Rotatory nistagmus

Malocclusion

Exophthalmus

Maxillary fibrosarcoma

Hypertelorism

Ameloblastoma

Congenital blindness

Odontogenic myxoma

 

Spindle cell carcinoma

 

Cleft palate and lip

 

Mandibular prognathism

 

High-arched palate

 

Squamous cell carcinoma

 

Skeletal open bite

 

Idiopathic pseudocyst

 

Hyperplasia of the mandibular coronoid processes

 

Musculo-skeletal system

Cardio-vascular system

Congenital skeletal anomalies:

Cardiac fibroma (interventricular septum)

    bifid, fused, splayed, or missing ribs

Absent internal carotid artery

    bifid wedges fused vertebra

 

    scoliosis

 

    frontal, temporal and parietal bossing

 

    polydactyly

 

    sindactyly

 

    short fourth metarcapal

 

    sprengel shoulder

 

Polyostotic bone cysts

 

Genito-urinary system

Auditory system

Males:

Middle ear anomalies

    hypogonadism

    otosclerosis

    cryptorchidism

    conductive hearing loss

Females:

Posteriorly angulated ears

    ovarian calcifications

 

    ovarian cysts

 

    ovarian fibroma

 

hypogonadism

 

Respiratory system

Biochemical findings

Bronchogenic cysts

High levels of CAMP

Hyaline membrane disease

High levels of AP

Gastro-enteric system

 

Linfomesenteryc cysts

 

Gastric polyps