|
Disorders reported in patients with basal cell nevus 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 |
|
Lo Muzio Orphanet Journal of Rare Diseases 2008 3:32 doi:10.1186/1750-1172-3-32 |
|