Basal cell nevus syndrome in Adult
The hallmark of the condition is the occurrence of multiple basal cell carcinomas (BCCs) beginning around puberty, or even in childhood. Areas of the face, torso, and extremities are involved, whether exposed to the sun or not. Other manifestations of BCNS include palmoplantar pits, skeletal abnormalities, calcification of the falx cerebri, distinctive facial features, and a rare predisposition to medulloblastoma. Other anomalies include undescended testes, hydrocephalus, strabismus, congenital cataracts, nystagmus, blindness from coloboma, and glaucoma. Agenesis of the corpus callosum and intellectual disability are rare.
For more information, see OMIM.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
69408002 – Gorlin syndrome
- Bazex-Dupré-Christol syndrome has BCCs, follicular atrophoderma, hypotrichosis, and decreased sweating and has autosomal or X-linked dominant inheritance. BCCs tend to be more facial and have histopathology features similar to trichoepitheliomas.
- Arsenic exposure can cause multiple BCCs and palmoplantar keratoses.
- Neurofibromatosis has greater than 6 café au lait macules and axillary freckling.
- Pseudohypoparathyroidism has short fourth metacarpal and ectopic calcification.
- Cowden syndrome (multiple hamartoma syndrome)
- Tuberous sclerosis
- Beckwith-Wiedemann syndrome