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Basal cell nevus syndrome in Child
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Basal cell nevus syndrome in Child

Contributors: David O'Connell MD, Vivian Wong MD, PhD, Belinda Tan MD, PhD, Susan Burgin MD
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Synopsis

Basal cell nevus syndrome (BCNS, also known as Gorlin syndrome and nevoid basal cell carcinoma syndrome) is a rare condition that is usually inherited in an autosomal dominant fashion, although a high percentage of cases are sporadic. The majority of inherited cases are caused by PTCH1 gene mutations, but PTCH2 and SUFU mutations have also been found to be responsible.

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.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
69408002 – Gorlin syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Differential diagnosis of palmoplantar pits:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:04/22/2020
Last Updated:05/05/2020
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Basal cell nevus syndrome in Child
Basal cell nevus syndrome
Clinical image of Basal cell nevus syndrome
Numerous tiny pits on the palms.
Copyright © 2021 VisualDx®. All rights reserved.