Nevoid basal cell carcinoma syndrome

Nevoid basal cell carcinoma syndrome, also Gorlin syndrome and Gorlin-Goltz syndrome, is a constellation of findings due to an autosomal dominant genetic mutation. The gene is patched and abbreviated PTCH1.^[1]

Features:^[2]

Basal cell carcinoma.
Keratocystic odontogenic tumour.
Bony abnormalities: bifid ribs, scoliosis + others.
Falx cerebri calcification.
Characteristic faces.
Medulloblastoma.^[3]
Ovarian fibroma.^[3]

Images:

NBCCS (upmc.edu).

References

↑ Online 'Mendelian Inheritance in Man' (OMIM) 601309
↑ Busam, Klaus J. (2009). Dermatopathology: A Volume in the Foundations in Diagnostic Pathology Series (1st ed.). Saunders. pp. 435. ISBN 978-0443066542.
↑ ^3.0 ^3.1 Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1181. ISBN 978-1416031215.

[omim601309-1] Online 'Mendelian Inheritance in Man' (OMIM) 601309

[Ref_Derm435-2] Busam, Klaus J. (2009). Dermatopathology: A Volume in the Foundations in Diagnostic Pathology Series (1st ed.). Saunders. pp. 435. ISBN 978-0443066542.

[Ref_PBoD8_1181-3] 3.0 ^3.1 Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1181. ISBN 978-1416031215.

[1]

[2]

[3]

Nevoid basal cell carcinoma syndrome

See also

References

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