FaCD Online Syndrome Fact Sheet

Last updated: 07 May 2008

Name: Multiple Hereditary Infundibulocystic Basal Cell Carcinomas

Mode of Inheritance: AD?

Tumor features

facial papules
infundibulocystic basal cell cancer

Comment

Requena et al.[1] reported 2 families in which several members had developed infundibulocystic basal cell cancer. The authors stressed that this variant of basal cell cancer, which can also be found in basal cell nevus syndrome, should be distinguished from basaloid follicular hamartoma, folliculocentric basaloid proliferation and trichoepithelioma. The patients presented with multiple small pearly papules on the face, predominantly in nasolabial folds, and scalp, neck, thorax and extremities. None had the typical basal cell nevus syndrome features palmar pits and jaw cysts. However, whether this disorder, as the authors suggest, is indeed genetically distinct from basal cell nevus syndrome, needs to be further clarified. Crawford and Kobayashi discussed the differential diagnosis[2].

References

[1] Requena L, Fariña MC, Robledo M, Sangueza OP, Sanchez E, Villanueva A, Marquina A, Tamarit R. Multiple hereditary infundibulocystic basal cell carcinomas: a genodermatosis different from nevoid basal cell carcinoma syndrome. Archives of dermatology 1999; 135(10):1227-35.
[2] Crawford KM, Kobayashi T. Nevoid basal cell carcinoma syndrome or multiple hereditary infundibulocystic basal cell carcinoma syndrome?. Journal of the American Academy of Dermatology 2004; 51(6):989-95.