Fibromatosis cutis, perifollicular, with colonic polyps Q87.8

• Very rare syndrome described in 3 members of one family with numerous perifollicular fibromas on forehead, cheeks, neck and trunk and fibromata pendulantia on neck, armpits and groin, sometimes in combination with adenomatous colonic polyps.
• The disease is probably identical with the Birt-Hogg-Dubé syndrome. Probably variable manifestations of the same genetic defect are involved.

Clinical controls, especially with regard to the intestinal symptoms. Therapy of perifollicular fibromas would only be necessary for cosmetic reasons (surgical removal of fibromas on the skin using a scalpel, curettage, dermabrasion or, in the case of penetrating fibromas, by scissor strike).

1. Frantzen B et al (2001) Chert Knickenberg and Birt-Hogg-Dube syndrome. Report of a case with spontaneous pneumothorax and aplasia of the left internal carotid artery. dermatologist 52: 1016-1020
2. Chert OP, Knickenberg M (1975) Perifollicular fibromatosis cutis with polyps of the colon--a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res 253: 161-175
3. Schulz T, hard shoe W (1999) Birt-Hogg-Dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. J Cutan Pathol 26: 55-61