Table 1

 Tumour phenotypes, loci and genes in inherited syndromes associated with skin appendage neoplasms

DisorderOMIM numberInheritanceSkin tumour phenotypeMost common internal malignancyLocusGene symbol/gene name
*The association of BHDS and colon carcinoma remains controversial.
AD, autosomal dominant; adenoca, adenocarcinoma; Ca, carcinoma; XLD, X linked dominant.
Cowden syndrome158350ADTrichilemmomaBreast Ca10q23.3PTEN
Thyroid Ca Endometrial CaPhosphatase and tensin homolog
Birt–Hogg–Dube syndrome135150ADFibrofolliculoma TrichodiscomaRenal cell Ca Colon Ca?*17p11.2FLCN Folliculin
Naevoid basal cell carcinoma syndrome109400ADBasal cell carcinomaMedulloblastoma9q22.3PTCH Patched homolog (Drosophila)
Generalised basaloid follicular hamartoma syndrome605827ADBasaloid follicular hamartomaNo significant association identifiedNot identifiedNot identified
Bazex syndrome301845XLDBasal cell carcinomaNo significant association identifiedNot identifiedNot identified
Brooke–Spiegler syndrome605041ADCylindroma TrichoepitheliomaParotid adenoca16q12–q13CYLD Cylindromatosis
Spiradenoma
Familial cylindromatosis132700ADCylindromaParotid adenoca16q12–q13CYLD
Cylindromatosis
Multiple familial trichoepithelioma601606ADTrichoepitheliomaNo significant association identified9p21Not identified
16q12–q13CYLD
Cylindromatosis
Muir–Torre syndrome158320ADSebaceous adenomaColon Ca2p22–p21MSH2
Sebaceous epithelioma Sebaceous carcinoma KeratoacanthomaGenitourinary CaMutShomolog 2, colon cancer, non-polyposis type 1 (E coli)
MLH1
3p21.3MutLhomolog 1, colon cancer, non-polyposis type 2 (E coli)