Basaloid Follicular Hamartoma Syndrome
- Basaloid follicular hamartoma syndrome can be hereditary or nonhereditary.
- The gene that causes this syndrome is not known, but the inheritance pattern in families suggests it is an autosomal dominant disorder.
- Related skin lesion: Basaloid follicular hamartoma.
Brooke-Spiegler Syndrome (BSS)
- Brooke-Spiegler syndrome is an autosomal dominant syndrome caused by mutations in the CYLD gene.
- Related skin lesions: Cylindroma, Trichoepithelioma and Spiradenoma.
Cowden Syndrome
- Cowden syndrome is an autosomal dominant syndrome caused by mutations in the PTEN, KLLN, SDHB or SDHD genes.
- Related skin lesion: Trichilemmoma.
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
- HLRCC is an autosomal dominant syndrome caused by mutations in the FH gene.
- Related skin lesion: Piloleiomyoma
- You can learn more about HLRCC at the HLRCC Family Alliance website.
Rombo Syndrome
- Rombo syndrome is an autosomal dominant genetic disease, although the gene is not known.
- Related skin lesions: Milia and Telangiectasia.
Familial multiple discoid fibromas (FMDF)
- FMDF is an autosomal dominant genetic disease.
- FMDF is similar to BHD syndrome but patients only have skin lesions, with no kidney or lung symptoms.
- FMDF is caused by mutations in the FNIP1 gene, which interacts with the BHD gene, FLCN, and might explain the similar skin symptoms between the two syndromes.
- Related skin lesion: discoid fibroma
- You can learn more about FMDF on the BHD Research Blog.
Tuberous Sclerosis Complex (TSC)
- TSC is an autosomal dominant genetic disorder caused by mutations in the TSC1 or TSC2 genes.
- Related skin lesion: angiofibroma.
- You can learn more about TSC at the TS Association (UK) or TS Alliance (USA) websites.
Publication date: December 2014
Review date: December 2017