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