Inherited cutanoues tumours and associated systemic features and cancers
| Disorder | OMIM | Inheritance | Skin tumour | Associated features | Gene |
|---|---|---|---|---|---|
| Birt-Hogg-Dubé syndrome | 315150 | AD | Fibrofolliculoma | Renal cancer | FLCN |
| Trichodiscoma | Lung cysts | ||||
| Pneumothoraces | |||||
| Cowden syndrome | 158350 | AD | Trichilemmoma | Breast cancer | PTEN |
| Acral keratoses | Thyroid cancer | ||||
| Lipomas | Endometrial cancer | ||||
| Milia | |||||
| Familial leiomyomas | 605839 | AD | Piloleiomyoma | Renal cancer (Type 2 papillary RCC) | FH |
| Angioleiomyoma | |||||
| Muir-Torre syndrome | 158320 | AD | Sebaceous adenoma | Colorectal cancer | MSH2 |
| Sebaceous epithelioma | Genitourinary cancer | MLH1 | |||
| Sebaceous carcinoma | |||||
| Keratoacanthoma | |||||
| Tuberous sclerosis | TSC1 191100 | AD | Hypopigmented macules | Neurological abnormalities: epilepsy, autism, intellectual disability | TSC1 |
| TSC2 613254 | Facial angiofibroma | Renal abnormalities | TSC2 | ||
| Shagreen patch | Multi-organ hamartomatous overgrowth | ||||
| Periungual fibroma | |||||
| CYLD cutaneous syndrome (Fig 2c; Fig 3c,d) | 132700 | AD | Cylindroma | Salivary gland tumour – membranous basal cell adenoma | CYLD |
| 605041 | Spiradenoma | ||||
| 601606 | Trichoepithelioma | ||||
| Milia | |||||
| Gardner’s syndrome | 175100 | AD | Pilomatrixoma | Colon cancer | APC |
| Epidermoid cysts with features of pilomatrixoma | Desmoid tumours | ||||
| Osteomas | |||||
| Endocrine tumours | |||||
| Naevoid basal cell carcinoma syndrome | 109400 | AD | Basal cell carcinoma | Medulloblastoma | PTCH |
| SUFU | |||||
| Melanoma pancreatic cancer syndrome | 606719 | AD | Melanoma | Pancreatic cancer | CDKN2A |
AD = autosomal dominant