Table 2.
Table 2. Syndromes associated with cutaneous adnexal tumors [19,21,24,26–37]. (AD: Autosomal dominant; AR: Autosomal recessive; XR: X-linked recessive)
| Syndrome | Heredity and mutation | Observed cutaneous adnexal tumors | Systemic findings | Important notes | Affected regions |
|---|---|---|---|---|---|
| Brooke-Spiegler syndrome | ADCYLD gene mutation(80%–85%) | *Spiradenoma *Cylindroma *Spiradenocylindroma *Trichoepithelioma |
*Rarely salivary gland involvement. *In 5%–10% of patients, malignancy develops from existing cutaneous adnexal tumors. |
Multiple familial trichoepithelioma is a phenotypic variant of this disease that is only available with numerous trichoepitheliomas on the skin. | *The middle region of the face *Rarely scalp, neck, back |
| Cowden syndrome | ADPTEN gene mutation | Trichilemmoma | *Thyroid gland abnormalities *Often bilateral breast cancer and other breast diseases *Ovarian cyst, renal and endometrium cancer *Endometrial and gastrointestinal polyps |
*Keratoses on the distal extremities. *Benign fibroma and papillomas in the oral mucosa (cobble stone appearance) *Palmoplantar hyperkeratosis multiple skin tag |
Face, especially nose, nasolabial sulcus and cheeks |
| Muir-Torre syndrome | ADDNA mismatch repair gene mutation | *Sebaceous tumors *Keratoacanthoma |
*Visceral malignancy (colorectal, genitourinary, breast, hepatobiliary) | With the exception of sebaceous hyperplasia, Muir-Torre syndrome should be excluded in every patient diagnosed with multiple sebaceous tumors. | Face and neck |
| Rombo syndrome | ADSilent mutation | Trichoepitheliomata | Peripheral cyanosis | *Basal cell carcinoma *Atrophoderma vermiculatum *Milia *Loss of eyelashes and eyebrows *Hypotrichosis, and telangiectasia may occur. |
*Cheeks, preauricular area and forehead, *Atrophoderma is seen on thecheeks and elbows. |
| Gardner’s syndrome | ADAPC gene mutation | *Pilomatrixoma *Epidermoid cysts *Trichilemmal cysts *Hybrid cysts |
*Gastrointestinal polyps and adenocarcinoma, *Papillary Thyroid carcinoma, *Mesentery or bone desmoid tumor, *Osteosarcoma, *Chondrosarcoma, *Hepatoblastoma, *Mandibula and skull osteomas, fibromas, *Brain tumors *Congenital hypertrophy of the retinal pigment epithelium |
Gardner’s fibroma is often seen in the torso and its histopathology consists of thick, randomly arranged collagen bundles and scattered fibroblasts. | Gardner’s syndrome should be excluded in the presence of tumors, especially if exists in large numbers in the face, scalp, and extremities. |
| Birt-Hogg-Dubé syndrome | ADBHD/FLCN mutation | *Fibrofolliculoma *Trichodiscoma *Perifollicular fibroma |
*Renal carcinoma *Spontaneousrecurrentpneumothorax *Medullary thyroid carcinoma, multinodular goiter, thyroidadenoma |
Acrochordon, angiolipoma, lipoma, angiofibroma, angiomatous nodules | Face, neck and upper torso |
| Bazex-Dupré-Christol syndrome | XDMutation unknown | *Trichoepithelioma, *Follicular Atrophoderma |
*Congenital hypotrichosis, *Atopic tendency |
*Multiple Basal Cell Carcinoma *Multiple milia on the face *Hyperpigmentation on the forehead |
For atrophoderma; dorsal part of the hands and feet and over the knees-elbows |
| Schöpf–Schulz–Passarge syndrome | ARWNT10A gene mutation | Apocrine hidrocystoma | Hypodontia | *Palmoplantar keratoderma *Hypotrichosis, *Nail dystrophy |
Periocular region andeyelids |