Tumor syndromes, hereditary D48; Q87.5

The following list represents an overview of the most important hereditary tumor syndromes associated with skin lesions.

• Ataxia teleangiectatica
• Birt-Hogg-Dubé syndrome
• Bloom syndrome
• NAME syndrome (Carney complex)
• Dyskeratosis congenita
• BK-Mole syndrome (familial malignant melanoma)
• Fanconi anemia
• Gardner syndrome I
• Leiomyomatosis, hereditary
• Muir-Torre syndrome
• Multiple endocrine neoplasia type 1
• Multiple endocrine neoplasia type 2
• Cowden syndrome
• Goltz-Gorlin syndrome
• Neurofibromatosis
• Peutz-Jeghers syndrome
• Rothmund-Thomson syndrome
• Baller-Gerold syndrome
• Tuberous sclerosis
• Werner syndrome
• Xeroderma pigmentosum
• Cylindromas, familial.

The vast majority of hereditary tumor syndromes with cutaneous symptoms are inherited in an autosomal dominant manner. They are usually based on a germline mutation in tumor suppressor genes. In the rare autosomal or X-linked recessive tumor syndromes, etiological gene mutations are present in genes whose products have important functions in the control of DNA repair or in cell division. Alterations in these genes lead to increased genomic instability. For example, in Wermer syndrome, Bloom syndrome and Rothmund-Thomson syndrome, different genes for so-called DNA helicases are mutated. These are essential for the correct unwinding of DNA before cell division and in DNA repair processes. Their loss of function leads to premature aging of tissue and increased susceptibility to tumor diseases.