Below: a few abstracts of research papers/reviews - get a feel of the topic from the general ones, then search further on the nih.nlm site in the links below [in blue] and on google scholar - the NIH site: select PMC from dropdown top left then search and save numerous .pdf full-text articles FOC.
If your school has a subs to Shibboleth or Athens [chk with library staff] then you can search even more databases.
DO NOT JUST COPY AND PASTE - write in your own words.
More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Histological examination is often required to differentiate lesions. They are usually benign and pathologically unrelated to the primary tumours, with the exception of the atypical moles of the dysplastic naevus syndrome, and may present simply as a cosmetic problem for the patient. However, a number of cancer syndromes exhibit an increased risk of developing malignant skin lesions. For instance, Gorlin syndrome (nevoid basal cell carcinoma syndrome) which typically results in the development of multiple basal cell carcinomas, within the first few decades of life. The majority of cancer syndromes with skin signs are inherited in an autosomal dominant pattern demonstrating complete penetrance before the age of 70. Once a cancer syndrome has been diagnosed, the cornerstone of management is frequent surveillance for the early detection and treatment of malignancy. Genetic testing and counselling should be offered to family members
Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease is still based primarily on clinical observations. The 7 diagnostic criteria of the National Institutes of Health, which were established in 1988, include 3 skin manifestations (cafe-au-lait spots, freckling on flexural areas, and cutaneous neurofibromas). The age at which these diagnostic lesions appear is variable: onset can be late in some patients while others never develop certain symptoms. Definitive diagnosis may therefore be delayed by years. Although the appearance of the characteristic cafe-au-lait spots and freckling in the early years of childhood are very suggestive of the disease, these signs are not pathognomonic and, in isolation, do not constitute sufficient evidence to establish a definitive diagnosis. Thus, other diagnoses should be considered in patients whose only symptoms are cafe-au-lait spots and freckling. By contrast, the presence of multiple cutaneous neurofibromas or at least 1 plexiform neurofibroma is a very specific indication of NF1. Identification of the different types of neurofibroma allows us to confirm the diagnosis and initiate appropriate management.
Proteins belonging to the RAS/mitogen activated protein kinase (MAPK) pathway play key roles in cell proliferation, differentiation, survival, and death. For more than 30 years now we have known that 30% of human cancers carry somatic mutations in genes encoding proteins from this pathway. Whereas somatic mutations have a high malignant potential, germline mutations are linked to developmental abnormalities that are often poorly clinically differentiated, although each is dependent upon the specific gene affected. Thus, all patients share varying degrees of mental ******ation or learning difficulties, heart disease, facial dysmorphism, skin anomalies, and, in some cases, predisposition to cancer. These syndromes, known as rasopathies, include Noonan syndrome, Costello syndrome, neurofibromatosis-1, LEOPARD syndrome, cardiofaciocutaneous syndrome, and Legius syndrome. Recognizing the skin manifestations of rasopathies can facilitate diagnosis of these syndromes.
Kidney cancer is a heterogenous disease encompassing several distinct clinicopathologic entities with different underlying molecular aberrations and clinical outcomes. Renal cell carcinoma (RCC) has been shown to evoke immunologic responses that can impact the natural history of disease and clinical presentation. It is important to recognize atypical presentations of disease, including cutaneous manifestations. The incidence of skin metastases from RCC is low, yet needs to be appreciated in the appropriate setting; clinical presentation for these lesions is reviewed briefly. There are several hereditary syndromes that present with well characterized cutaneous lesions and are associated with an increased risk for RCC, including Von Hippel-Lindau and Birt-Hogg-Dube syndromes. Given that these skin lesions may be the first presenting sign for RCC, timely recognition is of essence and both are discussed in some detail. Several therapeutic options based on immunomodulation are approved for the treatment of advanced RCC. Dermatologic toxicities observed with these agents are also briefly discussed.
Two cases are reported illustrating a parallel course of extensive skin manifestations and lung cancer. The cases presented features of paraneoplastic acrokeratosis (Bazex's syndrome) and erythema gyratum repens though they did not completely correspond to these well-defined conditions. In both cases the cutaneous eruption appeared more than a year prior to the diagnosis of lung cancer, and the skin disease resolved completely within half a year following surgical removal of the cancer. The need is stressed for repeated cancer screens when a cutaneous marker of internal malignancy is suspected.
1. Tidman AS. Be vigilant for skin manifestations of inherited cancer syndromes. Practitioner 2017; 261: 23-27.
2. Hernandez-Martin A, Duat-Rodriguez A. An Update on Neurofibromatosis Type 1: Not Just Cafe-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer. Actas Dermosifiliogr 2016; 107: 465-473.
3. Hernandez-Martin A, Torrelo A. [Rasopathies: developmental disorders that predispose to cancer and skin manifestations]. Actas Dermosifiliogr 2011; 102: 402-416.
4. Amin A, Burgess EF. Skin manifestations associated with kidney cancer. Semin Oncol 2016; 43: 408-412.
5. Lomholt H, Thestrup-Pedersen K. Paraneoplastic skin manifestations of lung cancer. Acta Derm Venereol 2000; 80: 200-202.