Hereditary Genodermatoses with Cancer Predisposition

This chapter will discuss common and less common important nodules and tumors in pediatric patients including neoplasms that are benign, malignant, and associated with various syndromes.

Facial involvement represents a characteristic feature of a wide range of genodermatoses. Specific facial findings often help point to the correct diagnosis, which improves counseling and management. In particular, this can facilitate the identification and treatment of associated extracutaneous disease. The highly visible nature of facial lesions in genodermatoses and facial birthmarks can result in stigmatization and frequently leads to particular concern in patients and their family members. It is therefore critical for dermatologists to be aware of the broad spectrum of facial manifestations in genetic skin disease, especially when these findings have important implications with regard to monitoring and treatment. In this contribution, facial involvement in genodermatoses is divided into five morphologic categories based on the most prominent feature: Papules, scaling, photosensitivity/findings associated with aging (eg, telangiectasias, atrophy, lentigines), blisters/erosions, and birthmarks. Hopefully, this will provide a practical and clinically useful approach to a large and diverse assortment of genetic skin conditions.

To review the diagnostic features and characterestics of an uncommon tumour, basal cell carcinoma (BCC) of the vulva.

The clinical and pathological details of six vulvar BCCs were reviewed. Four of the BCCs arose in isolation, one was combined with vulvar Paget’s disease and another was intimately associated with a poorly differentiated squamous cell carcinoma.

The average age of the six patients was 76 years (75 years for ‘isolated’ BCC; 78 years for BCC ‘mixed’ with other lesions). The duration of symptoms averaged 13 months in ‘isolated’ BCC but 24 months in ‘mixed’ BCC. Vulvar pruritus was the most common presenting complaint in the four cases of ‘isolated’ BCC. The initial biopsies included shave (x2) or punch biopsies (x4). Definitive surgery included excisional biopsy (x2) or a wide local excision (x3). In the five assessable tumours, the maximum tumour diameter averaged 19.8 mm (range 11-36 mm). In the sixth patient the BCC was contiguous with a 70 mm, unresectable, poorly differentiated squamous cell carcinoma which was treated by radiotherapy alone.

Although the histological diagnosis of vulvar BCC was straightforward in some of our cases, others presented difficulties due to non-representative initial biopsies, insufficient clinical information or contiguity with lesions of greater clinical significance such as Paget’s disease or squamous cell carcinoma.

Genodermatoses are heritable skin diseases that can cause significant morbidity and mortality. Most of them show characteristic cutaneous findings. Genodermatoses can be associated with extracutaneous system abnormalities. Diagnosing hereditary skin disorders is still a challenging task due to their rarity and diversity, due to diseases evolving over many years, and the initial manifestations not always being diagnostic; therefore, ongoing evaluation and surveillance is often required to make the accurate diagnosis. The algorithm for the diagnosis depends on a combination of thorough clinical and family history clinical examination, laboratory findings, consultation of multiple medical specialists, and molecular analysis. Diagnostic testing targeted at differentiation of similar genodermatoses may be required. Recognition is crucial for the initiation of the treatment for skin manifestations and detection of other extracutaneous abnormalities, including malignancy. Diagnostic accuracy and molecular diagnosis may help in providing a template for ongoing management, testing, and education and prognostication for families of children with genodermatoses.