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Respiratory Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Ian Pavord, Nayia Petousi, Nick Talbot
The pathogenesis in primary pneumothorax is poorly understood. There is a presumed air leak from apical subpleural blebs or bulla. It is more common in patients with Marfan's syndrome. Familial causes are rare, but an autosomal dominant mutation in the folliculin gene (as in Birt–Hogg–Dube syndrome, which also causes renal and skin tumours) is associated with pneumothorax.
The kidneys
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Renal cell carcinomas account for more than 95% of renal malignancies in adults, with a median age at presentation between 55 and 60 years. The tumours are usually sporadic but rarely familial cases may be encountered, particularly as part of the von Hippel–Lindau syndrome. This association has revealed that mutation and subsequent loss of the second (normal) copy of the VHL gene is a key event in the development of renal carcinomas of either the sporadic or familial type. These observations also confirm the importance of the VHL gene as a tumour-suppressor gene. The risk factors for the development of renal cell carcinoma are rather poorly understood; the tumour is more frequently encountered in males than females and there is a moderate association with a smoking history, diet, and hypertension. There is an association with abdominal obesity and the rising prevalence of obesity in the population is predicted to lead to a 40% increase in renal carcinoma over the next decade. Recent work has identified germline mutations that predispose to renal carcinoma in the succinate dehydrogenase and fumarate hydratase genes, which encode mitochondrial enzymes of the tricarboxylate cycle, and also germline mutations in the genes associated with tuberous sclerosis and the Birt Hogg Dube syndrome.
Renal cell cancer
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2014
Although rare, a number of hereditary syndromes are associated with the development of kidney cancer, which tends to present at a younger age with multifocal or bilateral disease. Significant progress has been made in the identification of underlying genetic abnormalities with important implications for the treatment of both hereditary and sporadic cancers. At least five, autosomal dominant hereditary renal cancer syndromes have been identified: Von Hippel-Lindau (VHL) Disease, hereditary papillary renal carcinoma (HPRC), Hereditary leiomyomatosis and renal cell cancer (HLRCC), Birt-Hogg-Dube syndrome (BHD), Tuberous sclerosis complex (TSC) and succinate dehydrogenase (SDH)- associated familial cancer. Their key features are detailed in Table 18.2.
Vulvar acrochordons arranged in a linear pattern
Published in Journal of Obstetrics and Gynaecology, 2018
Sanjay Singh, Alok Kumar Sahoo, Neetu Bhari, Savita Yadav
Skin tags, also designated as acrochordons or fibroepithelial polyps (FEPs), are small, soft, flesh coloured to dark brown, pedunculated outgrowth of epidermal and dermal tissue that commonly occur on neck, axillae, eyelids and in rare cases are seen around the genital region (Garg and Baveja 2015). It can affect any age including infants and is frequently seen in isolation, but in some cases, it can be associated with colonic polyps (Gardner syndrome), acromegaly, Birt-Hogg-Dube syndrome, Bannayan-Riley-Ruvalcaba syndrome and Nonne-Milroy-Meiges syndrome (Gould et al. 1988; Orosz et al. 2005; Erkek et al. 2005; Garg and Baveja 2015). In acquired cases, proposed aetiological factors include obesity, metabolic problems, hyperinsulinemia and human papilloma virus infection (Canalizo-Almeida et al. 2007). Hormone imbalances may facilitate the development of skin tags (e.g. high levels of oestrogen and progesterone during pregnancy). Estrogen and androgen receptor has been found to be upregulated in skin tags compared to normal skin (Bakry et al. 2014). None of these risk factors were present in our patient. Though, they were classified as a benign skin tumour, there were rarely reported cases of basal cell and squamous cell carcinoma associated with these growths (Chiritescu and Maloney 2001; Schwartz et al. 2004; Agir et al. 2005).