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Systemic Diseases and the Skin
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Jana Kazandjieva, Razvigor Darlenski, Nikolai Tsankov
Clinical findings: The development of intestinal polyposis and colorectal adenocarcinoma are key features of Gardner syndrome. Osteomas, cutaneous cysts, atypical skin pigmentation, and abnormal dental findings or radiographic lesions can precede by many years the development of intestinal polyposis.
Benign tumors
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
Firm, skin-colored papules or nodules containing keratin that are surrounded by a tough, fibrous capsule, presumably stimulated by leakage of the cyst contents. A keratin filled punctum may be present (Figure 12.37). If the cyst contents find their way into the dermis, considerable inflammation results. The horny content may eventually degenerate, forming a foul-smelling, semi-solid material. The fancied resemblance of this to sebum has mistakenly led to the term ‘sebaceous cysts’ for these lesions. Epidermoid cysts may occur anywhere but are most common over the head, neck, and upper trunk. Gardner syndrome, an autosomal dominant disorder representing familial adenomatous polyposis (FAP), is associated with multiple epidermoid cysts.
Sinonasal tumours
Published in Neeraj Sethi, R. James A. England, Neil de Zoysa, Head, Neck and Thyroid Surgery, 2020
Yujay Ramakrishnan, Shahzada Ahmed
Osteoma is the most common benign sinonasal tumour. It is a slow-growing bony tumour affecting mainly the frontal and ethmoid sinuses. The overall incidence of osteomas is 3% [17]. They typically present in patients in their 50s and 60s with a male-to-female ratio of 1.3:1 [17]. Most osteomas are isolated. Occasionally, they can be part of an autosomal dominant syndrome called Gardner syndrome. The triad of symptoms include osteomas (usually multiple), soft tissue tumours (such as epidermal inclusion cysts or subcutaneous fibrous tumours) and polyposis of the colon. Due to the high risk of malignant degeneration of these colonic polyps, a gastroenterology referral is advisable.
Mid-term results of MR-guided high-intensity focused ultrasound treatment for relapsing superficial desmoids
Published in International Journal of Hyperthermia, 2019
Arash Najafi, Bruno Fuchs, Christoph A. Binkert
Desmoid tumors (also known as aggressive fibromatosis) are rare locally infiltrative soft tissue tumors arising from musculoaponeurotic tissues with no known potential for metastasis. Tumor-related destruction of vital structures leads to morbidity and in case of organ destruction to mortality. Although they can occur at any age, most desmoids arise in individuals between the age of 15 and 60 years [1]. Based on location, desmoids are divided into extra-abdominal (trunk and extremities), also called superficial desmoids, and intra-abdominal tumors. Risk factors include prior trauma or surgery and pregnancy. In 5–15% of patients there is an association with familial adenomatous polyposis (FAP) called Gardner syndrome. These patients tend to develop abdominal desmoids (intra-abdominal or abdominal wall) [2,3]. With the increasing use of prophylactic colectomy, desmoids are now a more important cause of morbidity and mortality in this patient group [4].
Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view
Published in Ophthalmic Genetics, 2021
Kirk Packo, Morton F. Goldberg
Gardner syndrome is a genetic variant of Familial Adenomatous Polyposis (FAP). Both systemic diseases are potentially fatal because of almost universal development of multiple intestinal carcinomas. Timely detection of characteristic darkly pigmented (usually black) fundus pigmentations can be life-saving (1). We therefore report specifically identifiable torpedo-like fundus pigmentations in Gardner syndrome/FAP, not only derived from our own experience, but also documented in fundus photographs of numerous previously published reports (Table 1). Most of these publications have excluded or ignored the torpedo-like lesions, despite their obvious presence, typical appearance, and potential value for the detection of the systemic disease known as Gardner Syndrome.
Expression Levels of WNT Signaling Pathway Genes During Early Tooth Development
Published in Organogenesis, 2023
Yuhan Song, Fujie Song, Xuan Xiao, Zhifeng Song, Shangfeng Liu
Gene mutation may disrupt specific signaling networks and cause a wide variety of selective tooth agenesis patterns. Tooth agenesis can either occur as an isolated condition (non-syndromic tooth agenesis) or can occur as part of a genetic syndrome (syndromic tooth agenesis). Some genes are responsible for syndromic tooth agenesis, including Robinow syndrome and Gardner syndrome. The mutations of APC may cause Gardner syndrome, besides gene mutations of Ror2, Dvl1, Dvl3 and Wnt5a are associated with Robinow syndrome. Genes responsible for tooth agenesis were displayed in Table 2. By searching for HGMD, we found that there are as many as 2037 different mutation forms in APC (Table 2).