[Familial adenomatous polyposis, desmoid tumors and Gardner syndrome]. / Polypose adénomateuse familiale, tumeurs desmoïdes et syndrome de Gardner.

About 15 % of patients with familial adenomatous polyposis "PAF" develop one or more desmoid tumors in their lifetime. These are benign mesenchymal tumors with local aggressivity but with no potential for metastases. Most of the desmoids tumors result from a sporadic genetic anomaly in the ß catenin gene. When related to familial adenomatous polyposis or "PAF", this mutation is not present, and the patients must be sent in genetic counselling. The PAF is a dominant autosomic illness related to a germinal mutation in the APC gene. Sometimes, these tumors can be the first manifestation of the illness. The diagnosis in a context of PAF can be easily done by imaging, but a pathological confirmation is needed. These tumors raise a therapeutic problem because of their heterogeneity and the absence of predictive biomarkers along illness evolution. The identification of prognostic biological and clinical factors would make easier the selection of patients requiring first-line treatment, as spontaneous remissions have also been observed in patients with FAP whom which an active surveillance could also be a valid therapeutic option. The particularity of desmoids tumors associated to PAF lies in their predominantly intra-abdominal location and the risk of complication. In the last ten years, surgery has largely given way to conservative treatments such as chemotherapy and more recently to tyrosine kinase inhibitors that have shown their efficacy with a significant improvement in progression-free survival of patients.

[Gardner's syndrome, a rare disease]. / Gardner-syndroma, avagy amikor a raritások "kopogtatnak az ajtón".

Introduction: Gardner's syndrome is a clinical subgroup of Familial Adenomatosus Polyposis, arare, autosomal disease. It is characterized by gastrointestinal polyps and extra-intestinal manifestations including multiple osteomas, skin and tissue tumours. The authors describe a case of a male patient, and discuss the diagnosis, treatment and follow-up of patients with Gardner's syndrome. We conclude that the knowledge of rare syndromes is very important for the correct treatment.

Maxillofacial Radiographic study of Gardner's syndrome presenting with odontogenic myxoma: A rare case report.

Gardner syndrome is an autosomal dominant disease. It is characterized by a combination of familial adenomatous polyposis (FAP) of the intestine with extraintestinal changes as multiple osteomas and fibromas. Odontogenic Myxoma is a benign, aggressive intraosseous neoplasm. We report a rare case of a 14-year-old male patient with Gardner's syndrome and odontogenic myxoma, which involved the entire left half of the mandible, resulting in a gross facial deformity, within a span of one year.

Attenuated adenomatous polyposis of the large bowel: Present and future.

Attenuated adenomatous polyposis (AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis (FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations. AAP may be diagnosed as a single case in a family or, less frequently, it may be present in other family members, and it shows distinct pattern of inheritance. In less than 50% of cases, it may be caused by adenomatous polyposis coli (APC) or MUTYH mutations, referred to as APC-associated polyposis, inherited as an autosomal dominant trait, or MUTYH-associated polyposis, which shows an autosomal recessive mechanism of inheritance, respectively. Surveillance should rely on colonoscopy at regular intervals, with removal of adenomas and careful histological examination. When removal of polyps is not possible or advanced lesions are observed, the surgical approach is mandatory, being subtotal colectomy with ileo-rectal anastomosis the treatment of choice. Studies on this syndrome are lacking, and controversies are still present on many issues, thus, other clinical and genetic studies are requested.

Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.

Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. The oral and maxillofacial manifestations of these syndromes may become visible several years before the intestinal lesions, constituting a clinical marker that is predictive for the development of intestinal polyps and/or other visceral malignancies. A multidisciplinary approach is therefore necessary for both clinical diagnosis and management of the gene-carriers probands and their family members who have to be referred for genetic testing or have to be investigated for the presence of visceral cancers.

Múltiples osteomas en región cráneo maxilofacial. Reporte de dos casos / Osteomas multiple in the craniofacial región. Report of two cases

Los osteomas son lesiones benignas de crecimiento lento, progresivo, asintomáticas (salvo que por su tamaño afecten a estructuras adyacentes), localizadas frecuentemente en el esqueleto cráneo facial, de etiología poco clara, presentes a cualquier edad y sin predilección de género. Suelen ser solitarios o múltiples, a menudo asociados al Síndrome de Gardner. Para el diagnóstico se requiere de una evaluación clínica, imagenológica e histopatológica, su tratamiento dependerá de los problemas estéticos o funcionales que causen, el cual consiste en la remoción quirúrgica y la osteotomía modeladora. El propósito de este reporte, es dar a conocer dos casos de pacientes de diferente género y edad, que acudieron a la Unidad de Estomatología y Cirugía Buco-Maxilofacial del Hospital de Clínicas Universitario (La Paz-Bolivia), quienes presentaron osteomas múltiples en la región craneomáxilofacial, sin evidencia clínica (al momento del examen) de manifestaciones intestinales y cutáneas por lo que se estableció que no estuvieron asociados al Síndrome de Gardner. El tiempo de evolución, la poca frecuencia de reportes de lesiones múltiples en nuestro país (Bolivia), la alteración estética y funcional debido a las grandes dimensiones alcanzadas, ya que requirieron una intervención quirúrgica para su resolución, nos lleva a la presentación de estos casos...

The osteomas are a group of slow growth, progressive and asymptomatic benign lesions (except for its size affect adjacent structures), these lesions are located in the skull and facial bones, of unclear etiology, they can appear at any age without genre predilection. They can be found alone or can be multiple, frequently associated Gardner Syndrome. To make a correct diagnostic requires clinical, imaging and histopathological assessment. Treatment depends on the aesthetic or functional problems that may cause, consisting in surgical removal and styling ostheotomy. The purpose of this report is to present two patient cases of different genre and age, attending la Stomathology and Oral and Maxillofacial Surgery Unit of the Hospital Clinicas (La Paz-Bolivia) with multiple osteomas at craniomaxillofacial region, without clinical manifestations when intestinal and cutaneous evidence therefore states that it is not associated with Gardner syndrome; time evolution, infrequently reported multiple injuries in our country, esthetic and functional alteration due to the large size reached, requiring surgical intervention for resolution, leads to the presentation of these cases...

Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q.

BACKGROUND AND AIMS: Classic autosomal-dominant familial adenomatous polyposis (FAP) is clinically defined by the development of hundreds to thousands of colorectal adenomas beginning in childhood and adolescence. A variant of FAP characterized by polyposis in combination with osteomas or soft tissue tumours is called Gardner's syndrome. FAP is caused by germline inactivation of the APC (adenomatous polyposis coli) tumour-suppressor gene located on the long arm of chromosome 5 (5q21-5q22). Cytogenetically visible deletions of chromosome 5q encompassing APC have very rarely been reported. Here, we aimed to phenotypically and genetically characterize a patient with a heterozygous 5q deletion resulting in Gardner's syndrome. METHODS AND RESULTS: A 26-year-old female patient with mild mental handicap and dysmorphic features due to a cytogenetically visible deletion on chromosome 5q (microscopically estimated region 5q14-5q23) presented at our tertiary referral centre because of mild adenomatous polyposis (<500 polyps). Twenty months after prophylactic proctocolectomy with definitive ileostomy, three rapidly growing desmoids were observed. Tumour-associated complications necessitated a multidisciplinary approach including medical treatment, surgery and radiation therapy. The characterization of the deletion by comparative genomic hybridization identified a large 5q deletion expanding over a 20-Mb region (5q21.3-5q23.3) including the APC gene. CONCLUSION: Chromosome deletions must be suspected in patients presenting with FAP together with mental handicap and dysmorphic features. This case also impressively shows that FAP-associated desmoids need multimodal treatment taking into account the patient's individual symptoms, disease progression and tumour location.

Modified multivisceral transplantation with spleen-preserving pancreaticoduodenectomy for patients with familial adenomatous polyposis "Gardner's Syndrome".

BACKGROUND: Liver-sparing "modified" multivisceral transplantation (MMVTx) has recently been more used for patients with diffuse gastrointestinal disorders and preserved hepatic functions. Evisceration techniques with preservation of native spleen were also introduced to reduce risk of posttransplant lymphoproliferative disorders. This study focuses on the indications of MMVTx for patients with familial adenomatous polyposis (FAP) and the technical feasibility of performing spleen-preserving pancreaticoduodenectomy (SPPD). METHODS: Between 1993 and 2009, 10 FAP patients required MMVTx. Nine were adults and one was a child, with a female:male ratio of 1:1. RESULTS: Short gut with duodenal adenomatosis and extensive desmoid tumors with pancreaticoduodenal involvement dictated need for MMVTx. SPPD was technically feasible in four recipients, and conventional evisceration including splenectomy was performed in remaining six recipients. With an overall cumulative survival of 90% at 1 year and 77% at 10 years, all SPPD recipients were alive with no single example of posttransplant lymphoproliferative disorder, graft-versus-host disease, or chronic rejection. However, SPPD was associated with an increase (P>0.3) in total ischemia time, operative time, and packed red blood cells requirement but with shorter (P=0.6) length of hospital stay. With a mean follow-up of 50±45 months (range 18-128 months), none of the 10 recipients experienced intraabdominal desmoid tumor recurrence or developed de novo visceral allograft neoplasm. CONCLUSION: MMVTx is a valuable therapeutic option for FAP patients who are in need for visceral transplantation with pathologic involvement of the pancreaticoduodenal complex. SPPD is technically feasible, and efforts should always be made to preserve native spleen because of the reported herein therapeutic advantages.

Gardner syndrome: skin manifestations, differential diagnosis and management.

Gardner syndrome is a variant of familial adenomatous polyposis (FAP) and results in the manifestation of numerous external and internal symptoms including gastrointestinal polyps, osteomas, tumors, and epidermoid cysts. As such, it is highly recommended that physicians conduct full body examinations to catch the key clinical features of the disease when it is suspected. Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from other differential diagnoses such as Turcot syndrome, FAP, and other attenuated forms of familial polyposis. Fortunately, Gardner syndrome has characteristic polyps in the colon, osteomas, and also exhibits abnormalities in the retinal epithelium that discern it from others. Surgery is the most effective method of management for Gardner syndrome; restorative proctocolectomy with ileal pouch anal anastomosis with mucosectomy is the top choice for colonic malignancies, and skin manifestations can be treated through a variety of excisions and therapy depending on location, size, and number of malignancies. Currently, there are no specific screening recommendations for Gardner syndrome, but testing following general screening recommendations for extra-colonic malignancies, genetic counseling, and endoscopy are encouraged.

The role of Cone beam CT in the evaluation and management of a family with Gardner's syndrome.

Gardner's syndrome (GS) is a hereditary autosomal dominant disease of the colon that presents with extra-colonic manifestations such as osteomas, skin lesions and dental abnormalities. Osteomas are commonly found in the skull, jaws and the paranasal sinuses. We present a family of four sisters affected with GS with a wide range of anomalies. The role of Cone beam computed tomography (CBCT) in the early detection and evaluation of osteomas and dental anomalies with precise assessment of their relationship to adjacent anatomic structures is described here in detail. The careful interpretation of CBCT may be of a great value in surgical and orthodontic treatment planning in the presence of jaw lesions. Management of dental problems in GS may be challenging due to the presence of odontomas and increased bone density. A multidisciplinary approach in the management of GS can achieve the best treatment results.

Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature.

Gardner syndrome (GS) is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) and may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a 23-year-old female patient with GS who presented with gastric polyposis and was successively treated with restorative proctocolectomy in combination with ileal pouch anal anastomosis (RPC/ IPAA), ileostomy, ileostomy closure operation, snare polypectomy during 8 mo. After operation, the patient took oral traditional Chinese medicine pills made of Fructus mume and Bombyx batryticatu for about 6 mo. The innutrition and anaemia of this patient were gradually improved. Gastroscopy showed that the remnant gastric polypi gradually decreased and finally disappeared 19 mo after the first operation. The patient had 2-3 times of solid stool per day at the time we wrote this paper.

Esteatocistoma múltiplo / Steatocystoma multiplex

O esteatocistoma múltiplo é doença dermatológica rara, caracterizada por lesões múltiplas e de vários tamanhos no tronco. Também podem ser encontradas nas costas, extremidades e escroto. As lesões isoladamente variam de 1mm a 2cm e são macias e móveis. As lesões profundas são da cor da pele; as superfícies normalmente são amarelas. Podem ocorrer isoladas (esteatocistoma simples) ou ser múltiplas (esteatocistoma múltiplo). A doença afeta tanto homens quanto mulheres. Começa no início da vida adulta e persiste indefinidamente. As lesões são usualmente assintomáticas; algumas podem inflamar e supurar, deixando cicatrizes. É uma doença autossômica dominante e associada a um defeito do gene da queratina 17. O principal diagnóstico diferencial inclui cisto epidermóide e cisto veloso eruptivo. Não foi relatada degeneração maligna.

Difficult wounds: an update.

The purpose of this collective review is to describe revolutionary advances in the treatment of Gardner's syndrome (GS), pseudofolliculitis barbae, nasal septal perforation, factitious wounds, and hidradenitis suppurativa (HS). Gardner's syndrome or familial polyposis has various manifestations that appear to be controlled by a single genetic locus. Apart from the large bowel adenomas, which are always present, a common extracolonic symptom of Gardner's syndrome is the occurrence of epidermal cysts. These cysts can be seen before the intestinal polyps are evident. Because epidermal cysts in patients with Gardner's syndrome are always benign, we excise these cysts using incisions that are commonly used for rhytidectomy. Pseudofolliculitis barbae, a pseudofolliculitis caused by ingrown hairs, effects 85% of blacks who shave their beards. When this disease is allowed to progress to keloid formation, we use a surgical approach that includes excision of the keloidal scar, meticulous debridement of all residual ingrown hairs in the underlying wound, and coverage of the defect with a split-thickness skin graft. More recently, laser therapy has revolutionized the treatment of pseudofolliculitis barbae and has enabled a cure for the first time for those plagued with this disorder and for whom a beardless face is acceptable. Nasal septal perforation is a well recognized complication of septal surgery. Other iatrogenic causes of perforation include cryosurgery, electrocoagulation for epitaxis, nasotracheal intubation, or nose packing. In recent years drugs such as cocaine account for an increasing number of perforations. It has only been with the use of an external approach for the repair of the nasal septal defect that surgical closure has become easier and more reliable. The external approach allows for greater surgical closure and enables the surgeon to use both hands with the aid of binocular vision to mobilize and suture local mucosal advancement flaps and the intraseptal connective tissue grafts. More recently, surgeons have repaired large septal perforations with a radial forearm free flap. Because of its availability and deep emotional significance, the skin is a common site for self-destructive behavior with the development of factitious skin wounds. When suspected, psychiatric care must proceed immediately. Second, the ulcer can then be healed by appropriate techniques and wound repair. It is important to emphasize that the treating physician must first confront the patient, and then a psychiatrist should provide appropriate psychotherapy. Hidradenitis suppurativa is an inflammatory disease of the skin and subcutaneous tissue that occurs in apocrine-gland-bearing areas distributed in the axilla, mammary nipple areola, mons pubis, groin, scrotum, perineum, perianal region, and umbilicus. The condition has an insidious onset. The susceptibility of women's axillary skin to hidradenitis suppurativa may be related, in part, to the practice of axillary removal of hair with a safety razor. Consequently, the use of safety razors must be avoided and replaced with the use of an electric razor. The method of treatment will vary with the stage of the disease. Treatment of the chronic stage of axillary hidradenitis suppurativa is primarily surgical. More recently, carbon dioxide laser treatment, with healing by secondary intention, is proving to be a rapid, efficient, and economic treatment of this difficult wound.

Desmoid tumors and deep fibromatoses.

Desmoid tumors (also called deep fibromatoses) are rare benign tumors associated with pregnancy and Gardner syndrome. These tumors are characterized by bland-appearing fibroblasts, indistinct margins, and an ability to cause pathology by local invasion and recurrence. They arise in the abdominal cavity, in the abdominal wall, or in the extremities/trunk, each with a slightly different biologic behavior. Though they are not cancer and do not metastasize, desmoids can cause significant morbidity and occasionally death through local/regional invasion of critical structures. Treatment primarily is surgical, although radiation or systemic therapy can be beneficial to the patient when surgery is not feasible. This article highlights the biology and clinical features of desmoid tumors.

[Report of a case of Gardner's syndrome: clinical and epidemiologic considerations and review of the literature]. / A proposito di un caso di "Sindrome di Gardner": considerazioni clinico epidemiologiche e revisione della letteratura.

Familial adenomatous polyposis is a hereditary clinical syndrome characterised by the presence of numerous adenomatous polyps of the colon and rectum and by lesions in other organs. The disease affects various different tissues and characteristically presents a variable biological and clinical behaviour. Colon polyps are precancerous lesions and the certainty of their malignant evolution within the 3rd-4th decades of life is now practically an established, extensively documented fact. Recently, new methods of genetic screening, prevention and early diagnosis and, as a result, more advanced treatment protocols have been introduced in clinical practice, thus offering young patients diagnosed as suffering from familial adenomatous polyposis better prospects and a better quality of life. The patient in our case came in for medical observation for abdominal pain experienced close to the scar of a previous appendectomy and for the presence of an abdominal tumefaction on the same side. Initially the patient underwent surgical resection of the growth that proved to be a desmoid tumour of the abdominal wall. The results of the pathology examination and the patients' long-term disease and family history led to a presumptive diagnosis of familial adenomatous polyposis, which was then confirmed by the appropriate instrumental examinations. Genetic tests on the patient's relatives yielded the same diagnosis in some of them. On the basis of our personal experience and a thorough review of the literature we can safely state that no medical treatment currently available is capable of reducing, let alone definitively eliminating colon polyps. To date, then, the therapeutic options most commonly adopted are colectomy with ileo-rectal anastomosis and total conservative proctocolectomy with an ano-ileal pouch anastomosis. These two types of surgical procedures yield different results in terms of functional capability and oncological radicality with their respective repercussions on the patient's quality of life. The choice of the most appropriate surgical procedure is made on the basis of a series of parameters such as age, site of the polyps, number of polyps, degree of cell atypia of the polyps, and patient willingness to undergo regular check-ups. The current tendency advocated by the various authors is to perform a total colectomy as soon as possible.

Gardner's syndrome in several family members.

This article describes chronologically a case of a fatal hereditary disease, which manifests itself in multiple polyps in the large intestine, accompanied by the appearance of numerous mesenchymal tumors on and under the skin and in the bones. In the Internal Department of the General Hospital Murska Sobota, we diagnosed the disease in one member of the family; in another, we ascertained the illness was retrograde. We confirmed the two cases in our dispensary; one of them remains under the constant surveillance of a gastroenterologist. The disease was in an advanced stage in the two family members at the time of discovery, so the treatment was radical. Nevertheless it terminated fatally. We expect to undertake future radical surgical measures on the other member in whom the disease was diagnosed. In this article, we illustrate the course of Gardner's Syndrome (GS), where in spite of early diagnoses, which now begin with molecular genetics and continues to endoscope examinations, and radical operative intervention, the quality of life of the patient is not improved to any great degree. The patient represents an exceptionally high risk group for the development of other mesenchymal tumors growths and colorectal cancer. The open question is also what is surgical treatment: total colectomy or proctocolectomy and what to do with the ileum when it is full of polyps.

Carcinoma of the ampulla of Vater and mesenteric fibromatosis (desmoid tumor) associated with Gardner's syndrome: problems in management.

To date, 29 patients with Gardner's syndrome have been identified who developed carcinoma of the ampulla of Vater, and many others have been identified with mesenteric fibromatosis (desmoid tumor), but there have been only four cases of Gardner's syndrome with both ampullary carcinoma and mesenteric fibromatosis reported in the world literature. This article focuses on the complications and major problems in management resulting from the simultaneous occurrence of these two known features of Gardner's syndrome: carcinoma of the ampulla of Vater and fibromatosis (desmoid tumor) of the intestinal mesentery.

Home total parenteral nutrition in a "no-bowel" patient in Spain.

OBJECTIVE: To report a case of a patient with no functional bowel who was receiving home total parenteral nutrition in a country that has had a few professional experiences in this area of therapy. CASE SUMMARY: A woman with a history of scattered colonic polyposis developed a mesenteric tumor that caused intestinal obstruction. Tumor withdrawal required the excision of 1.5 m of jejunum-ileum. Postoperative complications required further surgical intervention and subtotal intestinal resection. Duodenocolic anastomosis was not possible and a high output and permanent fistula remained. DISCUSSION: The complications of home parenteral nutrition addressed in the literature are reviewed. The problems encountered in our patient have been resolved. CONCLUSIONS: After three years of postoperative survival, we believe the quality of life of our patient has increased and the parenteral nutrition team members are much better prepared to manage patients with similar problems.