Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
Anemia, Sickle Cell ; Arthritis, Infectious ; Cleidocranial Dysplasia ; Diagnosis ; Gardner Syndrome ; Hyperparathyroidism ; Klippel-Feil Syndrome ; Marfan Syndrome ; Neurofibromatosis 1 ; Osteopetrosis ; Pentalogy of Cantrell ; Poland Syndrome ; Polychondritis, Relapsing ; Retrospective Studies ; Rickets ; Scleroderma, Systemic ; Spondylitis, Ankylosing ; Sternoclavicular Joint ; Thalassemia ; Thoracic Wall ; Tuberculosis

Gardner-associated fibroma (GAF) is a benign lesion of soft tissue which has recently been described and is exceedingly rare in children. GAF is associated with adenomatous polyposis coli gene mutation, familial adenomatous polyposis and desmoid. We report a case of patient with soft tissue tumor on her lower back which was turned out to be GAF. The patient was a 19-month-old female who visited out-patient clinic with palpable mass on her lower back and we performed surgical excision. The tumor was located at subcutaneous and we excised the tumor including surrounding soft tissue. She discharged without any complication on surgery day. The pathologic report showed dense collagenous tissue with spindle cell and adipose tissue, suggestive of GAF. We are planning to check gene study and to perform endoscopy and abdominal ultrasonography for at the age of 4.
Adenomatous Polyposis Coli ; Adipose Tissue ; Child ; Collagen ; Endoscopy ; Female* ; Fibroma* ; Fibromatosis, Aggressive ; Gardner Syndrome ; Humans ; Infant* ; Outpatients ; Ultrasonography

Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.
Adenomatous Polyposis Coli ; Child ; Diagnosis ; Endoscopy, Gastrointestinal ; Epidermal Cyst* ; Gardner Syndrome* ; Humans ; Intestinal Polyposis* ; Jaw ; Male ; Maxilla ; Odontoma ; Osteoma* ; Radiography, Dental ; Scalp ; Stomach ; Tooth, Impacted ; Upper Gastrointestinal Tract

Familial adenomatous polyposis (FAP) is characterized by large numbers of adenomatous polyps in the colon and inherited as an autosomal dominant disease. Gardner's syndrome is a form of FAP accompanied by extra-colonic tumors and desmoid tumors. Desmoid tumors are rare, and benign tumors characterized by fibroblastic proliferation of fascial and musculoaponeurotic components. There is an approximate 1,000 times higher incidence of desmoid tumors in patients with FAP compared with the general population. Desmoid tumors in Gardner's syndrome occur in the small bowel mesentery in 80% of all cases, and the other 20% in the abdominal wall or the extremities. Almost all cases of desmoid tumors in Gardner's syndrome were incidentally found after prophylactic total proctocolectomy for colon cancer prevention in the patients with FAP. We report a case of Gardner's syndrome associated with codon 1099 mutation of the adenomatous polyposis coli gene, in which the patient was initially found to have desmoid tumors and subsequently diagnosed as FAP by screening colonoscopy.
Abdominal Wall ; Adenomatous Polyposis Coli ; Adenomatous Polyps ; Codon ; Colon ; Colonic Neoplasms ; Colonoscopy ; Extremities ; Fibroblasts ; Fibromatosis, Aggressive ; Gardner Syndrome ; Humans ; Incidence ; Mass Screening ; Mesentery

Gardner syndrome, an autosomal dominant inherited condition, is a subtype of familial adenomatous polyposis. It causes lesions in bones, skin, and teeth, as well as multiple gastrointestinal polyps, which, if left untreated, become malignant. Because patients with colorectal cancer have a low survival rate, early diagnosis and treatment of Gardner syndrome is critical. Therefore, the characteristic lesions of Gardner disease that appear on the face, jaws, and oral cavity must be understood; these can be evaluated by oral and maxillofacial clinicians. This report describes a case that was diagnosed and treated earlier with the help of a routine oral and maxillofacial examination and has had a seemingly good prognosis so far.]]>
Adenomatous Polyposis Coli ; Colorectal Neoplasms ; Early Diagnosis ; Gardner Syndrome ; Humans ; Jaw ; Mouth ; Osteoma ; Polyps ; Prognosis ; Skin ; Survival Rate ; Tooth

Pilomatricoma is a benign tumor derived from the hair matrix. Pilomatricoma-like changes have been described in epidermal cysts in Gardner's syndrome. Apart from this association, a cyst can arise from various portions of a hair follicle, and combine to form a hybrid cyst. Follicular hybrid cyst is an interesting pathologic phenomenon, and needs to be explained for their pathogenesis. We present a case in which a pilomatricoma was situated in the immediate vicinity of an epidermal cyst. Histopathologic findings showed that one part of the cyst had a feature of an epidermal cyst, and the other part had a feature of a pilomatricoma.
Chimera ; Epidermal Cyst ; Gardner Syndrome ; Hair ; Hair Follicle ; Pilomatrixoma

Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.
Cleft Lip ; Cleidocranial Dysplasia ; Clinical Protocols ; Dentigerous Cyst ; Gardner Syndrome ; Humans ; Jaw ; Palate ; Tooth, Impacted ; Tooth, Supernumerary

Ectopic teeth (ET) occur in a wide variety of sites such as palate, mandibular condyle, coronoid process, orbit, maxillary antrum and nasal cavity. To date, the precise etiology of ET is still unknown. Although ET can be present in patients without any associated syndrome or development anomaly, it can be frequently associated with cleft lip, palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and etc. The Candida species are yeast fungi, which are pathogenic saprophytes, but the infection of the nose and sinuses is rare. We report a case of cleft lip and palate patient presenting with a history of foul odor, who was found to have an ectopic tooth in the nasal cavity with superimposed candidal infection.
Candida ; Candidiasis ; Cleft Lip ; Cleidocranial Dysplasia ; Fungi ; Gardner Syndrome ; Humans ; Mandibular Condyle ; Maxillary Sinus ; Nasal Cavity ; Nose ; Odors ; Orbit ; Palate ; Tooth ; Yeasts

Epidermoid cysts presents as a nodular and fluctuant subcutaneous lesion beneath the skin and are most common in acne-prone areas of the head, neck and back. This cyst often arises after localized inflammation of the hair follicle and occasionally after the implantation of epithelium following trauma and surgery including a biopsy procedure. It is often associated with Gardner syndrome, particularly before puberty. The lesion is normally treated by a surgical excision or enucleation, and recurrence is uncommon. A 27 year old woman complained of a swelling of the left parotid gland when she visited our clinic. A cystic lesion was found in the left parotid gland from the high signal intensity on the MR images. Ultrasonography showed that the cystic lesion was heterogeneous echogenic. Six months earlier, botulinum toxin was injected in her left masseter muscles six months earlier and progressive swelling of the left parotid area was noticed four months after treatment. The lesion was surgically removed. It was encapsulated by a thin wall and filled mainly with keratin. The final diagnosis was an epidermoid cyst.
Biopsy ; Botulinum Toxins ; Epidermal Cyst ; Epithelium ; Female ; Gardner Syndrome ; Hair Follicle ; Head ; Humans ; Inflammation ; Keratins ; Masseter Muscle ; Neck ; Parotid Gland ; Puberty ; Recurrence ; Skin

Desmoid tumors are uncommon benign neoplasm of the fibroblasts. They occur rarely in the general population, but they are comparatively common in patients with familial polyposis coli with or without other elements of Gardner's syndrome. Herein, we report a 16-year-old woman with Gardner's syndrome complicated by desmoid tumors on the right subscapular area.
Adenomatous Polyposis Coli ; Adolescent ; Female ; Fibroblasts ; Fibromatosis, Aggressive ; Gardner Syndrome ; Humans