Colorectal cancers (CRC)-and probably all cancers-are caused by alterations in genes. This includes activation of oncogenes and inactivation of tumor suppressor genes (TSGs). There are many ways to achieve these alterations. Oncogenes are frequently activated by point mutation, gene amplification, or changes in the promoter (typically caused by chromosomal rearrangements). TSGs are typically inactivated by mutation, deletion, or promoter methylation, which silences gene expression. About 15% of CRC is associated with loss of the DNA mismatch repair system, and the resulting CRCs have a unique phenotype that is called microsatellite instability, or MSI. This paper reviews the types of genetic alterations that can be found in CRCs and hepatocellular carcinoma (HCC), and focuses upon the epigenetic alterations that result in promoter methylation and the CpG island methylator phenotype (CIMP). The challenge facing CRC research and clinical care at this time is to deal with the heterogeneity and complexity of these genetic and epigenetic alterations, and to use this information to direct rational prevention and treatment strategies.
Colorectal Neoplasms/genetics ; DNA Methylation/*genetics ; Gastrointestinal Neoplasms/*etiology/*genetics ; Humans ; Microsatellite Instability ; Promoter Regions, Genetic/*genetics

A cutaneous angiomyolipoma, which is also known as a cutaneous angiolipoleiomyoma, is a rare benign mesenchymal tumor. Only 18 cases have been reported in the English literature. We describe a case of an angiomyolipoma presenting on the right ear helix of a 26-year-old female. The histopathologic examination revealed a typical form of an angiomyolipoma with a proliferation of mature adipocytes. As with all previously reported cases, our patient did not present with the stigmata of tuberous sclerosis. This is the 20th reported case of cutaneous angiomyolipoma and the 3rd reported case in Korea.
Adipocytes ; Adult ; Angiomyolipoma ; Christianity ; Ear ; Female ; Humans ; Tuberous Sclerosis

Churg-Strauss syndrome (CSS) or allergic granulomatosis angiitis is a rare primary vasculitic disease. CSS can be diagnosed by the presence of any four or more of the six criteria, which include asthma, eosinophilia greater than 10%, paranasal sinusitis, pulmonary infiltration, histological proof of vasculitis and mono- or poly-neuropathy. We report here on a 45-year-old male who developed erythematous macules, papules and hemorrhagic vesicles on both right extremities along with a tingling sensation and sacral pain. He has been suffering from recurrent allergic rhinitis and bronchial asthma for 6 months. The laboratory findings showed severe eosinophilia (22.3%), hyper-IgE and positivity for p-ANCA. On the histological examination of the hemorrhagic vesicle on the right lower leg, leukocytoclsatic vasulitis and many neutrophils and eosinophils around the cutaneous vessels were observed in the dermis.
Antibodies, Antineutrophil Cytoplasmic ; Asthma ; Churg-Strauss Syndrome ; Dermis ; Eosinophilia ; Eosinophils ; Extremities ; Humans ; Leg ; Male ; Middle Aged ; Neutrophils ; Rhinitis ; Rhinitis, Allergic, Perennial ; Sensation ; Sinusitis ; Stress, Psychological ; Vasculitis

Hydroa vacciniforme (HV) is a photosensitivity disorder characterized by recurrent necrotic vesiculopapules on sun-exposed areas, which heal spontaneously during adolescence. Recently, an association has been reported between latent Epstein-Barr virus (EBV) infection and atypical HV-like eruption and malignant potential. However, latent EBV infection has also been reported in the setting of typical HV. An 11-year-old girl presented with recurrent, scattered, discrete vesicular eruptions with scarring on the face and the extensor surfaces of both forearms. In-situ hybridization was carried out to detect latent EBV infection. Based on the clinical and histopathological findings, typical EBV-associated HV was suspected.
Adolescent ; Child ; Chimera ; Cicatrix ; Epstein-Barr Virus Infections ; Forearm ; Herpesvirus 4, Human ; Humans ; Hydroa Vacciniforme ; Photosensitivity Disorders

Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter-like telangiectasias of the upper body, oral, and nasal mucous membranes, and nail beds. A 73-year-old woman presented with purpuric, punctuate, and tiny macules on the finger tips of both hands and the tongue. The skin lesions were discovered about 50 years previously. She had a family history of cutaneous telangiectasia. Also, she had episodes of recurrent epistaxis, gastrointestinal bleeding, and anemia. The gastroendoscopy revealed gastric angiodysplasia of the fundus and body of the stomach. The histopathologic study showed dilated capillaries lined by flat endothelial cells in the papillary dermis. From these findings, we diagnosed this case as hereditary hemorrhagic telangiectasia, which has rarely been reported in the dermatologic literature.
Aged ; Anemia ; Angiodysplasia ; Capillaries ; Dermis ; Endothelial Cells ; Epistaxis ; Female ; Fingers ; Hand ; Hemorrhage ; Humans ; Mucous Membrane ; Nails ; Skin ; Stomach ; Telangiectasia, Hereditary Hemorrhagic ; Telangiectasis ; Tongue

Food-dependent, exercise-induced anaphylaxis (FDEIA) is the triggering of anaphylaxis after ingestion of certain foods when followed by physical exercise. Symptoms vary from the typical generalized urticaria to severe allergic reactions. We report the case of a 20-year-old woman who had a 7-year history of recurrent wheals and dyspnea after ingesting several kinds of food (wheat, pork, and beef) along with physical exercise. Based on a provocation test, she was diagnosed with wheat-dependent, exercise-induced anaphylaxis. She was instructed to take 2 mg of ketotifen 2 hours before ingestion of wheat to prevent the symptoms, and subsequently the provocation test did not elicit wheals. We therefore prescribed ketotifen (1 mg twice a day). She has not had recurrent wheals or dyspnea for 6 months. We herein report an interesting case of wheat-dependent, exercise-induced anaphylaxis with successful prevention by ketotifen.
Anaphylaxis ; Dyspnea ; Eating ; Exercise ; Female ; Humans ; Hypersensitivity ; Ketotifen ; Triticum ; Urticaria ; Young Adult

Diagnosis of scabies in young children can be challenging since the morphology and distribution of skin lesions may differ from adults. Therefore, clinicians should keep scabies in mind in their differential diagnosis in a child who presents with severe pruritic, polymorphic skin lesions. Regarding the treatment of scabies, the reported clinical experience with gamma benzene hexachloride (lindane) in young children is quite limited because of its neurotoxicity. However, a recent review suggests that lindane is an excellent alternative drug with minimal risk. We report the case of a 2-month-old male infant with pruritic, erythematous macules, papules, nodules, vesicles, and pustules from the top of the head to the tip of the toes. Initially, he was thought to have impetigo and antibiotics were prescribed. After obtaining a careful history and with the use of skin scraping, he was diagnosed with scabies. He was successfully treated with lindane with no adverse reactions.
Adult ; Anti-Bacterial Agents ; Child ; Diagnosis, Differential ; Head ; Humans ; Impetigo ; Infant ; Lindane ; Male ; Scabies ; Skin ; Toes

Pigmented Bowen`s disease is characterized by increased melanin pigment in the epidermis or papillary dermis, in addition to the typical findings of Bowen`s disease. This disorder has been infrequently reported and it represents less than 2% of all cases of Bowen`s disease. Thus far, there has been only 1 case of pigmented Bowen`s disease on the umbilicus in the medical literature, and no such case has been reported in Korea. Pigmented Bowen`s disease develops on sun-exposed areas of the face and neck, as well as sun-unexposed areas like the trunk, extremities, perianal area and umbilcus. A 36-year-old man presented with a 9-month history of solitary dark brown slithery or wavy plaque with a verrucous surface on the umbilicus, and the lesion measured 1 x 2 cm in size. The histopathologic findings showed hyperkeratosis, parakeratosis and atypical keratinocytes disorderly arranged throughout the epidermis. Increased melanin pigment was noted in the basal layer of the epidermis. From these findings, we diagnosed this lesion as pigmented Bowen`s disease.
Adult ; Dermis ; Epidermis ; Extremities ; Humans ; Keratinocytes ; Korea ; Melanins ; Neck ; Parakeratosis ; Umbilicus

Leukemia cutis is the cutaneous involvement of leukemic neoplastic cells. It is an uncommon feature of systemic leukemia, and is associated with a poor prognosis. A 20-year-old man presented with a solitary, 2 cm dome- shaped, firm, erythematous nodule on the right medial malleolus that was present for 3 months. The patient had a history of venous catheter insertion at the right medial malleolus area 3 months previously. The history was significant for acute lymphoblastic leukemia (ALL) for 4 years; an allogenic bone marrow transplantation was performed 3 years earlier. The histologc examination of the lesion revealed diffuse infiltration of leukemic cells in the dermis and subcutis. Herein we report a case of leukemia cutis at the site of a prior catheter insertion in a patient with ALL
Bone Marrow Transplantation ; Catheters ; Dermis ; Humans ; Leukemia ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Prognosis ; Young Adult

Lipoma is the most common neoplasm of mesenchyme, and several subtypes have been described that vary according to their location and the presence of other tissue elements. Angiomyxolipoma is a very rare variant that consists of an admixture of adipose and myxoid elements with numerous vascular structures. It should be differentiated from other subtypes of benign and malignant lipomas. Here the case of a 69-year-old male is described who presented with a solitary asymptomatic mass on the left iliac crest. The histopathologic findings showed alternating nests of myxoid and adipose tissue containing dilated blood vessels, which was consistent with angiomyxolipoma.
Adipose Tissue ; Aged ; Blood Vessels ; Humans ; Lipoma ; Male ; Mesoderm ; Subcutaneous Tissue