Epidermolysis bullosa simplex (EBS) is a group of autosomal dominantly inherited genetic disorders characterized by blistering due to mechanical- stress-induced degeneration of basal epiderrnal cells. Recently, it was discovered that EBS is induced by keratin 5 and 14 gene mutations. Weber Cockayne (W-C) EBS is the mildest type, with blistering concentrates primarily on palar and plantar regions, and basal cell cytolysis by keratin filament perturbations is present. Herein we report a case of W-C EBS with its ultrastructural findings. Electron microscopy showed cytolysis and separation of the basal epidermal cells, mainly at the subnuclear cytoplasm. The cyto- plasm of basal cells showed edema, loosening and intact rnitochondria. Besides the cytoplasmic changes, the nucleus also showed lytic degeneration. Characteristically, dense condensation of tonofilarnent was observed, which suggests that W-C EBS is. also a disorder of keratin.
Blister ; Cytoplasm ; Edema ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Keratin-5 ; Microscopy, Electron

No abstract available.
Constriction* ; Heart Ventricles* ; Pulmonary Artery* ; Rabbits*

We report four cases of hyalinosis cutis et mucosae. They developed hosrseness in their infancy and all had past history of frequent skin infections with accompanying varioliform scars. On physical examination, all the patients had beaded papules along their eyelid margins, hoarseness, varioliform scars and various skin and mucous membrane infiltrations. Pathologic examinations performed on skin infiltrations and eyelid papules revealed diastase resistant periodic acid Schiff positive materials deposited mainly in upper dermis. We have given three of four patients 1g/day of dimethyl sulphoxide from 6 to 12 months with no significant side effects nor remarkable clinical improvement.
Amylases ; Cicatrix ; Dermis ; Dimethyl Sulfoxide ; Eyelids ; Hoarseness ; Humans ; Lipoid Proteinosis of Urbach and Wiethe* ; Mucous Membrane ; Periodic Acid ; Physical Examination ; Skin

Botulium toxin A has been used therapeutically in humans for over 20 years for a variety of medical indications. Some wrinkle and unsightly facial expressions are due to hyperkinetic muscle. For the past year, the author has injected it for variant purpose, so we describe the our experience with the variant extended use of the toxin including correction for just dynamic wrinkle, used with subperiosteal face lifting or peeling, post-traumatic twitching, and facial paralysis and relevant anatomy are discussed. Also we have another concept about muscle anatomy which have superficial and deep portion. The superficial portion is for harmonious action with SMAS during facial expression, which is also related to fine wrinkle, and the deep portion play role gross movement. Botulium toxin is safe and effective in varient field without complication. Its use is associated with a high degree of patient and physician satisfaction.
Exotoxins* ; Facial Expression ; Facial Paralysis ; Humans ; Rhytidoplasty

Melanosis coli is the brownish pigmentation of the colon associted with the ingestion of anthraquinone compounds as iaxatives. The brownish discoloration of the colon mucosa is due to accumulation of macrophage containing lipofuscin pigment in the lamina propria. This is the one of the complications of laxative abuse, but the pigments disappear by withdrawing the anthraquinone. We report a case of malanosis coli histologically confirmed by fibersigmoidoscopic biopsy in a 70-year-old female patient consuming anthraquinone compound for twelve months with a review of the literature.
Aged ; Biopsy ; Colon ; Eating ; Female ; Humans ; Lipofuscin ; Macrophages ; Melanosis* ; Mucous Membrane ; Pigmentation

We reviewed the clinical epidermiologic features and skin biopaies of 23 patients who were diagonosed with sparganosis. Clinically, the parasites were obtained from the lesions and confirmed histopathologically. The purpose of this study was to evaluate the elinical, epidemiological, and histopathological charaeteristics of sparganosis. The results are summurized as follows : 1. There were no difference between male (48%) and female (52%) patients. 2. Age distribution, at first visit, were variable, ranging from 7 to 75, with the mean age of 40 years-old. 3. Duration of symptoms were variable, ranging from 10 years to 15 years, with a mean duration of 3 years. 4. Frequency of clinical features were as follows; movable or fixed subcutaneous nodule (16 cases), subcutaneous nodule with pain & focal warmth t.o touch (6 cases), seizure (I case). 5. Number of parasites per lesion were single lesion with single, parasite (21 cases), single lesion with two parasites (2 cases) and three parasites (3 case). 6. Frequency of location of lesion were abdominal wall (8 cases), thigh (4 cases), breast (3 cases), scrotum (3 cases), arm (3 cases), buttoek (1 cases), ciiest wall (1 case), brain (1 case). 7. The histological change of the affected tissue were characterized as follows ; 1) necrotizing and granulomatous tissue with or without parasif os in the lesions. 2) some cases were associated with marked fibrosis or formation of lymphoid follicles. 3) There were many lympho-histocytes, eosinophils, giant cel1s and some plasma cells near the lesions.
Abdominal Wall ; Adult ; Age Distribution ; Arm ; Brain ; Breast ; Eosinophils ; Female ; Fibrosis ; Humans ; Male ; Parasites ; Plasma Cells ; Scrotum ; Seizures ; Skin ; Sparganosis* ; Thigh

No abstract available.
Heart Defects, Congenital* ; Plasma*

There are many known methods of dermo-epidermal separation for the investigation of autoimmune blistering diseases. Investigators should select a proper method since many differences exist preservation of antigenicity. In order to determine the stabilization of antigenirity by different separation methods, we have separated dermo-epidermal junction by means of 1M s;ilt, 56C PBS, 20mM EDTA and dispase. Indirect immunofluarescence and immunoblotting were performed on each specimen with sera of patients with pemphigus vulgaris, pemphigus foliaceus, paraneoplastic pemphigus, bullous pemphigoid and epidermolysis bullosa acquisita. The results are as follows : 1. In indirect immunofluorescence study of pemphigus group, best, result were obtained when normal skin without dermo-epidermal separation was used. Dispase well preserved antigenicity of pemphigus after dermo-epidermal separation, but no differences were noted in antigenicity stabilization among separation mehods by immunoblotting. 2. In indirect immunofluorecence study for differentiation of bullous pemphigoid and epidermolysis bullosa acquisita, we recommend EDTA and dispase methods in addition to 1M salt induced skin separation that have been most popularly used. 3. Results of the immunoblotting of bullous pemphigoid showed that 1M salt, EDTA and heat preserved the antigenicity well but the antigenicity was lost by dispase. 4. Results of the immunoblotting of epidermolysis bullosa acquisita she wed that antigen did not exist in epidermal extract. 5. Antigen preservation according to the different methods of demo-epidermal separation was not identical between indirect immunofluorescence and immunoblotting.
Blister* ; Edetic Acid ; Epidermolysis Bullosa Acquisita ; Fluorescent Antibody Technique, Indirect ; Hot Temperature ; Humans ; Immunoblotting ; Pemphigoid, Bullous ; Pemphigus ; Research Personnel ; Skin

Our purpose is to describe a successful twin pregnancy and delivery after intracytoplasmic sperm injection (ICSI) followed by calcium ionophore with spermatozoa from a globozoospermic man. On the second attempt of ICSI, all of eight metaphase II oocytes were fertilized with treatment with calcium ionophore. Day 3 transfer of six normally developing embryos resulted in an ongoing twin pregnancy, and two preterm healthy babies were born in the 33th week of gestation. To the best of our knowledge, this is the first report of pregnancy and delivery after ICSI followed by calcium ionophore with spermatozoa from a globozoospermic man in Korea.
Calcium* ; Embryonic Structures ; Humans ; Metaphase ; Oocytes ; Pregnancy ; Pregnancy, Twin* ; Sperm Injections, Intracytoplasmic* ; Spermatozoa*

No abstract available.
Cyclic GMP* ; Cytomegalovirus* ; Gene Expression* ; Humans*