The Dowling-Meara type of epidermolysis bullosa simplex(EBS) is genetic disease that is transmitted as an autosomal dominant trait and is charscterized clinically by pherpetiform clustering of blisters and palmo-plantar keratoderma. The disease usually presents at with or in early infancy. Although serious and hemorrhagic Wers may occur on any part of the body, the lesions heal without scaning in general. The disease shows a tendency to improve by progressian of age and it usually follows a relatively benign course. Microecopically, there are intraepidermal bli.ter s forming as a result of cytolysis of basal cells. In addition, the is a highly characteristic clumping of tonofilaments of keratinocytes in the lower epidermis, which is not seen in any other form of EBS. We report a case of Dowling-Meara type of EBS that is first destribed in Korean medical literatures.
Blister ; Epidermis ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Intermediate Filaments ; Keratinocytes

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

Epidermolysis bullosa simplex (EBS), characterized by a cleavage plane through basal keratinocytes, is caused by a mutation of the genes encoding keratin 5 and 14. It is often regarded as the least severe form of Epidermolysis bullosa. In 1886, Koebner described the seasonal blisterings predominantly on the palms and soles but occurring on the other sites of friction with clothes as well. His name is often used to describe EBS with the generalized blisterings. We have experienced a case of Koebner variant of EBS in a two-day old male neonate whose father had the same EBS. Hereby, we report his clinical, histopathological findings with a brief review of the literature.
Blister ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Fathers ; Friction ; Humans ; Infant, Newborn ; Keratin-5 ; Keratinocytes ; Male ; Seasons

Dystrophic epidermolysis bullosa is a rare, chronic non-inflammatory bullous disease with a hereditary pattern of occurrence, and this disease easily produces bullae that heal with scarring and milium formation. A 13-month-old female baby was brought to the department of dermatology with multiple variable sized bullae and erythematous to dark brownish patches and crusts on both her feet. The histopathologic findings showed subepidermal non-inflammatory blisters and the electron microscopic findings showed vacuolization of the sublamina densa and broken anchoring fibrils. On the basis of the clinical and microscopic findings, she was diagnosed as having dominant dystrophic epidermolysis bullosa. We report here on a case of dominant dystrophic epidermolysis bullosa with the clinical, histological and electron microscopic findings, as well as the family history of the patient.
Blister ; Cicatrix ; Dermatology ; Electrons ; Epidermolysis Bullosa Dystrophica ; Epidermolysis Bullosa Simplex ; Female ; Foot ; Humans ; Infant

Epidermolysis bullosa (EB) is a rare genetic disease that is known for continuous skin blistering caused by minor trauma. The skin blisters and bullae that develop often cause skin defects. There is no definitive treatment for EB, only symptomatic relief. We report our experience with cultured allogenic keratinocyte grafting in a newborn patient with EB simplex who had unhealed raw surfaces and was not a skin grafting candidate. The skin lesions of the patient were covered with cultured allogenic keratinocyte grafts and re-epithelialized quickly with no scarring. Allogenic keratinocyte grafting reduced pain and produced noticeable improvements in the unhealed wounds. We think that allogenic keratinocyte grafting can play an important role in the management of patients with EB simplex.
Blister ; Cicatrix ; Epidermolysis Bullosa ; Epidermolysis Bullosa Simplex ; Humans ; Infant, Newborn ; Keratinocytes ; Methylmethacrylates ; Polystyrenes ; Skin ; Skin Transplantation ; Transplants

The Dowling-Meara type of epidermolysis bullosa simplex is a rare genodermatosis transmitted by autosomal dominant pattern. It starts during the first 3 months of life and is characterized by generalized bullae in a herpetiform pattern. We report two cases of Dowling-Meara type of epidermolysis bullosa simplex. The first case is an 18-year-old male patient who showed bullae in a herpetiform arrangement on the dorsa of both hands, forearms, and trunk, hyperkeratosis on the palms and soles, postinflammatory hypo- and hyperpigmentations, and dystrophy of finger and toe nails. The second case is a 1-month-old boy who showed multiple bullae in a herpetiform and confluent arrangement scattered on the whole body, particularly on the dorsa of both feet and hands. Microscopically and electro-microscopically, two cases all showed intraepidermal blisters formed within the basal keratinocyte in association with clumping of the tonofilaments and cytolysis of the basal cells.
Adolescent ; Blister ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Fingers ; Foot ; Forearm ; Hand ; Humans ; Infant, Newborn ; Intermediate Filaments ; Keratinocytes ; Male ; Toes

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare subtype of EBS and characterized by blistering of the skin, mottled pigmentation, and palmoplantar hyperkeratosis. We report a 3-year-old boy with mottled pigmentation on the posterior neck, flank, buttock, and extremities, blisters on palm, and skin-colored keratotic papules on the hands and feet. He had had a history of blistering on his calves. His mother has similar skin lesions to her son's.
Blister ; Buttocks ; Child, Preschool ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Extremities ; Foot ; Hand ; Humans ; Male ; Mothers ; Neck ; Pigmentation* ; Skin

Four cases of incontinentia pigmenti (Bloch-Sulzberger type) in a mother and three her daughter were presented and literatures were reviewed. In all three daughters vesicles appeared on toes at three weeks after birth and ehanged to pigmented patches surrounded by erythematous verrucous margin, which were then gradually spread to whole body. Pigmentation is dirty, irregular and bizarr. Severe itching sensation was complained and vesicles or bulla were formed easily due to scratching and external trauma. In mother, onset of the disease was not clear but generalized dirty pigmentation is showed. Dentition was delayed in 3rd daughter (Dental eruption was begun at 10 month old and 11 teeth was showed at now, 2 year old). Histopathological findings are compatible with incontinentia pigmenti and epidermo-dermaI separation is observed in a experimentally induced bullae, indicating a characterized epidermolysis bullosa. Strict limitation in the occurence of disease in females of one family, accompanying with epidermolysis bullosa simplex is unusual and interesting in genetical aspects and pathogenesis.
Dentition ; Epidermolysis Bullosa ; Epidermolysis Bullosa Simplex ; Female ; Humans ; Incontinentia Pigmenti* ; Infant ; Mothers ; Nuclear Family ; Parturition ; Pigmentation ; Pruritus ; Sensation ; Toes ; Tooth

We report a case of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), which was associated with congenital pyloric atresia (PA) and various urologic abnormalities, a diagnosis confirmed by immunofluorescence mapping and electron microscopic findings. Immunofluorescent mapping showed the serum from a patient with bullous pemphigoid faintly binding to the floor of the blister, and monoclonal antibodies against type IV and VII collagens were also stained on the floor of the blister. Electron microscopy showed epidermolytic cleavage and prominent clumping of tonofilaments in the basal and suprabasal keratinocytes. An abdominal radiograph and barium swallow showed a complete obstruction at the pyloric channel level. The widespread bullae healed without any scar formation and the bullae formation was localized on the extremities after 3 months of age without any specific treatment. Multiple urologic abnormalities such as bilateral hydronephrosis, hydroureter and a distended bladder with trabeculation were observed at 12 months of age. Currently, with the patient at 4 years of age, bullae still appear on the hands and feet and nail shedding can be observed. The patient's father, a paternal uncle and a paternal aunt had had similar bullous eruptions in infancy, all of which had improved spontaneously by the age of one.
Case Report ; Collagen/metabolism ; Epidermolysis Bullosa Simplex/pathology ; Epidermolysis Bullosa Simplex/metabolism ; Epidermolysis Bullosa Simplex/complications* ; Human ; Infant, Newborn ; Male ; Pylorus*/radiography ; Stomach Diseases/radiography ; Stomach Diseases/complications* ; Urologic Diseases/congenital* ; Urologic Diseases/complications*

Epidermolysis Bullosa Simplex is characterized by autosomal dominant rnheritance, and chronic noninflammatory conditions in which the clinical lesions, erosion, blisters usually result from relatively minor mechanical trauma to the skin, especially joints of hands, elbows, knees, and feet and other sites subject to repeated trauma The lesiona are present or appeared after a few days after birth or shortly after especialy of the lower legs or feet, and not involved at naiIs or mucous membranes. Though infection is not common on the feet or hands, even infected lesions generally heal with out scarring. 2 cases of Epidermolysis bullosa simplex were experienced, the one was 5 month old male baby who had fresh vesiculobullous, hemorrhagic bulla, crusts, exfoliation, no nail dystrophy, since a few days after birth. The another was 5 month old female baby, who had pea sized tense bulla, and exfoliations on the hands and feet. Diagnosis confirmed by clinical features and histological findings. Literature were reviewed in comparison with mechanobulIous disease.
Blister ; Cicatrix ; Diagnosis ; Elbow ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Female ; Foot ; Hand ; Humans ; Infant ; Joints ; Knee ; Leg ; Male ; Mucous Membrane ; Parturition ; Peas ; Skin ; Transcutaneous Electric Nerve Stimulation