Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected. Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected. Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected.
Consanguinity ; Family Characteristics ; Fertility ; Genes, Dominant ; Humans ; Incidence ; Inheritance Patterns ; Neurofibromatoses* ; Neurofibromatosis 1 ; Wills

While for the last thirty years Dapsone (4,4, diaminodiphenyl sulfone; DDS) has been the chemotherapeutic treatment of choice in the management of leprosy, other non-sulfone compounds have been used when patients have shown either sulfone resistance or sulfone sensitivity. Unfortunately, however, there have gradually appeared a significant number of dapsone resistant and non-sulfone resistant patients (i. e., patients resistant to the conventional chemotherapeutic management of leprosy), thus necessitating the synthesis of additional antileprotic medication. At present, it appears that Lamprene (Clofazimine) is the most adequate preparation for the treatment of sulfone and/or other anti-leprotic drug resistant cases, as well as reactive states. The work of Browne and Hogerzeil in 1962, and subsequent studies by ether workers, have demonstrated lamprenes anti-leprotic and anti-inflamatory effects. The drug has also been need successfully in the management of the reactive patient. However, as its most untoward side effect, the drug causes an unsightly darkening of the skin in those areas where the concentration of M. leprae is greatest. Because the literature provides only sparse data on the effect of lamprene on the morphological (MI) and bacteriological (BI) indices of bacteriologically open patients, the authors undertook the following study: Eighteen dapsone resistant patients, two of whom were in lepra, reaction, received a daily dose of 100mg. of lamprene during a period. ranging from 4 to 22 months. Patients were kept under close clinical observation and bacteriological samples were taken at an average of three month intervals from eight different sites on the body, All subjects were in residence at the National Leprosy Hospital of Korea on Sorok island. The study yielded the following results: 1) Within 3 to 8 months after the administration of lamprene, the MI decreas d to the base line in all patients save one. 2) In the short term administered group (less than 10 months), 6 of 1R patients showed a BI increase in inverse proportion to an MI decrease during the initial stage of lamprene administration. However, the BI began to decrease between the 4th and 5th months of treatment. Of the remaining 7 patients, all showed a decrease in both BI and MI. 8) In the long term administered group (more than 10 months), the BI, an indicat- or in the evaluation of long term administration, gradually decreased in 4 of 5 patients. In the remaining patients the BI increased. The authors regard the inverse relationship between the BI and MI as the result of the increment of bacilli secondary to the destruction of M. leprae by lamprene. That groups showed a decrease in both BI and Ml is interpreted as lamprenes biochemical intervention so as to render M. leprae more susceptible to phagocytosis. While. no ready explanation can account for the single case in which the BI increased and the MI also increased, the pos. ibility that there might be a strain of M. leprae resistant to lamprene must be ruled out. thus, given the above results, the authors conclude that lamprene is a valuable antileprotic drug not only for DDF>resistant patients but also for patients in lepra reaction. Moreover, this drug seems to find its best setting in the leprosarium where the untoward side effect of darkened skin does not in any way diminish the patients social relationships.
Clofazimine* ; Dapsone* ; Ether ; Humans ; Korea ; Leprosy ; Leprosy, Lepromatous* ; Phagocytosis ; Skin

Dermoid cyst is rare developmental anomaly with sequestration of embryonic closure line, but there is no suggestian that such an anomaly is inherited. The patients were 41 year old mother and 10 year old daugliter whose skin lesions have been noticed since puberta.lstae in the mother and since birth in the daugther It was interesting for those lesions to be appeared typically on the superior orbital area.
Adult ; Child ; Dermoid Cyst* ; Humans ; Mothers* ; Nuclear Family* ; Orbit ; Parturition ; Skin

The accuracy and sensitivity of both direct and indirect immunofluorescence microseopy in diagnosing chronic bullous dermatoses were evaluated and compared in 11 cases of six different disease entities(pemphigus vulgaris, pemphigus vegetans, bullous pemphigoid, linear IgA bullous dermatosis, familial benign chronic pemphigus), which had been diagnosed clinically and by routine histopa thological studies. And the results obtained were as follows: 1) In 4 cases of bullous pemphigod, the direct IF of perilesional skin showed linear deposition of IgG and C2 along basement membrane zone(BMZ), whereas the indirect IF revealed negetive findings. 2) In 2 cases of pemphigus vulgaris, the direct IF showed deposition of IgG and C2 in intercellular substance(ICS) of perilesional epidermal tissue, and the indirect IF revealed auto-antibody to ICS(1:320) in one case. 3) In 2 cases of linear IgA bullous dermatosis, which were diagnosed as dermatitis herpetiformis by clinical and routine hisopathological findings, the direct IF of perilesional and uninvolved skin manifested linear deposition of IgA, IgM, C3 and F along BMZ, However, no immunofluorescence was detected by the indirect IF. 4) In a case of chronic bullous dermatosis of childhood, the direct IF of perilesional skin showed linear deplosition of IgA and IgM along BMZ. 5) In a case of pemphigus vegetans, the direct IF revealed no specific findings, while the inderect IF disclosed auto antibody positive to ICS(1:40). 6) In a case of familial benign chronic permphigus, no immunofluorescence was found by direct IF. These results indicate that both direct and indirect immunofluorescence micros-copy are valuable in diagnosing chronic bullous dermatoses and in understanding their immune pathogenesis.
Basement Membrane ; Dermatitis Herpetiformis ; Fluorescent Antibody Technique ; Fluorescent Antibody Technique, Indirect ; Immunoglobulin A ; Immunoglobulin G ; Immunoglobulin M ; Linear IgA Bullous Dermatosis ; Pemphigoid, Bullous ; Pemphigus ; Skin ; Skin Diseases ; Skin Diseases, Vesiculobullous*

Sole prints were analyzed from one thousand normal volunteers (500 males and 500 females) to establish dermatoglyphics of Korean people, and the following resuIts were obtained: The triradius P was present in 49.1% of the right soles and 40.6% of the lefts, or 44.9% of the entire series. The fibular radiant of triradius P was directed into the fourth interdigital intervals in 54.9% of the soles, and the next common terrninations were in the digital triradius c 15.3%, the third interdigital interval, 12. 5% and distal portion of the fibular border, 9.4%. In right soles the tendeney was for the radiant to extent farther tibialward than in lefts, where the inverse tendency was reflected in sharp rise in the number of endings on the fibular borders and decrease of endings tibialward. The distal radiant of triradius P terminated in the first interdigital interval, 46.5%, the interdigital triradius a, 32. 5%, and the second interdigital interval,. 20.5%, and rarely the distal radiant fused with digital triradius, 0.6% Of the alignments of ridges of the soles, 72.7;. of the soles exhibited transvcrsely coursing ridges in the mid-region, and the remainder were slight fibuloproximal slants,Grade 2) 18.2%, and slight fibulodistal slants (Grade 4) 8, 7%. There was a tendency of right soles to favor the fibulo-proximal slant, and of lefts, the fibulo-distal sIant. In the calcar region 44.1% of the soles presented a slight fibulo-distal slant, and the next cmmon direction was transverse, 37.4% Right soles tended more to the transverse alignment, while lefts displayed a ... (continue)
Dermatoglyphics ; Healthy Volunteers ; Humans ; Male

In search for animal model of systemic candidiasis, the authors attempted to infect the mice with Candida albicans (CUMD 23 and CUMD 25) isolated from human subjeets and study the mode of infection and pathogenesis. Swiss mice were inoculated with these organisrns either intravenously or intraperitoneally. After deterrnining the lethal doses of the pathogens at 30th day, another group of mice were inoculated with a sublethal dose. They were sacrificed weekly up to 4 weeks and the organs were examined mycologically and histopathologically. The results show that strain CUMD 23 is more virulent than CUMD 25. The most susceptible organ to C. albicans is the kidney followed by the peritoneum, mesentery and the pancreas. In the early lesion, C. atbicans generally show the spore form in the peritoneum, mesentery and the kidney when injected intraperitonea,lly but as time went by it rather took the hyphal form especially in the kidney. In the case of intravenous injection, the hyphal masses were seen in the kidney more quickly. With this result, it is suggested that the dissemination of C. albicans occurs easily in the latter and the spores reaching the kidney transform into hyphae which are not easily subjected to phagocytosis.
Animals ; Candida albicans* ; Candida* ; Candidiasis ; Humans ; Hyphae ; Injections, Intravenous ; Kidney ; Mesentery ; Mice* ; Models, Animal ; Pancreas ; Peritoneum ; Phagocytosis ; Spores

Melanocytes were identified by the dopa reaction, and counted in vertical sections of 183 specimens of normal skin and 218 specimens of patients with pigmentary disorders. The incidence of dopa-positive cells in the basal layer was determined. One cell in 9 in the basal layer was dopa-positive in normal specimens. There was no significant difference in the incidence of dopa-positive cells between male and female and between adult and children. Specimens from face, neck and prepuce revealed comparatively high incidence of dopa-positive cells. Among pigmentary disorders, vitiligo and halo area of halo nevus were characterized by an abscence or marked reduction in the number of dopa-positive cells, but lentigo and cafe-au-lait spot were characterized by an increase in their number In tuberous sclerosis, tinea versicolor and idiopathic guttate hypomelanosis, there wasn't any change of the melanocyte population between lesional skin and normal skin. The significance of these findings in vertical skin sections was discussed.
Adult ; Cafe-au-Lait Spots ; Child ; Dihydroxyphenylalanine* ; Female ; Humans ; Hypopigmentation ; Incidence ; Lentigo ; Male ; Melanocytes ; Neck ; Nevus, Halo ; Skin* ; Tinea Versicolor ; Tuberous Sclerosis ; Vitiligo

We herein described a female newborn baby who, on the day of birth, exhibited widespread discrete reddish purple colored, round and slightly hyperkeratotic papules measuring about 4 mm in size, the biopsy specimen of which showed the histologic findings of histiocytosis X. The skin lesions resolved spontaneously within a week. The following diseases were discussed as possible diagnoses; histiocytosis X, generalized eruptive histiocytoma, juvenile xanthogranuloma, congenital self-healing reticulohistiocytosis and xanthoma disseminaturn. Since the current case didn't fit well any of them, we proposed a new descriptive term for this : Histiocytoma Papulosa Benigna Congenita.
Biopsy ; Diagnosis ; Female ; Histiocytoma* ; Histiocytosis, Langerhans-Cell ; Humans ; Infant, Newborn ; Parturition ; Skin ; Xanthogranuloma, Juvenile ; Xanthomatosis

Familial Benign Chronlc Pemphigus (Hailey-Hailey disease) is relatively rare, persistent, recurrent vesiculo-bullous and inheritable dermatitis. Forty-nine and twenty four year-old two Korean men,affecting classical form of Hailey-Hailey disease, manifested circinated or configurated form of impetiginous, vesiculo-bullous, crusted and pigmented skin lesions over the axillae, neck, shoulder, lower abdornen, inguinal, inner aspect of upper portion of thigh, genito-crural and popliteal space of the skin, There were seen also actively inflammatory border that spread peripherally producing circinate and configurate patterns, and found satellite lesions resembling cutaneous candidiasis in some areas of the lesion. However, eye lesion or lymphnode swelling was not found. Nikolsky sign was present in both patients. The patients had pruritus, intense or slight, over the lesion. The onset of the disease in the cases was mid-twenty and early twenty, and the durations were over twenty years and three years, respectively, and genetic observation on the families revealed that four persons in the two generations and eight persons in the four generations were affected, respectively, and ratio of male to female affected were 5: 1. Routine laboratory examinations including bacteriological and mycological studies revealed non-specific findings. Histopathologic studies showed acantholytic and individual cells in the intra-epidermal bulla, and lacunae, villi, single basal cell lined papillae appearing at the bottom of the bulla, and so-called "dilapidated brick wall" appearance to be seen at the top of blula. Authors discussed the gentic pattern of Familial Benign Chronic Pemphigus (Hailey-Hailey disease) in the two families and presented two cases of the disease with laboratory examinations, histopathological findings and clinical symptoms of the patients, and confirmed that the disease is transmitted as "irregular autosomal dominant" trait, and stressed the difference in frequency, of the diseae according to sex, I.e., in male were more prevalent than female, and reviewed the related literatures af the disease.
Axilla ; Candidiasis, Cutaneous ; Dermatitis ; Family Characteristics ; Female ; Humans ; Male ; Neck ; Pemphigus ; Pemphigus, Benign Familial* ; Pruritus ; Shoulder ; Skin ; Thigh

Familial Benign Chronlc Pemphigus (Hailey-Hailey disease) is relatively rare, persistent, recurrent vesiculo-bullous and inheritable dermatitis. Forty-nine and twenty four year-old two Korean men,affecting classical form of Hailey-Hailey disease, manifested circinated or configurated form of impetiginous, vesiculo-bullous, crusted and pigmented skin lesions over the axillae, neck, shoulder, lower abdornen, inguinal, inner aspect of upper portion of thigh, genito-crural and popliteal space of the skin, There were seen also actively inflammatory border that spread peripherally producing circinate and configurate patterns, and found satellite lesions resembling cutaneous candidiasis in some areas of the lesion. However, eye lesion or lymphnode swelling was not found. Nikolsky sign was present in both patients. The patients had pruritus, intense or slight, over the lesion. The onset of the disease in the cases was mid-twenty and early twenty, and the durations were over twenty years and three years, respectively, and genetic observation on the families revealed that four persons in the two generations and eight persons in the four generations were affected, respectively, and ratio of male to female affected were 5: 1. Routine laboratory examinations including bacteriological and mycological studies revealed non-specific findings. Histopathologic studies showed acantholytic and individual cells in the intra-epidermal bulla, and lacunae, villi, single basal cell lined papillae appearing at the bottom of the bulla, and so-called "dilapidated brick wall" appearance to be seen at the top of blula. Authors discussed the gentic pattern of Familial Benign Chronic Pemphigus (Hailey-Hailey disease) in the two families and presented two cases of the disease with laboratory examinations, histopathological findings and clinical symptoms of the patients, and confirmed that the disease is transmitted as "irregular autosomal dominant" trait, and stressed the difference in frequency, of the diseae according to sex, I.e., in male were more prevalent than female, and reviewed the related literatures af the disease.
Axilla ; Candidiasis, Cutaneous ; Dermatitis ; Family Characteristics ; Female ; Humans ; Male ; Neck ; Pemphigus ; Pemphigus, Benign Familial* ; Pruritus ; Shoulder ; Skin ; Thigh