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

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

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*

This study was attempted mainly to estimate the frequency of ichthyoses and its genetic characteristics among general population in Chonnam Province. One hundredand thirtyone subjects heing comprised of 121 with ichthyosis vulgaris, 6 with X-linked recessive ichthyosis and 4 with lamellar ichthyosis visited the department of Dermatology, Chonnam National University Hospital from 1971 through 1980. All except 7 patients had visited the hospital with chief complaints of a skin problem other than ichthyoses itself. The frequency of ichthyosis vulgaris seems to be somewhere between, 1/300 and 1/400. 86% were found to either be sporadic cases or come from families from which not enough information was obtained to define a mode of inheritance. The fact that 43% of the sibling of affected patients developed ichthyosis vulgaris points out that it is a highly penetrant autosomal dominant, disease. Skipped generation was observed in 2 families, and gonadal mosaicism in 1 family. Atopic diseaaes were found only in 12.0% of cnses of ichthyosis vulgaris. The disease appeared in 81% of cases before 1 year af age. The skin lesions of ichthyoses were developed on the lower limhs, back, upper limbs, abdomen and scalp in the order of frequency.
Abdomen ; Dermatology ; Gonads ; Humans ; Ichthyosis Vulgaris ; Ichthyosis* ; Ichthyosis, Lamellar ; Jeollanam-do ; Mosaicism ; Scalp ; Siblings ; Skin ; Upper Extremity ; Wills

Twenty-three bacteriologically positive leprosy patients were randomly selected from a leprosarium, randomly divided into four treatment groups, and given vaying dosages of Isoprodian, the tablet contained INAH 175mg, Prothionamide 175mg and DDS 50 mg, for five months. Group I: Initial 1/2 tablet dose per week with 1/2 tablet increment every weeks until 12 tablets were being consumed w.
Humans ; Leprosy* ; Prothionamide ; Tablets

The year 1943 saw the introduction, by Mahoney and his associates, of penicillin treatment for syphilis. That period was an epic turning point in many respects, not least of which was the commencement of the antibiotic era in venereology. Frorn that point on, there were no antibiotics as effective, as cheap,or as low in toxicity as penir.illin, despite the discovery of a number of ather. a.ntibiotics. Also, na signs of resistance by Treponema pallidum t,o the antibiotic have yet been noted, although this possibility ha.a not bcen evaluated adequately. Sirice then Benzathine penicillin G, a long acting l3epo-penicillin, (discovered by Seifter, et al, in 1951), has been uti.lized for treating ayphilis. Aft.er the discovery of penicillin, syphilis began to decline. However, during the r.niddle 1950s the incidence of syphilis began to increa se throughout the world. In the 1960's, this rate of increase became quite pronounced. Thus, the present trend. is to treat most syphi]is with Benzathine penicillin Ci. However, occasional adverse reacf.ions, (e.g. hypersensitivity, anaphyIactic shack, phobia of injections and other untoward effects), sometimes render treatment with Renzathine Fenicillin G irnpossible. In such cases, treatment consists of the oral administration of Vibramycin' (Doxycycline to compensate for the defects of the penicillin. Although the previous alternatives have tra,ditionally been Tetracycline and Erythromyr,in, by utiIizing Vibramycin, we are a.41e to repozt the results comparing the effectiveness of Vibramycin with the effectiveness of Renza.cillin. The results focus on clini.cal irnprcivement and serological tests. Thirty five patients were treateif, with Vibramycin, but despite our requests, only ten patients participated in the foliowup study. among these ten patients, three patients were hypersensitive to penicillin. Forty nine patients were treated with Benzacillin, among which only thirteen patients responded to our follow-up studies. All members of the Benzacillin group were skin tested for penicillin hypersensitivity before treatment was initiated. The Vibramycin treatment regirnen was the oral administration of 200mg twice on the first day, and from the second day to the fourteenth day, 100mg twice daily. Three million units of Benzacillin were given .intra;nuscularly in weekly intervals for three weeks. The therapeutic results obtained were as follows: 1) The Vibramycin group showed remarkable clinical irnprovernent en the third day of treatment, with clinical manifestations completely disappearing en the following days- Lymphangitis dorsalis penis, sixth day of treatment; headache ninth day' maculopapulo-squamous syphilids, eleventh day; condyloma lata, fourteenth day' primary chancre, tenth day after finishing treatrnent. However, regional lymphadenopathies persisted for over four and a half months. 2) In most patients, serological follow-up studies, (VDRL slide test, and Wasserrnann complement fixation test), revealed declining titers one month after concluding treatment. These titers continued to decline in the following months. One case of sero-relapse, howe ver, was shown in both the Vibramycin group and the Benzacillin group. R) No cases of side effects were observed in either treatrnent group. 4) It is concluded from this study that nine of ten patients (90%) in the Uibramycin group, and twelve of thirteen patients (92. 3 %) in the Benzacillin group showed serological improvement. Thus, in those instances where penicillin is contraindicated, (e.g. hypersensitivity, anaphylactic shock, etc.), Vibramycin (Doxycycline) appears to be one of the most valuable treatment alternatives available.
Administration, Oral ; Anaphylaxis ; Anti-Bacterial Agents ; Chancre ; Complement System Proteins ; Doxycycline* ; Follow-Up Studies ; Headache ; Humans ; Hypersensitivity ; Incidence ; Lymphangitis ; Male ; Penicillin G Benzathine ; Penicillins ; Penis ; Phobic Disorders ; Serologic Tests ; Skin Tests ; Syphilis* ; Syphilis, Cutaneous ; Tetracycline ; Treponema pallidum ; Venereology

A 36-year-old rnarried man showed an irregularly shaped, brownish red, relatively well dernarcated and not indurated. ulcer margin with moderately uneven yellowish base on his glan penis, which had begun as erythematous macules ahout 4 nonths prior to consultation. No discomfort was associated with the ulcer. With the aid of clinicopthological a.nd histopathological studies, the authors diagnosed this skin disease as Lupus Vulgaris. Both the literature and clinical obserbation identify the face as the site of predilection for Lupus Vulgaris. Because of this patient's remarkable site of presentation, a review of the litrature is presented along with the case report.
Adult ; Humans ; Lupus Vulgaris* ; Male ; Penis* ; Skin Diseases ; Ulcer

It is well known that leprosy bacilli have a special affinity for peripheral nerves, especially Schwann cells but also including perineurial cells and endothelial cells of endoneurial blood vessels. The Schwann cells, after invasion by and saturation with multiplied M. leprae, are destroyed and segmental demyelination and Wallerian degeneration follow. This condition, then is known to be the main neural pathogenosis in early leprosy. It is rarely observed that the progressive paralysis occurs in arrested leprosy patients under adequate treatment. Therefore, the authors performed a histopathologic study of 80 peripheral nerves obtained from the autopsies of 10 old lepromatous leprosy patients including two active cases whose disease durations ranged from 6 to 49 years. The authors arbitrarily divided all the histopathologic findings into 5 grades on the basis of 1) difference in pathological findings in relation to disease duration and bacterial index, and 2) the coexistence of various lesions within the same nerve trunk. As the disease progresses the destroyed nerve fibers are replaced by fibrous and granulation tissue while the perineurial reaction increases. The cellular reaction is minimal in the low grades. There is a slightly early increased vasculature probably due to M. leprae and later a more pronounced increase with large vessels indicating the presence of the granulation process. There is minimum to moderate interfascicular reaction throughout every grade, ie. increased cellularity, vessel wall thickening and increased numbers of vessels with fibrosis. Acid-fast bacilli were demonstrated only in the active cases. The coexistence of different fascicular lesions within the same nerve trunk of peripheral nerve and of femoral nerves mear the spinal cord indicates the presence of some perineurial inhibitory effect which, while promoting the centripetal spread of, prevents the transfascicular spread of M. leprae for some time.
Autopsy ; Blood Vessels ; Demyelinating Diseases ; Endothelial Cells ; Femoral Nerve ; Fibrosis ; Granulation Tissue ; Humans ; Leprosy* ; Leprosy, Lepromatous ; Nerve Fibers ; Paralysis ; Peripheral Nerves* ; Schwann Cells ; Spinal Cord ; Wallerian Degeneration