Multiple neurilerv,omas occurred i.n a 14-year-old boy with neurofibromatosis and right eye blindness. His father succumbed to neurofibromatosis at the age of 42. Histologically-proved neurilemornas and neurofibromas were noted on the face, neck, trunk and extremities, but no cafe au-Iait spots ohserved. There were nevus anemicus, hairy nevus and pigmented moles. The associated features in this patient includc muscular atrophies, weakness of the left hand, parest,hesia of the medial side of left forcarm and Dupuytrens contracture of left fourth finger.
Adolescent ; Blindness ; Dupuytren Contracture ; Extremities ; Fathers ; Fingers ; Hand ; Humans ; Male ; Muscular Atrophy ; Neck ; Neurilemmoma* ; Neurofibroma ; Neurofibromatoses* ; Nevus ; Nevus, Pigmented

A case of pachyonychia congcnita occurring in a 8 year-old boy is described. A few weeks after delivery, his mother noticed thickening of all the finger and toe nails of her baby. Family history was denied. In addition to characteristic features of pachyonychia congenita of all the nails, follicular keratotic papules were noted on the knees, elbows, buttocks and legs, and also tender thick calluses, on the soles with palnioplantar hyperhidrosis. There were three cornu cutaneurn on the popliteal and left antecubital fossae. Other associated fea.tures include a painful tense bulla at the left fourth finger, irnpetiginous patches on the anterior thighs, hoarseness and leukokeratosis linguae, sparseness of the scalp hairs, and granulosis rubra nasi accompanied by facial hyperhidrosis.
Bony Callus ; Buttocks ; Child ; Elbow ; Fingers ; Hair ; Hoarseness ; Humans ; Hyperhidrosis ; Knee ; Leg ; Leukoplakia ; Male ; Mothers ; Nails, Malformed* ; Pachyonychia Congenita* ; Scalp ; Thigh ; Toes ; Transcutaneous Electric Nerve Stimulation

No abstract available.
Neurofibromatoses*

Fourteen cases of porokeratosis were studied clinically. There were four clinical types consisting of classical plaque type(Mibelli), superficial disseminated eruptive form of Respighi (SDE type) and linear type, each in 3 cases, and disseminated superficial actinic porokeratosis (DSAP) in 5 cases. The Mibelli and linear type of the disease appeared in the early teens but other two showed late onset of second to third decade. All cases of SDE type occurred in males and most cases of Mibelli and DSAP type in females. Five cases of DSAP were apparently associated with sun-exposure. The disease process of case 6 (SDE type) seemed to be related to metastatic adenocarcinoma of the brain. The family occurrence of porokeratosis was found in 2 cases of SDE typc and 3 of five cases of DSAP type. They were transrnitted as an autosomal dominant trait. The linear type oppears to be distinct variety from the early appearance of lesions in linear fashion over the lower extremity. The histological features were essentially the same including the typical cornoid lamella, but the features in types other than classical plaque were often minimal, No effective mode of therapy has been found.
Adenocarcinoma ; Adolescent ; Brain ; Female ; Humans ; Lower Extremity ; Male ; Porokeratosis*

1. Sixty five cases of the tumors in the eye and adnexa(one to 78 old age) were observed at the National Medical Center in Korea, between 1959 and 1961. Those are analyzed and studied from the clinical view point. 2. Fifty-two tumor cases were primary and thirteen cases were secondary. The most frequent malignant tumor was retinoblastoma(15 cases) in childhood group and cancers(11 cases) in older age group. The malignant melanoma case(1 case) was definitely few in number. 3. The most frequent origin was the eye ball(19 cases) and next the lid(12 cases). The secondary tumors camed mostly from paranasal sinuses(12 cases). 4. Among the clinical diagnostic methods, it is revealed that the X-ray tomography with air insufflation into the orbit was most reliable. 5. The visual disturbance, exophthalmos, displacement of the eye, and impaired ocular movement were the most frequently seen as the clinical symptoms and of value for diagnosis.
Diagnosis ; Exophthalmos ; Humans ; Insufflation ; Korea ; Melanoma ; Orbit ; Tomography, X-Ray

1. 110 cases of optic atrophy from 7 months to 67 years old, 82 bilateral with 28 unilateral involvement observed at the National Medical Center in Korea Between 1959 and 1961 were analyzed for etiologic factors which were which were also based on a a review of literature. 2. Of the 110 cases, the largest single cause of optic atrophy af all type was brain tumor(18 cases, 16.4%) with exogenous poisoning(11 cases, 10%) second in frequency. 3. Cases of atrophy due to tuberculous meningitis(10 cases, 9.1%) were found in the age group of one to 15 years as the most frequent cause in childhood. 4. The retrobulbar neuritis was one of the most frequent causes(9 cases, 8.2%) in the adult. Also the traumatism(8 cases, 7.3%) as to the prevalent acuses of post-war blindness. 5. A characteristically low incidence of syphilis (4 cases, 3.6% without congenital syphilis) as the cause of the optic atrophy is one of the subject to be evaluated in the future.
Adult ; Aged ; Atrophy ; Blindness ; Brain ; Humans ; Incidence ; Korea ; Optic Atrophy* ; Optic Neuritis ; Syphilis

BACKGROUND: To investigate the upper airway changes in obstructive sleep apnea-hypopnea syndrome (OSAHS) patients, we measured cross-sectional areas of the upper airway [retropalatine (RP) and restoglossal (RG) regions] and volumes of upper airway structures on upper airway MRI in OSAHS patients and normal controls. METHODS: The Apnea/Hypopnea index (AHI) of OSAHS patients was calculated by overnight polysomnography whereas apnea-hypopnea screening for normal controls was performed by a portable screening device. Upper airway MR images were obtained in normal subjects and OSAHS patients using a 1.5-T MRI scanner. The following parameters were measured on MRI using Analyze 6.0 software: (1) mean area, minimal area, vertical and horizontal lengths of the minimal area in RP and RG region; (2) volumes of RP and RG airway, soft palate, lateral pharyngeal wall, lateral pharyngeal fat pad and tongue. RESULTS: Nineteen OSAHS patients and 14 normal controls were included. Body mass index (BMI) and AHI were significantly higher in OSAS (BMI 27.7+/-2.5, AHI 56.8+/-22.3) than normal controls (BMI 23.0+/-1.9, AHI 3.5+/-2.1). OSAHS group had significantly smaller mean RP and RG area, smallest area in RP and RG regions and horizontal length of smallest area in RP and RG regions. The volumes of soft palate and lateral pharyngeal wall were larger in the OSAHS group. CONCLUSIONS: Korean OSAHS patients had smaller mean RP and RG area, minimal RP and RG area and horizontal length in minimal RP and RG region and larger volume of soft palate and lateral pharyngeal wall than normal controls.
Adipose Tissue ; Body Mass Index ; Humans ; Magnetic Resonance Imaging* ; Mass Screening ; Palate, Soft ; Polysomnography ; Sleep Apnea, Obstructive ; Tongue