Identification of UVB Effects on Gene Expressed by Normal Human Melanocytes / 대한피부과학회지

BACKGROUND: Irradiation of the skin with ultraviolet rays result in alterations of immune response as well as melanogenesis and melanocarcinogenensis. These effects are largely mediated by soluble mediators released from epidermal cells in response to ultraviolet rays. OBJECTIVE: To evaluate the effect of ultraviolet B (UVB) irradiation on the normal human melanocyte gene expression. METHODS: We demonstrated genes modulated by UVB irradiation among over 300 genes coding CDs, cytokins, growth factors, and growth factor receptors in normal human melanocytes by cDNA microarray technique. RESULTS: Two genes out of 384 genes in cultured normal human melanocytes were found up-regulated following UVB irradiation. They are the genes coding lactotransferrin and CD160. Forty one genes out of 384 genes were found down-regulated by UVB irradiation. They included the genes coding IL-9, IL-5, TNF-alpha, TNF-beta, IL-6 receptor and CD20. CONCLUSION: These results provide the basis for future studies on the immunologic role in modulated genes by UV-stressed human melanocytes.

Incontinentia Pigmenti Associated with Congenital Heart Diseases

Incontinentia pigmenti(IP) is an X-linked dominantly inherited disorder with female predominance. Skin lesions are characterized by three or four stages; vesicobullous, verrucous, hyperpigmented and hypopigmented lesions. About 80% of patients with incontinentia pigmenti have one or more associated ectodermal or mesodermal anomalies involving teeth, nail, hair, eye, breast, bones and nervous system. A newborn girl had erythematous based vesicles and bullae on her trunk and extremities with peripheral eosinophilia. Within several days, she showed linear verrucous plaques. A skin biopsy specimen showed eosinophilic spongiosis in the epidermis and numerous eosinophils in the dermis. The diagnosis of IP was made. She was revealed to have some congenital heart anomalies; atrial septal defect (ASD) and patent ductus arteriosus(PDA). Cases of IP with congenital heart disease have been reported very rarely. Therefore, we report this unique case of IP associated with ASD and PDA.

A Case of Neurofibromatosis Associated with Moyamoya Disease

Neurofibromatosis produces a broad spectrum of clinical manifestations. Cafe-au-lait spots, cutaneous neurofibroma and tumors of the central and peripheral nervous system are well known manifestations. One of the more serious aspects of the disease relates to the arterial involvement. Renal arterial disease with resultant hypertension has been paticularly well documented. However, cerebrovascular lesions in neurofibromatosis are uncommon. Cerebral arterial occlusive diseases with juxtabasilar telangiectasia (moyamoya disease) associated with neurofibromatosis have been documented in about 40 patients in the world literature. We report a case of neurofibromatosis associated with the moyamoya disease.

A Case of Dermal Melanocytosis with Various Morphological Forms / 대한피부과학회지

Dermal melanocytosis is characterized by the presence of ectopic melanocytes in the dermis and shows several morphological forms, including the mongolian spot, the blue nevus, the nevus of Ota, the nevus of Ito, and dermal melanocyte hamartoma. A 30-month-old boy had a gray blue patch on the left deltoid region, upper back, sacral area, the entire length of the right arm, and right hand. There was a bluish speckled patch on the right palm. The lesions were present at birth, and no appreciable change in appearance had occurred. He also had blue to brownish pigmentation on the right side of his face with dark bluish pigmentation of the right sclera. His Mental and physical development had been normal. The histopathological examination revealed dendritic dermal melanocytes, mainly in the upper and mid dermis. Clinically and pathologically, the patient was diagnosed as having Ota nevus, Ito nevus, mongolian spot, and dermal melanocyte hamartoma. To our knowledge, dermal melanocytosis with 4 different morphological forms in a patient has not previously been reported. We report this unique case of dermal melanocytosis with various morphological forms.

The Effect of alpha-MSH on the Morphologic Changes, Survival, and Melanization of Cultured Human Melanocytes / 대한피부과학회지

BACKGROUND: The effects of melanocyte stimulating hormone(MSH) on the integument of many species, including mammals, are well known. The significance of MSH as a physiological regulator of cutaneous pigmentation in humans is still controversial. Although the administration of MSH results in skin darkening, previous reports suggest that cultured human melanocytes are relatively unresponsive to this peptide. This may be related to the conditions under which the melanocytes were cultured. OBJECTIVE: The purpose of this study was to investigate the effect of alpha-MSH on the morphological changes, survival, and melanization of cultured human melanocytes in a basal medium without any mitogen. METHOD: We examined the morphological changes, number and melanin contents of cultured human melanocytes in control(absence of alpha-MSH) and experimental groups(presence of 10(-8) M, 10(-7) M, and 10(-6) M alpha-MSH). RESULTS: 1. There were no significant morphological changes of cells between the control and experimental groups after 24, 48, and 72 hours' culture. The number and length of melanocyte dendrites showed no significant difference between the groups after 24, 48, and 72 hours' culture. 2. The number of melanocytes in the experimental groups(presence of 10(-7) M, and 10(-6) M alpha-MSH) were significantly higher than the number of melanocytes in control group after 72 hours culture(p<0.05). This effect of alpha-MSH was dose-related. 3. The melanin contents slightly increased in the experimental groups. The significant difference between the groups was showed in the presence of 10(-8) M alpha-MSH. CONCLUSIONS: alpha-MSH has no effect on the morphology, but increases the survival of cultured human melanocytes and has a melanogenic effect.

Trichorhinophalangeal Syndrome , Type I / 대한피부과학회지

Trichorhinophalangeal syndrome (TRPS) was first described in 1966 by Giedion. It is a rare genetic disease and divided into two groups : TRPS type I and TRPS type II. TRPS type I is an autosomal dominant inherited disorder, defined by three characteristic findings : first, sparsely distributed brittle and slow-growing scalp hair, second, a bulbous pear-shaped nose with an elongated philtrum, third brachydactyla with angular deformities. The characteristic radiological features of the hands include cone shaped epiphysis of the proximal interphalangeal joints. Most TRPS type II is sporadic and shows multiple exosteosis, mental retardation and microcephaly in addition to the three chracteristic findings of TRPS type I . A 20-year-old female visited our department for the evaluation of her sparse, slow-growing scalp hair. She also had a bulbous pearshaped nose, ulnar deviated fingers and shortened both hallux. Some relatives of patients show similar symptoms of scalp hair. A Radiologic aly, histopathologic aly and chromosomal study were done, and we established the diagnosis, TRPS type I.

MR Imaging Findings of Ring Apophyseal Fractures in Lumbar Vertebrae

PURPOSE: To assess the location and associated findings of fractures of the posterior lumbar vertebral ring apophysis as seen on MRI. MATERIALS AND METHODS: We retrospectively evaluated MR findings in 77 patients (86 lesions) with lumbar apophyseal ring fractures. Their age ranged from ten to 67 (mean 33-1) years. To confirm the presence of verterbral ring fractures, CT was performed in 29 patients (31 lesions) within two weeks of MR imaging. Open laminectomy was performed in ten patients, percutaneous automated nucleotomy in three, and LASER operation in four. RESULTS: The most common location of fractures was the superior margin of L5 (36 lesions 41.9%), next was superior margin of S1 (21 lesions, 24.4%). On CT, a bony fragment was seen in 28 patients (30 lesions); the positive predictive value of MR was 99.7 %. Multiple lesions were seen in nine patients. Associated disc herniation and bulging were noted in 64 (74.4%) and 15 lesions (17.4%), respectively, and a high signal intensity rim aound the bony fragment on T1 weighted image was noted in 33 (38.4%). Other associated findings were spondylolysis in eight patients, retrolisthesis in five, and spondylolisthesis in three. Operative outcomes were variable. The results of open laminectomy were better than those of percutaneous automated laminectomy or LASER operation. CONCLUSION: In patients with lumbar apophyseal ring fractures, their exact location and associated findings could be evalvated by MRI, which was therefore useful in the planning of appropriate surgery.

Cutaneous Ulcer Due to Candida Infection / 대한의진균학회지

Cutaneous ulcers due to candida infection are very rare condition, occurring almost in immunocompromised host or occurring as cutaneous manifestation of systemic candidal infection. A 52-year-old woman presented with cutaneous ulcer on dorsum of left hand which had lasted for about 15 days. Bacterial culture showed nonpathogenic organism, Enterobacter cloacae. Mycologic studies including KOH mount and fungus culture were positive for pseudohyphae and colonies of Candida species. A biopsy specimen from the center of ulcer revealed numerous spores and fungal hyphae in the upper dermis and necrotic epidermis. Bacterial culture and fungus culture of patient's serum and urine were negative. Initial treatment with antibiotics had no effectiveness for 2 weeks. After then we treated with antifungal drug, itraconazole 100mg/day. After 6 weeks of antifungal therapy, the skin lesion was much improved. We report this case, because it showed cutaneous ulcer due to candida infection but had neither systemic candidal infection nor clinical sign of immunosuppression.