Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear. We report a case of OS in a 3-year-old Korean girl and its underlying gene mutation. The patient presented with a disabling, bilateral palmoplantar keratoderma with onychodystrophy. She also exhibited pruritic eczematous skin lesions around her eyes, ears and gluteal fold. Genetic analysis identified a heterozygous p.Gly568Val missense mutation in the exon 13 of TRPV3. To our knowledge, this is the first case of OS in the Korean population showing a missense mutation p.Gly573Ser.
Abnormalities, Multiple/*genetics ; Base Sequence ; Child, Preschool ; Female ; Heterozygote ; Humans ; Keratoderma, Palmoplantar/genetics ; Lipid Droplets/ultrastructure ; Mutation, Missense/*genetics ; Skin/pathology/ultrastructure ; Syndrome ; TRPV Cation Channels/*genetics

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of cutaneous lymphoma. There have been a few case reports describing the radiologic imaging findings of SPTCL. We report a case of SPTCL, rarely presented with a breast mass. Here, we review her clinical history and radiologic (mammography and ultrasound) findings.
Adult ; Breast Neoplasms/*pathology/radiography/ultrasonography ; Female ; Humans ; Lymphoma, T-Cell/*pathology/radiography/ultrasonography ; Mammography ; Panniculitis/*pathology/radiography/ultrasonography ; Rare Diseases/*pathology/radiography/ultrasonography ; Skin Neoplasms/*pathology/radiography/ultrastructure

Animals ; Bone Matrix ; pathology ; Bone and Bones ; pathology ; Collagen Type I ; metabolism ; Collagen Type III ; metabolism ; Disease Models, Animal ; Humans ; Muscle, Skeletal ; metabolism ; pathology ; Osteoblasts ; pathology ; ultrastructure ; Osteoclasts ; pathology ; Osteocytes ; pathology ; Osteogenesis Imperfecta ; classification ; metabolism ; pathology ; Skin ; pathology

OBJECTIVE: To explore the relationship between melanin synthesis and the congenital high myopia of albino guinea-pigs. METHODS: Twelve albino guinea-pigs and 12 pigmented guinea-pigs of 220~250 grams (aged 5~6 weeks) were chosen at random. The eyes were examined with retinoscopy, A-scan ultrasonography and vernier caliper. The retinal structures were examined with light and electronic microscope. RESULTS: The diopter was -19.17 D in albino guinea-pigs and +0.63 D in pigmented guinea-pigs on average. Compared with the pigmented guinea-pigs, the axial dimensions of the albino guinea-pigs were elongated. There was significant difference between the albino guinea-pigs and the pigmented guinea-pigs. The retinal thickness, pigment granules and membrane disc of the outer segment of the visual cells decreased in the albino guinea-pigs, and the membrane disc space became narrow. The normal retinal thickness, plenty of pigment granules , membrane disc and wide membrane disc space could be observed in the pigmented guinea-pigs. CONCLUSION Albino guinea-pigs have high myopia, and pigmented guinea pigs have light hyperopia. There are structural differences in the retina between albino guinea-pigs and pigmented guinea-pigs. The abnormity of albino guinea-pigs provides optical foundation for its high myopia.
Albinism ; complications ; Animals ; Guinea Pigs ; Melanins ; biosynthesis ; Microscopy, Electron, Scanning ; Myopia ; congenital ; etiology ; metabolism ; Random Allocation ; Retina ; metabolism ; pathology ; ultrastructure ; Skin Pigmentation

OBJECTIVETo study the effect of Jingjielianqiao Decoction in promoting leg ulcer in rabbits.

METHODSNine adult male New Zealand albino rabbits with chronic leg ulcers were randomized into 3 groups, namely group A treated with Jingjielianqiao Decoction, group B with Shengjiyuhong Decoction, and group C with normal saline. Gross observation of the wounds was carried out regularly for evaluating the changes in the ulcerous area, depth and wound surface excretion. After 3 weeks of treatment, the tissues on the edge of the ulcer were sampled and prepared for routine pathological examination, electron microscopy and immunohistochemistry for vascular endothelial growth factor (VEGF) and CD34. The number of blood vessels and their areas were also recorded.

RESULTSThe wounds showed no significant differences between the 3 groups by gross observation during the treatment, but after completion of the 3-week treatment, routine pathological examination and electron microscopy revealed significant differences between the groups. Immunohistochemistry for VEGF and CD34 yielded comparable results between groups A and B (positive control), but showed significant differences between group C and the other two groups (P<0.01).

CONCLUSIONJingjielianqiao Decoction and Shengjiyuhong Decoction can obviously promote the healing of leg ulcer in rabbits.

Animals ; Antigens, CD34 ; analysis ; Drugs, Chinese Herbal ; therapeutic use ; Immunohistochemistry ; Leg Ulcer ; drug therapy ; metabolism ; pathology ; Male ; Microscopy, Electron ; Phytotherapy ; Rabbits ; Random Allocation ; Skin ; drug effects ; pathology ; ultrastructure ; Vascular Endothelial Growth Factor A ; analysis ; Wound Healing ; drug effects

OBJECTIVETo study the expression of alpha5beta1 integrin in the abnormal scars and its role and significance in the formation and development of abnormal scars.

METHODSThe expression of alpha5beta1 integrin was observed in hypertrophic scar (15 samples), keloid (15 samples) and normal skin (10 samples) with SP immunohistochemical method and colloidal gold immuno-electron microscopic technique. The data were semi-quantitatively analyzed.

RESULTSThe expression levels of alpha5beta1 integrin in the fibroblasts of keloids and hypertrophic scars were higher than normal skin; the expression of alpha5beta1 integrin in the fibroblasts of keloids was higher than hypertrophic scars (P < 0.01).

CONCLUSIONThe alpha5beta1 integrin appears to have close relation to the formation and development of abnormal scars. To find a way to decrease the expression level of alpha5beta1 integrin in fibroblasts may be a new approach to inhibit scar hypertrophy.

Cicatrix ; metabolism ; pathology ; Humans ; Immunohistochemistry ; Integrin alpha5beta1 ; analysis ; metabolism ; Keloid ; metabolism ; pathology ; Microscopy, Immunoelectron ; Skin ; chemistry ; pathology ; ultrastructure

OBJECTIVETo evaluate the cutaneous histological and ultrastructural changes of dogs following hair removal by Alexandrite laser.

METHODSSeven healthy dogs with dark hair were treated for hair removal with the Alexandrite laser and skin biopsies were taken after 0.5 h, 2, 3, 5, 10, and 30 days. Specimens were examined with light microscopy and transmission electron microscopy.

RESULTLaser-treated specimens showed widespread coagulation and charring subcutaneous hair shafts. These obviously damaged follicles were randomly dispersed among intact follicles within the same treatment sites. Microscopic changes were also seen in the basal epidermis where melanin was concentrated. A low level of inflammatory response was seen up to 10 days followed laser treatment. The efficiency in higher fluence test area was better than the lower one; the degree of damaged follicles with double pulse was similar to that with single pulse.

CONCLUSIONAlexandrite laser irradiation results in selective damage to follicles and microscopic changes in the basal epidermis. Alexandrite laser hair removal does not lead to scar formation; the efficiency of laser hair removal is fluence-depent; the degree of damaged follicles with double pulse is not different with single one; the cooled hand piece can minimize epidermal injury.

Animals ; Dogs ; Hair Removal ; methods ; Laser Therapy ; Microscopy, Electron ; Skin ; pathology ; ultrastructure

OBJECTIVETo investigate injury to epidermal melanocyte by Q-switched Alexandrite laser.

METHODSMultiple biopsies were performed on 5 patients with nevus of Ota from before irradiation to 1 year after irradiation. Fourteen specimens were obtained for light microscopy, and 17 for transmission electron microscopy.

RESULTSMelanosomes in epidermal melanocytes were both smaller in size and fewer in number than those in dermal melanocytes. Immediately after irradiation, focal extracellular vacuoles of the basal layer could be observed under light microscopy. Most epidermal melanocytes underwent mild or moderate injury in the form of vacuolated melanosomes, swollen mitochondria, dilation of endoplasmic reticulum, and expansion of extracellular space, retaining intact cell membranes. Normal structures were restored 5 months to 1 year after irradiation, with no depigmentation or hyperpigmentation as seen by light microscopy.

CONCLUSIONInjury of melanosomes in epidermal melanocytes is reversible.

Adolescent ; Adult ; Beryllium ; therapeutic use ; Female ; Humans ; Laser Therapy ; Lasers ; adverse effects ; Melanocytes ; radiation effects ; Microscopy, Electron ; Nevus of Ota ; pathology ; radiotherapy ; ultrastructure ; Skin Neoplasms ; pathology ; radiotherapy ; ultrastructure

OBJECTIVETo observe the injury on micro-skin induced by a self designed micro-skin machine.

METHODSMicro-skin was produced either with the machine or by hand. Cells at the edge of micro-skin were observed by transmission electron microscope. succinic dehydrogenase activity in supernatant of cultivated cells was analyzed, and the cell proliferation of micro-skin was assessed by (3)H-TdR. Twenty patients were enrolled in the study for the observation of the wound healing time between the two groups of micro-skin after being grafted.

RESULTSTransmission electron microscope examination revealed that the cellular injury at the edge of the micro-skin in machine-made group was mild compared with that in man-made group. (3)H-TdR rate was elevated but the activity of succinic dehydrogenase in the supernatant of cultured cells decreased in supernatant of cultured cells of machine produced micro-skin. Wound healing time was shortened in machine made group. (P < 0.05).

CONCLUSIONThe cellular injury at the edge of micro-skin in the machine made group was mild when compared with that in the man-made group with cell proliferation accelerated and wound healing time shortened.

Burns ; surgery ; Cell Division ; Epithelium ; pathology ; Humans ; Microscopy, Electron ; Skin ; ultrastructure ; Skin Transplantation ; methods ; Wound Healing

We report a case of infantile myofibromatosis in a male infant with involvement of the lungs and subcutaneous tissue. We studied our case by light microscopy, immunohistochemistry and electron microscopy. The results reveal that this entity is of a myofibroblastic nature. We reviewed 165 cases including our case. We believe this is the first report in Korea of infantile myofibromatosis with pulmonary involvement.
Case Report ; Human ; Infant, Newborn ; Leiomyoma/*pathology/ultrastructure ; Lung Neoplasms/*pathology/ultrastructure ; Male ; Microscopy, Electron/methods ; Prognosis ; Skin Neoplasms/*pathology/ultrastructure