• Clinical and Experimental Reproductive Medicine
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• v.50 no.3
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• pp.192-199
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• 2023

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.

• Animal Bioscience
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• v.36 no.9
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• pp.1367-1375
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• 2023

Objective: Pigment production and distribution are controlled through multiple proteins, resulting in different coat color phenotypes of sheep. Methods: The expression distribution of vimentin (VIM) and transthyretin (TTR) in white and black sheep skins was detected by liquid chromatography-electrospray ionization tandem MS (LC-ESI-MS/MS), gene ontology (GO) statistics, immunohistochemistry, Western blot, and quantitative real time polymerase chain reaction (qRT-PCR) to evaluate their role in the coat color formation of sheep. Results: LC-ESI-MS/MS results showed VIM and TTR proteins in white and black skin tissues of sheep. Meanwhile, GO functional annotation analysis suggested that VIM and TTR proteins were mainly concentrated in cellular components and biological process, respectively. Further research confirmed that VIM and TTR proteins were expressed at significantly higher levels in black sheep skins than in white sheep skins by Western blot, respectively. Immunohistochemistry notably detected VIM and TTR in hair follicle, dermal papilla, and outer root sheath of white and black sheep skins. qRT-PCR results also revealed that the expression of VIM and TTR mRNAs was higher in black sheep skins than in white sheep skins. Conclusion: The expression of VIM and TTR were higher in black sheep skins than in white sheep skins and the transcription and translation were unanimous in this study. VIM and TTR proteins were expressed in hair follicles of white and black sheep skins. These results suggested that VIM and TTR were involved in the coat color formation of sheep.

• Archives of Craniofacial Surgery
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• v.10 no.2
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• pp.135-137
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• 2009

Purpose: Nevus comedonicus is a rare disease involving abnormal development of the pilosebaceous unit, clinically appearing confluent clusters of open comedones. It is characterized by follicular epidermic invaginations filled with keratin, with atrophic pilose or sebaceous structures which are open to the lower pole of the invagination. We report a child with inflammatory pustules and cysts correlated to the nevus comedonicus. Methods: A 15-month-old girl was referred for treatment of a nevus comedonicus that has been developed since birth. There were periodic episodes of erythema and swelling of the plaque. The patient had treated previously with retinoid cream for 2 weeks without obvious benefit at dermatology clinic. We excised the nevus comedonicus with Y-shape leaving some lesions. Results: When we incised skin, we could see multiple large whitish cysts beneath the nevus comedonicus. Histopathologic findings showed deep invagination of epidermis filled with keratin plugs, keratinous cyst in the dermis, rudimentary hair follicle. Conclusion: We treated rare nevus comedonicus with multiple large cysts as surgical excision.

• BMB Reports
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• v.48 no.1
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• pp.19-24
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• 2015

A mouse homozygous for the spontaneous mutation uncovered (Uncv) has a hairless phenotype. A 309-bp non-frameshift deletion mutation in the N-terminal cytoplasmic domain of iRhom2 was identified in Uncv mice ($iRhom2^{Uncv}$) using target region sequencing. The detailed molecular basis for how the iRhom2 mutation causes the hairless phenotype observed in the homozygous $iRhom2^{Uncv}$ mouse remains unknown. To identify differentially expressed proteins in the skin of wild-type and homozygous $iRhom2^{Uncv}$ littermates at postnatal day 5, proteomic approaches, including two-dimensional gel electrophoresis and mass spectrometry were used. Twelve proteins were differentially expressed in the skin in a comparison between wild-type and homozygous $iRhom2^{Uncv}$ mice. A selection of the proteomic results were tested and verified using qRT-PCR, western blot and immunohistochemistry. These data indicate that differentially expressed proteins, especially KRT73, MEMO1 and Coro-1, might participate in the mechanism by which iRhom2 regulates the development of murine skin.

• Korean Journal of Head & Neck Oncology
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• v.20 no.1
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• pp.62-66
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• 2004

Pilomatricoma is a benign neoplasm of the hair follicle origin which most common occur in the head and neck, particularly in the cheek and preauricular region. This neoplasm is superficially located and stony, hard consistency on palpation and sometimes shows reddish or bluish discoloration on the overlying skin. The diagnosis is confirmed by histopathologic examination. Radiologic evaluation is little diagnostic and fine needle aspiration biopsy often misdiagnose because both tissues from basaloid cell component and shadow cell component should be obtained for correct diagnosis. And Otolaryngologist should consider the possibility of philomatricoma when childhood or early adulthood persion visits with hard, supferficial mass on the parotid or cheek area. The treatment of choice is surgical excision with clear resection margin. In many instances, overlying skin excision is needed. We report 4 cases of philomatricoma arising from preauricular, cheek and posterior neck.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.32 no.6
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• pp.582-587
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• 2010

Pilomatricoma or calcifying epithelioma is a benign tumor of hair follicle origin. Pilomatricoma presents a slowly enlarged and asymptomatic mass that located dermal or subdermal area. It showed mostly on face and upper limb and head and neck represents 50% of all case. And it developed almostly in the first 2 decade of life. Histologically, encapsulated mass composed of solid small basophilic cells and eosinophilic ghost cells. Surgical excision is the treatment choice and rarely recurs. The purpose of this article is to represent of pilomatricoma on subauricular region that treated with mass excision and local transpositional flap. Althrough the presurgical diagnosis of pilomatricoma may be difficult, clinicians must keep in mind the differential of head and neck masses that located subdermal layers.

• Korean Journal of Head & Neck Oncology
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• v.32 no.1
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• pp.37-40
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• 2016

The pilomatricoma is a benign skin neoplasm arising from hair follicle matrix cells, and it comprises approximately 0.12% of all benign skin tumors. It occurs most commonly in head and neck. It usually tends to occur in childhood or school-age. Mainly, it exists in single subcutaneous or intradermal nodule and grows very slowly. The diagnosis is confirmed by histopathologic examination. Histopathologically, it is characterized by basaloid cells, enucleated shadow cells and calcifications in the shadow cell. However, it is rare to present extensive ossification in pilomatricoma. The treatment of choice is wide local excision. A 66-year-old man came to our clinic and he complained of two masses on right parotid tail and posterior neck. We performed excisional biopsy on posterior neck and partial parotidectomy. The pathology of former was pilomatricoma with extensive ossification. We report a rare unique case of pilomatricoma with brief review of literature.

• Biomolecules & Therapeutics
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• v.26 no.2
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• pp.182-190
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• 2018

The objective of this work is to evaluate the effect of polyamidoamine (PAMAM) dendrimers on electroosmotic flow (EOF) through skin. The effect of size and concentration of dendrimer was studied, using generation 1, 4 and 7 dendrimer (G1, G4 and G7, respectively). As a marker molecule for the direction and magnitude of EOF, a neutral molecule, acetoaminophen (AAP) was used. The visualization of dendrimer permeation into the current conducting pore (CCP) of skin was made using G4-fluorescein isothiocyanate (FITC) conjugate and confocal microscopy. Without dendrimer, anodal flux of AAP was much higher than cathodal or passive flux. When G1 dendrimer was added, anodal flux decreased, presumably due to the decrease in EOF by the association of G1 dendrimer with net negative charge in CCP. As the generation increased, larger decrease in anodal flux was observed, and the direction of EOF was reversed. Small amount of methanol used for the preparation of dendrimer solution also contributed to the decrease in anodal flux of AAP. Cross-sectional view perpendicular to the skin surface by confocal laser scanning microscope (CLSM) study showed that G4 dendrimer-FITC conjugate (G4-FITC) can penetrate into the viable epidermis and dermis under anodal current. The permeation route seemed to be localized on hair follicle region. These results suggest that PAMAM dendrimers can permeate into CCP and change the magnitude and direction of EOF. Overall, we obtained a better understanding on the mechanistic insights into the electroosmosis phenomena and its role on flux during iontophoresis.

• Archives of Craniofacial Surgery
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• v.21 no.3
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• pp.202-205
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• 2020

Trichoepithelioma is a benign hair follicle tumor that can undergo malignant transformation into basal cell carcinoma in rare cases. Due to the similar clinical and histological features of trichoepithelioma and basal cell carcinoma, distinguishing between these types of tumors can be a diagnostic challenge. Punch biopsy obtains only a small sample of the entire lesion, and thus inherently involves a risk of misdiagnosis between histologically similar diseases. Therefore, if the possibility of misdiagnosis can reasonably be suspected, clinicians should conduct an excisional biopsy or immunohistochemical staining (e.g., CD10 and Bcl-2) to ensure an exact diagnosis. Although trichoepithelioma is benign, the surgical excision of solitary trichoepithelioma should be considered in order to avoid the possibility of malignant transformation, which has occasionally been documented for multiple familial trichoepitheliomas. Herein, we report a case that was initially misdiagnosed as trichoepithelioma before ultimately being diagnosed as basal cell carcinoma through excision and immunohistochemical staining.

• Journal of Physiology & Pathology in Korean Medicine
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• v.33 no.1
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• pp.63-67
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• 2019

Interaction between epidermis and dermis plays an important role in wound healing and hair follicle formation. This study focused on investigating the potency of ethanol extract of Puerariae Radix (EPR) as cosmetic ingredient using human dermal fibroblasts (hDFn). Our results revealed that EPR suppressed collagenase activity dose-dependently. EPR inhibited activity of $5{\alpha}$-reductase I and II at the final concentration of $25{\mu}g/ml$ in hDFn cells. Also, EPR promoted the proliferation and the ERK activation of cells. ERK phosphorylation by EPR was blocked by specific inhibitor of ERK, PD98059. EPR-induced cell proliferation was blocked by PD98059. This means that EPR could promote the proliferation of hDFn cells via the activation ERK. Collectively, these results suggest that EPR may be used as a new cosmetic ingredient.