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이시현 ( See Hyun Lee ),안지영 ( Ji Young Ahn ),박미연 ( Mi Youn Park ) 대한피부과학회 2011 대한피부과학회지 Vol.49 No.11
Confluent and reticulated papillomatosis (CRP) was first described as a relatively rare dermatosis. CRP is characterized by slightly hyperkeratotic pigmented papules that are confluent in the center and reticulated at the periphery, located on the neck, abdomen, intermammary, and interscapular regions. Histopathologically, lesions typically reveal orthohyperkeratosis, papillomatosis, and focal acanthosis. A 20-year-old man presented with a 2-year history of slightly pruritic lesions on the chest, abdomen, back, and upper extremities. The lesions were brownish papules and plaques in a reticulated and coalescing pattern. Histologically, a basket-weave pattern of orthohyperkeratosis and mild acanthosis were seen. However, there was no significant papillomatosis, even in multiple sections. Periodic acid Schiff stain was negative for fungi. The patient was treated with doxycycline, 200 mg daily, for 4 weeks. The lesions completely resolved and did not recur during 12 months of follow-up. We report a rare case of CRP without papillomatosis. (Korean J Dermatol 2011;49(11):1010∼1013)
이시현 ( See Hyun Lee ),안지영 ( Ji Young Ahn ),박미연 ( Mi Youn Park ) 대한피부과학회 2012 대한피부과학회지 Vol.50 No.5
Fibroepithelioma of Pinkus is generally accepted as a low-risk variant of basal cell carcinoma. A 66-year-old man was presented with a solitary dark red nodule with superficial erosion on his right groin. It tended to bleed, but was otherwise asymptomatic. Histopathologically, the tumor was composed of long, thin, branching and anastomosing strands of basaloid cells, which extends from the epidermis into the fibromucinous stroma. Basaloid tumor cells were palisaded at the periphery of the strands, and small buds were seen projecting from the epithelial strands. Significant amounts of melanin pigment were deposited in the papillary and reticular dermis, and the stroma between the tumor cords and also inside the tumor cells. The lesion was completely excised with clear margin. We report a case of pigmented fibroepithelioma of Pinkus with review of the literature in this communication. (Korean J Dermatol 2012;50(5):460∼463)
이시현 ( See Hyun Lee ),최연진 ( Yeon Jin Choi ),안지영 ( Ji Young Ahn ),박미연 ( Mi Youn Park ) 대한피부과학회 2010 大韓皮膚科學會誌 Vol.48 No.12
Trichilemmoma is a benign, solitary, small tumor that might often be misdiagnosed as a basal cell carcinoma or verruca. It is usually seen on the face, and especially on the nose and cheeks. A 79-year-old Korean man presented with a 2.0×2.0 cm-sized nodular mass on his right shoulder and the lesion was histopathologically diagnosed as a trichilemmoma. The atypical clinical appearance and localization of his neoplasm did not help us diagnose the lesion, and the histological findings were the only clues for making the diagnosis of trichilemmoma. (Korean J Dermatol 2010;48(12):1125∼1127)
이정연 ( Jung Yeon Lee ),김민수 ( Min Soo Kim ),이시현 ( See Hyun Lee ),김현수 ( Hyun Soo Kim ),안지영 ( Ji Young Ahn ),박미연 ( Mi Youn Park ) 대한피부과학회 2011 대한피부과학회지 Vol.49 No.1
Malignant syphilis (also known as lues maligna) is a rare dermatologic manifestation of syphilis and this is more commonly seen in patients with human immunodeficiency virus (HIV) infection. A 40-year-old man presented with general malaise and widespread cutaneous noduloulcerative lesions covered with lamellar crusts for 15 days. He had been diagnosed with HIV infection 6 years earlier, but had not regularly taken antiretroviral drugs. The syphilis serology showed a VDRL (venereal disease research laboratory) titer of 1:256 and a positive TPPA (treponema pallidum particle agglutination test) at presentation. Histologic exam showed the dense perivascular inflammatory infiltrates composed of lymphocytes, histiocysts and neurophils with some plasma cells in the underlying upper and reticular dermis. Obliterated blood vessels with eosinophilic materials were observed as an unusual histologic feature of syphilis. Based on the clinical, histological and serological findings, a diagnosis of malignant syphilis accompanied by acquired immune deficiency syndrome (AIDS) was made. The patient was treated with intramuscular benzathine penicillin G at 2.4 million units per week for 3 weeks, and the skin lesions completely healed with post-inflammatory hyperpigmentation. It is necessary to take into account this entity among the possible diagnoses in HIV-infected patients with cutaneous noduloulcerative lesions. (Korean J Dermatol 2011;49(1):68~71)
Park, Boyoung,Sohn, Ji Yeon,Yoon, Kyong-Ah,Lee, Keun Seok,Cho, Eun Hae,Lim, Myong Cheol,Yang, Moon Jung,Park, Soo Jin,Lee, Moo Hyun,Lee, See youn,Chang, Yoon Jung,Lee, Dong Ock,Kong, Sun-Young,Lee, Eu Springer US 2017 Breast cancer research and treatment Vol.163 No.1
<P><B>Purpose</B></P><P>We investigated the prevalence of <I>BRCA1/2</I> small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic.</P><P><B>Methods</B></P><P>In total 478 patients were assessed for <I>BRCA1/2</I> mutations by direct sequencing, of whom, 306 were identified as non-carriers of <I>BRCA1/2</I> mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics of patients were evaluated.</P><P><B>Results</B></P><P>Sixty-three mutation carriers (13.2%) were identified with <I>BRCA1</I> mutations (6.3%) and <I>BRCA2</I> mutations (6.9%), respectively. Mutation frequency was affected by familial and personal factors. Breast cancer patients with family history of breast and ovarian cancer showed the highest prevalence of <I>BRCA1/2</I> mutations (67%), and triple-negative breast cancer (TNBC) patients showed high <I>BRCA1</I> mutation prevalence (25%). The three probands of <I>BRCA1</I> deletion (1%) represented both familial risk and personal or clinicopathological risk factors as two with TNBC and one with bilateral ovarian cancer.</P><P><B>Discussion</B></P><P>This is the largest study assessing large genomic rearrangement prevalence in Korea and <I>BRCA1</I> deletion frequency was low as 1% in patients without <I>BRCA1/2</I> small mutations. For clinical utility of large genomic rearrangement testing needs further study.</P>