A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature

Rubinstein-Taybi syndrome (RSTS) is an extremely rare genetic disorder affecting multi-organ systems. A tendency to form keloid is one of the common dermatologic manifestations.We describe a 23-year-old female presented with extensive keloids which developed spontaneously. She had typical facial features, broad thumbs, and dental defects, which were suspicious features of genetic syndrome. Direct sequencing for cyclic-AMP-regulated enhancer binding protein revealed a novel mutation. So far, 23 cases of RSTS have been reported in Korean literature. To the best of our knowledge, this is the first report in Korea to describe confirmed case of RSTS with extensive keloids as a chief manifestation.

Prognostic outcome of treatment modalities for epidermal growth factor receptor-mutated advanced lung cancer

Background/Aims@#The treatment of epidermal growth factor receptor (EGFR)-mutated lung cancer cases has shown remarkable development in the past two decades. However, there have been limited studies comparing the prognostic effects of EGFR-tyrosine kinase inhibitor (TKI) and other treatment modalities. Therefore, we compared the survival outcomes of patients treated with EGFR-TKIs versus those treated with other treatment modalities. @*Methods@#Patient data were collected from the Korean National Health Insurance Database, National Health Insurance Service- National Sample Cohort 2002 to 2015, which was released by the Korean National Health Insurance Service in 2015. The lung cancer group included patients (n = 2,003) initially diagnosed with lung cancer between January 2010 and December 2013. The main outcome was all-cause mortality. A Cox proportional hazard regression analysis was used to calculate the relative risk of mortality. @*Results@#Among the newly diagnosed lung cancer cases, 1,004 (50.1%) were included in the analysis. A 15.1-month median survival benefit was observed in the EGFR-TKI group than that of the multimodality therapy group. The risk of mortality was as follows: EGFR-TKI treatment group (n = 142; hazard ratio [HR], 5.29; 95% confidence interval [CI], 3.57 to 7.86) and multimodality therapy group (n = 326; HR, 7.42; 95% CI, 5.19 to 10.63) compared to surgery only (n = 275). @*Conclusions@#Patients with advanced lung cancer harbouring EGFR mutations treated with EGFR-TKIs showed better median survival and lower risk of mortality than those in the multimodality therapy group. In the case of EGFR-mutated advanced lung cancer, there is room for downstaging in the TNM classification.

Syringocystadenocarcinoma Papilliferum in Situ Secondary to Scalp Nevus Sebaceus / 대한피부과학회지

Syringocystadenocarcinoma papilliferum in situ is extremely rare. A 51-year-old female presented with a solitary yellowish patch on the scalp, accompanied by hair loss and a protruding mass. Histopathological evaluation revealed a large number of sebaceous glands and mild papillomatosis without hair follicles. The tumor contained many cystic spaces filled with amorphous material and a connection to the epidermis. The tumor cells showed papillomatous projections and were multilayered with nuclear atypia but no dermal involvement or lymphovascular invasion. On immunohistochemical analysis, the tumor cells showed immunopositivity for carcinoembryonic antigen, Ki-67, epithelial membrane antigen, and gross cystic disease fluid protein-15. Therefore, the patient was diagnosed with syringocystadenocarcinoma papilliferum in situ originating from a nevus sebaceus. The tumor was removed by wide excision, and no recurrence was observed. Our case report supports the multistep pathogenesis of syringocystadenocarcinoma papilliferum originating from a nevus sebaceus.

Syringocystadenocarcinoma Papilliferum in Situ Secondary to Scalp Nevus Sebaceus / 대한피부과학회지

Syringocystadenocarcinoma papilliferum in situ is extremely rare. A 51-year-old female presented with a solitary yellowish patch on the scalp, accompanied by hair loss and a protruding mass. Histopathological evaluation revealed a large number of sebaceous glands and mild papillomatosis without hair follicles. The tumor contained many cystic spaces filled with amorphous material and a connection to the epidermis. The tumor cells showed papillomatous projections and were multilayered with nuclear atypia but no dermal involvement or lymphovascular invasion. On immunohistochemical analysis, the tumor cells showed immunopositivity for carcinoembryonic antigen, Ki-67, epithelial membrane antigen, and gross cystic disease fluid protein-15. Therefore, the patient was diagnosed with syringocystadenocarcinoma papilliferum in situ originating from a nevus sebaceus. The tumor was removed by wide excision, and no recurrence was observed. Our case report supports the multistep pathogenesis of syringocystadenocarcinoma papilliferum originating from a nevus sebaceus.

Lobulated Bowen's Disease with a Clear Cell Change

Bowen's disease usually manifests as a slowly enlarging erythematous scaly patch or plaque. An uncommon variant of Bowen's disease showing a verrucous appearance has been reported and a distinct variant with a prominent clear cell change on histopathology, in addition to a verrucous surface change, was also reported. We describe novel form of Bowen's disease having a cerebriform appearance and showing histopathologically a significant clear cell change and propose that the clinical term “lobulated Bowen's disease” would be compatible for the description of this unique clinical variant. From a histopathological point of view, the precise definition and etiopathogenesis of the clear cell change in Bowen's disease should be elucidated.

A Comparison of Implants Used in Double Door Laminoplasty : Allogeneic Bone Spacer versus Hydroxyapatite Spacer

OBJECTIVE: The aim of this study was to compare the clinical and radiological outcomes associated with the use of hydroxyapatite (HA) spacer and allogeneic bone (AB) spacer in laminoplasty. METHODS: From January 2006 to July 2014, 79 patients with cervical spondylotic myelopathy or ossification of the posterior longitudinal ligament underwent cervical laminoplasty. The radiologic parameters were obtained from plain radiography and three-dimensional computed tomography. All images were taken before and after surgery. Cervical lordosis, spinal canal dimension, fusion between lamina and spacer, and resorption of spacer were checked. Clinical outcomes were assessed using visual analog scale and Japanese Orthopedic Association. RESULTS: Double-door laminoplasty was performed on 280 levels : 182 in the HA group and 98 in the AB group. The mean follow-up was 23.1 months (range : 4–69 months). Similar fusion rates were found in these groups (p=0.3). The resorption rate between lamina and spacer was lower in the HA group (p<0.001). During the immediate postoperative period, the canal dimension of both groups increased compared with the results in the preoperative period. However, the canal dimension of the AB group decreased over time compared with that of the HA group (p<0.001). CONCLUSION: Double-door laminoplasty improved the clinical outcomes of both groups. However, the spinal canal dimension in the AB group showed a greater degree of reduction than in the HA group at the final postoperative follow-up. Therefore, we suggest that surgeons consider the use of larger-sized AB spacers in double-door laminoplasties.

A Case of Intralymphatic Histiocytosis after Orthopedic Metal Implants / 대한피부과학회지

A 64-year-old female presented with a 1-year history of livedo-like erythematous patches and plaques around the surgical scar on the left knee. Examinations revealed poorly demarcated, erythematous, indurated patches and plaques, with mild tenderness overlying the medial and inferior portion of the surgical scar. Histopathology revealed a mixed dermal infiltrate with glomeruloid intravascular accumulation of histiocytes and neutrophils. Histiocytes were identified by immunostaining for CD68. Immunostains for CD31 and D2-40 confirmed the intra-lymphatic location of the histiocytes. Recently, there have been several case reports of erythematous patches around the joints, which histopathologically show histiocytic aggregations in dermal vessels. Intra-lymphatic histiocytosis is a rare group of skin diseases characterized by the proliferation of histiocytes in the vessel lumen. Although the pathogenesis of intra-lymphatic histiocytosis is unknown, a role for lymphatic stasis secondary to chronic inflammation or surgery has been suggested. We present the case of a 64-year-old female who developed a tender rash on her left knee 1 year after orthopedic metal implants. To our knowledge, this is the first case of intra-lymphatic histiocytosis reported in association with a metal implant in the Korean dermatologic literature.

A Case of Giant Congenital Melanocytic Nevus Associated with Vitiligo / 대한피부과학회지

No abstract available.

Coexistence of Spinal Intramedullary Tuberculoma and Multiple Intracranial Tuberculomas

Spinal intramedullary tuberculoma remains a very rare entity of central nervous system tuberculosis. This is the same with the coexistence of spinal intramedullary and intracranial tuberculomas that remains extremely rare with less than 20 cases reported at present. Authors describe this uncommon case by analyzing a 65-year-old female patient who had past history of kidney transplantation due to stage 5 chronic kidney disease and pulmonary tuberculosis on medication. The patient experiences progressive paraplegia and numbness on both lower extremities. Magnetic resonance imaging demonstrated an intramedullary mass at T9-10 level and multiple intracranial enhancing nodules. Microsurgical resection of spinal intramedullary mass was performed and the lesion was histopathologically confirmed as Mycobacterium tuberculosis. Efficient diagnosis and management of this rare disease are reviewed along with previously reported cases.

Long-lasting Allergic Patch Test Reaction / 대한피부과학회지

A long-lasting allergic patch test reaction (LLAPTR) is generally defined as a positive patch test reaction that persists for weeks or months, at least 2 weeks after application of the allergen. Several allergens, including gold sodium thiosulfate, have been reported as causes of LLAPTR, however, it has never been described in the Korean dermatologic literature. We report a case of LLAPTR to Cl+Me-Isothiazolinone (Kathon CG) and p-tert-butylphenol formaldehyde resin (PTBP-FR) in a 45-year-old woman with suspected allergic contact dermatitis.

Primary Localized Cutaneous Nodular Amyloidosis Following Local Trauma

Primary localized cutaneous nodular amyloidosis (nodular amyloidosis) is a rare and distinct type of amyloidosis, in which amyloid L deposition is limited to the skin and typically manifested as a tumefactive nodule on the acral sites. However, the definite cause of nodular amyloidosis is still unknown. Although it is relatively well known that the amyloid deposits in nodular amyloidosis originate from immunoglobulin light chains secreted by local plasma cells, traumatic injury to the skin has rarely been recognized as a triggering factor of nodular amyloidosis. Herein, we present a case of a 50-year-old male patient with primary localized cutaneous nodular amyloidosis, which occurred after local trauma, and discuss the relationship between traumatic damage and dermal amyloid L deposition.

Bullae and Sweat Gland Necrosis in a Non-comatose Patient after Alcohol Intake / 대한피부과학회지

Bullae and sweat gland necrosis is an entity previously reported to occur in comatose patients. Since its first description in comatose patients after carbon monoxide intoxication, similar lesions have also been reported in comatose patients after overdose with several drugs and in immobilized non-comatose patients. To our knowledge, there have been only three occurrences of bullae and sweat gland necrosis after alcohol intake in the Korean dermatologic literature. These cases were never described, but only summarized in a table of an original article. Herein, we more fully describe a case of bullae and sweat gland necrosis in a non-comatose patient after alcohol intake. The case demonstrates conclusively that bullae and sweat gland necrosis can occur not only in a comatose patient but also in a non-comatose patient.

The Koebner Phenomenon in Erythema Multiforme after Getting Acupuncture and Cupping Glass Therapy / 대한피부과학회지

Since its first description in 1887 as the appearance of psoriatic lesions in the uninvolved skin of psoriatic patients as a consequence of trauma, the Koebner phenomenon has been described in numerous diseases. Several types of injury can trigger the Koebner phenomenon, such as physical injury, surgical wound, irritation, sunburn, or radiation therapy. In this report, we describe a 43-year-old woman who developed erythema multiforme which was accompanied by the Koebner phenomenon after getting acupuncture and cupping glass therapy. The purpose of the report is to broaden our awareness of the spectrum of injury that can trigger the Koebner phenomenon.

Clinicopathological Study of Actinic Keratoses in Korea / 대한피부과학회지

BACKGROUND: Actinic keratoses (Aks) are common precancerous lesions and they affect a great portion of the elderly Caucasian population. Many studies have been conducted on Aks and mainly in Western society. Only a few clinical and histopathological studies of Aks have been conducted in Korea. OBJECTIVE: The aim of this study was to investigate the clinical and histopathological features of Aks in Koreans. METHODS: Ninety six patients were enrolled. We reviewed the medical records and the biopsy specimens. RESULTS: The ratio of males to females was 1:4.05 and the most frequent age groups were the 8th (39.6%) and 9th decade (35.4%). Multiple lesions (53.1%) were more common than single lesion (46.9%). The duration of disease was less than 1 year in many cases (43.8%). The most commonly involved site was the face (82.3%). The color was erythematous in 55.2% of the cases, brownish in 34.4% and dark-brownish in 10.4%. Scale and crust were noted in 33.3% and 24.0% of the cases, respectively. Aks were associated with squamaous cell carcinoma in 12.5% of the cases, basal cell carcinoma in 6.3% and verrucous carcinoma in 2.1%. Histopathologically, the hypertrophic type of Aks was noted in 40.6% of the cases, atrophic in 39.6%, acantholytic in 10.4% and bowenoid in 9.4%. The most common treatment modality was cryotherapy with liquid nitrogen (95.8%). CONCLUSION: Aks in Koreanse usually presented on the face of elderly females. The lesions were more commonly noted as multiple lesions than single lesion. Various histopathologic types were noted, including the hypertrophic, atrophic, acantholytic and bowenoid subtypes. The greater association with cutaneous malignancies was noted as compared to that in the previous reports. Close follow-up and physical examination are recommended.

A Case of Woolly Hair / 대한피부과학회지

Woolly hair is normal for most black people, but it is usually abnormal for persons of a non-African or non-Negroid background. A 5-year-old girl visited our clinic complaining of a hair abnormality. Her hair had been tightly curled, fine, and hypopigmented on the entire scalp since birth. Her uncle's son had similar abnormalities of his scalp hairs. On the scanning electron microscopy, the patient's hair revealed cuticular damage with splintering. To the best of our knowledge, this is the first description of a patient with woolly hair who has familial history in Korea.

A Case of Fibrous Hamartoma of Infancy with Hypertrichosis on the Axilla / 대한피부과학회지

Fibrous hamartoma of infancy is a rare benign lesion that presents as a solitary, painless, flesh-colored, subcutaneous mass. Most of these lesions occur in the axillary region, the upper arm, the upper trunk, the inguinal area and the external genital area. The lesion histologically consists of three different components in varying proportions: well-defined fibrous trabeculae, primitive mesenchyme and, mature adipose tissue. Overlying skin changes are uncommon, including alternations in pigmentation, eccrine gland hyperplasia and increased hair. To the best of our knowledge, only 6 cases of fibrous hamartoma of infancy with hypertrichosis have been reported. In these six cases, the lesions were located on the buttocks and back, which were non-predilection sites. We report the first case of fibrous hamartoma of infancy with hypertrichosis on the axilla, which is known as a predilection site.

A Case of Generalized Pustular Psoriasis Improved with Isotretinoin / 대한피부과학회지

Generalized pustular psoriasis is a lethal variant of psoriasis characterized by the appearance of sterile pustules on psoriatic skin. Etretinate and acitretin are effective in pustular forms of psoriasis, including generalized pustular psoriasis. A major concern with the use of systemic retinoid is their high teratogenic potential. Since etretinate and acitretin are remetabolized into long-lived compounds, isotretinoin may be used to treat women of childbearing years with generalized pustular psoriasis. We report a case of generalized pustular psoriasis in a 28-year-old woman whose condition was improved with isotretinoin. Clinical improvement was noted with the administration of isotretinoin at the dose of 30mg/day.

A Case of Intraepidermal Epithelioma / 대한피부과학회지

It has been in dispute for a long time whether so called "intraepidermal epithelioma of Borst-Jadassohn" in which epithelial cells proliferate and form nests in the epidermis, is a distinct pathologic entity or not. We report a case diagnosed nothing but intraepidermal epithelioma.

Secondary Localized Cutaneous Amyloidosis in Seborrheic Keratosis / 대한피부과학회지

We examined the amyloid deposits in seborrheic keratosis by using Dylon stain. Histochemically identified amyloid deposits in seborrheic keratosis were studied with monoclonal cytokeratin antibodies. Amyloid deposits were detected in 2 of 22 seborrheic keratosis. Anti-keratin antibody 34E12 reacted with amyloid deposits shown by Dylon stain in 2 of 22 seborrheic keratosis. Anti-keratin antibody 34B4 did not react with amyloid deposits

Wound ballistics:gunshot wounds and princuples of management

No abstract available.