ABSTRACT
Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder caused by mutations in the MBTPS2 gene. It is characterized by ichthyosis and alopecia from birth. Photophobia may be present in infancy or early childhood. Its mode of inheritance is X-linked recessive; thus, it mostly affects male. The disease severity varies, ranging from mild cases limited to the skin to the severe variant involving multiple extracutaneous features. A 7-year-old boy presented with scanty hair on scalp and eyebrows at birth. On physical examination, scaly patches were observed on the whole body and spiky follicular hyperkeratotic papules were observed on the face and trunk. He also suffered from severe photophobia. Histopathological examination of the scalp showed miniaturized hair follicles without perifollicular fibrosis. Genetic analysis revealed a novel mutation in the MBTPS2 gene which was a homozygous missense mutation of c.245T>C leading to an amino-acid substitution from phenylalanine to serine (p.Phe82Ser). We diagnosed this patient with IFAP syndrome. To date, 25 pathogenic MBTPS2 gene mutations have been identified. To our knowledge, c.245T>C is a novel homozygous missense mutation in the MBTPS2 gene, which has not been reported in Human Gene Mutation Database, ClinVar Database, and Leiden Open Variation Database. Previous reports suggested genotype-phenotype correlations in the MBTPS2 gene mutations. Supported by a previous notion that genotype correlates with phenotype, this novel mutation can be a predictive factor for the mild form of IFAP syndrome, restricted to the classic symptom triad.
ABSTRACT
Background@#Cyclosporine is a recommended third-line treatment for chronic spontaneous urticaria (CSU) that is resistant to H1-antihistamines according to the EAACI/GA 2 LEN/EDF/WAO guidelines for management of urticaria. However, some patients with refractory urticaria do not respond to cyclosporine or antihistamines. Omalizumab, a humanized anti-immunoglobulin E antibody, has been shown to be effective and safe for antihistamine-resistant CSU. However, there are few reports on the efficacy of omalizumab in patients with CSU who are resistant to cyclosporine. @*Objective@#To evaluate the efficacy of omalizumab in patients with cyclosporine-resistant CSU. @*Methods@#Recalcitrant CSU patients who had symptoms (seven-day urticaria activity score, UAS7≥7) despite being administered cyclosporine (3∼5 mg/kg/day) and H1-antihistamine at up to a four-fold increased dose for 4 weeks were included in this study. Omalizumab was administered at 150 mg or 300 mg by subcutaneous injection every 4 weeks. Efficacy was assessed using UAS7 12 weeks after the initial administration of omalizumab. @*Results@#A total of 28 patients (18 women, 10 men) with an average age of 43.8 years were included in the study. The mean duration of CSU was 40.0 (2∼288) months, and the mean UAS7 at baseline was 14.2 (9∼35) months. Overall, 22 patients (78.6%) showed a complete (UAS7=0) or partial response (0＜UAS7≤6) at 12 weeks. Patients who were administered 300 mg of omalizumab had a more complete response (9/15, 60%) than those who were treated with 150 mg (3/13, 23.1%). @*Conclusion@#Omalizumab is an effective therapy for CSU patients who do not respond to cyclosporine.
ABSTRACT
Background@#Pityriasis rosea is a self-limiting, acute, or subacute inflammatory skin disease that usually starts with a herald patch on the trunk and progresses to a generalized rash over the trunk and limbs. Some clinical trials have suggested that antibiotic macrolides help shorten the duration of skin manifestations in pityriasis rosea; however, the extent of the benefits is unclear. @*Objective@#To evaluate the effectiveness of antibiotic macrolides compared to placebo in pityriasis rosea. @*Methods@#A computerized search was performed using different databases, including Cochrane, Embase, and PubMed. Five randomized controlled trials were included. Then, statistical analyses of the outcome data extracted from the studies were performed using Rex Software (version 3.0.1). @*Results@#Total 160 records were identified by searching databases including Cochrane, Embase, and PubMed. The results of the meta-analysis demonstrated statistical differences between the use of antibiotic macrolides and placebo in the complete and partial resolution of pityriasis rosea (effectiveness) (RR: 1.84, 95% CI: 1.21∼2.78, p=0.004).However, in subgroup analyses, there were no statistical differences compared to placebo in the skin manifestation effectiveness group for azithromycin and clarithromycin, whereas erythromycin showed statistical differences. @*Conclusion@#Erythromycin was superior to placebo in the treatment of pityriasis rosea. However, this study had some limitations, including insufficient articles and data. Therefore, further investigation is required.
ABSTRACT
Erosive adenomatosis of the nipple (EAN), also known as nipple adenoma, florid papillomatosis, or papillary adenoma of the nipple, is a benign neoplasm originating from a lactiferous duct of the breast. Although the potential for malignant change is invariably negligible, the nature of the disease is quite intractable despite several treatment methods. Surgical excision is known as the treatment of choice, but this invasive approach is generally not acceptable to the vast majority of patients due to the cosmetic outcomes. Cryosurgery could be an alternative choice to preserve the structure of the nipple-areola complex, though its application has not been studied due to the paucity of cases. A 22-year-old female presented with a unilateral, crater-like erosion of the left nipple with serosanguineous discharge. The skin biopsy revealed proliferation of tubular structures, which corresponded to EAN. She was treated with 4 sessions of cryosurgery (open cryospray with liquid nitrogen) over 6 months, and the skin lesion resolved completely without any recurrence for 12 months. Although further study is required to determine the optimal treatment regimen for EAN, cryosur-gery should be considered as an effective option to surgical excision.
ABSTRACT
Background@#Cyclosporine is a recommended third-line treatment for chronic spontaneous urticaria (CSU) that is resistant to H1-antihistamines according to the EAACI/GA 2 LEN/EDF/WAO guidelines for management of urticaria. However, some patients with refractory urticaria do not respond to cyclosporine or antihistamines. Omalizumab, a humanized anti-immunoglobulin E antibody, has been shown to be effective and safe for antihistamine-resistant CSU. However, there are few reports on the efficacy of omalizumab in patients with CSU who are resistant to cyclosporine. @*Objective@#To evaluate the efficacy of omalizumab in patients with cyclosporine-resistant CSU. @*Methods@#Recalcitrant CSU patients who had symptoms (seven-day urticaria activity score, UAS7≥7) despite being administered cyclosporine (3∼5 mg/kg/day) and H1-antihistamine at up to a four-fold increased dose for 4 weeks were included in this study. Omalizumab was administered at 150 mg or 300 mg by subcutaneous injection every 4 weeks. Efficacy was assessed using UAS7 12 weeks after the initial administration of omalizumab. @*Results@#A total of 28 patients (18 women, 10 men) with an average age of 43.8 years were included in the study. The mean duration of CSU was 40.0 (2∼288) months, and the mean UAS7 at baseline was 14.2 (9∼35) months. Overall, 22 patients (78.6%) showed a complete (UAS7=0) or partial response (0＜UAS7≤6) at 12 weeks. Patients who were administered 300 mg of omalizumab had a more complete response (9/15, 60%) than those who were treated with 150 mg (3/13, 23.1%). @*Conclusion@#Omalizumab is an effective therapy for CSU patients who do not respond to cyclosporine.
ABSTRACT
Background@#Pityriasis rosea is a self-limiting, acute, or subacute inflammatory skin disease that usually starts with a herald patch on the trunk and progresses to a generalized rash over the trunk and limbs. Some clinical trials have suggested that antibiotic macrolides help shorten the duration of skin manifestations in pityriasis rosea; however, the extent of the benefits is unclear. @*Objective@#To evaluate the effectiveness of antibiotic macrolides compared to placebo in pityriasis rosea. @*Methods@#A computerized search was performed using different databases, including Cochrane, Embase, and PubMed. Five randomized controlled trials were included. Then, statistical analyses of the outcome data extracted from the studies were performed using Rex Software (version 3.0.1). @*Results@#Total 160 records were identified by searching databases including Cochrane, Embase, and PubMed. The results of the meta-analysis demonstrated statistical differences between the use of antibiotic macrolides and placebo in the complete and partial resolution of pityriasis rosea (effectiveness) (RR: 1.84, 95% CI: 1.21∼2.78, p=0.004).However, in subgroup analyses, there were no statistical differences compared to placebo in the skin manifestation effectiveness group for azithromycin and clarithromycin, whereas erythromycin showed statistical differences. @*Conclusion@#Erythromycin was superior to placebo in the treatment of pityriasis rosea. However, this study had some limitations, including insufficient articles and data. Therefore, further investigation is required.
ABSTRACT
Acute graft-versus-host disease (GVHD) is a common complication associated with bone marrow transplantation. In the rare cases where it occurs after solid organ transplantation, including that of the liver, pancreas, or heart, it often has fatal outcomes. A 50-year old man developed whole-body flaccid vesiculobullous eruption 6 weeks after living donor liver transplantation. Skin biopsy revealed epidermal necrosis with vacuolization of the basal layer and lymphocytic infiltration in the dermis. Stomach erosions were found during an endoscopy, and a concurrent biopsy revealed severe epithelial necrosis. GVHD was diagnosed, with mixed chimerism confirmed using short tandem repeat testing. Immunosuppressive agent therapy was instituted, but the patient expired from hematologic complications and brain damage 6 weeks after treatment initiation. Skin lesions in GVHD generally appear with erythematous maculopapular eruption, but some atypical cutaneous manifestations could be unnoticed by physicians. This report describes miliaria crystallina-like eruption of acute GVHD after liver transplantation.
ABSTRACT
The salt and pepper appearance of the skin is composed of salt (vitiligo-like depigmentation) and pepper (perifollicular pigmentation). Mixed connective tissue disease (MCTD) is a distinct disease entity with mixed features of systemic lupus erythematosus, systemic sclerosis, myositis, and rheumatoid arthritis with high titers of antibodies to U1 ribonucleoprotein (U1RNP). There are a few reports of pigmentary changes in MCTD. A 51-year-old woman presented with variably sized hypopigmented macules along with relative hyperpigmentation of the perifollicular areas on the face and neck; she was diagnosed with MCTD in a rheumatology clinic. Histopathology revealed dermal sclerosis in both hypo- and hyperpigmented areas, loss of melanocyte and pigment only in the hypopigmented area, and normal number of melanocyte and pigment in the hyperpigmented area. To the best of our knowledge, ‘salt and pepper appearance of the skin’ has rarely been reported in MCTD.
ABSTRACT
Background@#Fractional carbon dioxide laser (FCL) has been used to treat keloid and hypertrophic scars as monotherapy or combination therapy, including intralesional triamcinolone acetonide (ITAC). However, whether the combination of FCL and ITAC is really effective compared with other treatments, such as ITAC monotherapy in treating keloid and hypertrophic scars, remains unclear.Objective To evaluate the effectiveness of FCL plus ITAC compared with ITAC monotherapy in treating keloid and hypertrophic scars. @*Methods@#A computerized search was performed in different databases, including Cochrane, Embase, and PubMed.One randomized controlled trial and two controlled clinical trials were included. Statistical analyses of the extracted outcome data from the studies were then calculated using the Rex Software (version 3.0.1). @*Results@#A total of 203 records were identified by searching databases, including Cochrane, Embase, and PubMed.The meta-analysis results, including three studies, demonstrated that although FCL combined with ITAC showed a slightly pronounced improvement in keloid and hypertrophic scars than ITAC monotherapy, there was no statistical difference (SMD: 0.26, 95% confidence interval [CI]: −0.10∼0.61, p=0.1541). @*Conclusion@#FCL combined with ITAC may not be a cost-effective treatment for the treatment of keloid and hypertrophic scars due to similar effectiveness compared with ITAC monotherapy. However, this study had limitations, including insufficiency of published articles and data. Therefore, further investigations are needed.
ABSTRACT
Background@#Bacille Calmette-Guérin (BCG) vaccination has been widely used to prevent severe infections caused by Mycobacterium tuberculosis. Although BCG vaccination is generally safe, some cutaneous complications may occur. However, cutaneous complications related to BCG infection have been rarely investigated in Korea.Objective This study aimed to investigate the clinical characteristics of cutaneous complications following BCG vaccination in Korean patients. @*Methods@#We identified 18 patients with cutaneous complications following BCG vaccination in the Pusan National University Hospitals (Busan and Yangsan) from 2002 to 2019. Clinical manifestations and course were examined by the review of medical records and photographs. @*Results@#Among BCG-vaccinated persons, 18 patients manifested with BCG-specific cutaneous complications. The mean age of the patients was 10.6±10.1 months, and 10 (55.6%) were female. The specific cutaneous complications following BCG vaccination were local abscess (7, 38.9%), lymphadenitis (4, 22.2%), BCG reactivation in incomplete Kawasaki disease (4, 22.2%), tuberculid (3, 16.7%), and scrofuloderma (1, 5.6%). Disseminated BCG infection was detected in 2 brothers (11.1%) who had an immunocompromised state and a family history of BCG complication. @*Conclusion@#Specific cutaneous complications after BCG vaccination are rare, but may occur in various manifestations.
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Haploinsufficiency of A20 (HA20) is a newly described autoinflammatory disease caused by loss-of-function mutations in the TNFAIP3 gene. Clinical phenotypes are heterogenous and resemble Behçet's disease, juvenile idiopathic arthritis, inflammatory bowel disease, or periodic fever syndrome, with symptoms developing at an early age. Here, we report the first case of infantile familial HA20 in Korea, which mimics neonatal lupus erythematosus (NLE). A 2-month-old infant exhibited symptoms including recurrent fever, erythematous rashes, and oral ulcers, with elevated liver enzymes, and tested positive for several autoantibodies, similar to systemic lupus erythematosus (SLE); therefore, she was suspected to have NLE. However, six months after birth, symptoms and autoantibodies persisted. Then, we considered the possibility of other diseases that could cause early onset rashes and abnormal autoantibodies, including autoinflammatory syndrome, monogenic SLE, or complement deficiency, all of which are rare. The detailed family history revealed that her father had recurrent symptoms, including oral and genital ulcers, knee arthralgia, abdominal pain, and diarrhea. These Behcet-like symptoms last for many years since he was a teenager, and he takes medications irregularly only when those are severe, but doesn't want the full-scale treatment. Whole-exome sequencing was conducted to identify a possible genetic disorder, which manifested as pathogenic variant nonsense mutation in the TNFAIP3 gene, leading to HA20. In conclusion, HA20 should be considered in the differential diagnosis of an infant with an early-onset dominantly inherited inflammatory disease that presents with recurrent oral and genital ulcerations and fluctuating autoantibodies. Additionally, it also should be considered in an infant with suspected NLE, whose symptoms and abnormal autoantibodies persist.
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Purpose@#We investigated the expression of Nrf2 in colorectal cancer and its correlation with clinicopathological characteristics as well as mechanisms and roles of Nrf2 expression including cell signaling pathway, survival, proliferation, and migration. @*Methods@#Nrf2 expression was measured in 12 and 30 different colorectal cancer (CRC) tissues by western blot (WB) and immunohistochemistry (IHC), respectively. SW480 cells were used for cell proliferation and cell migration tests. The correlation between the expression of Nrf2 and clinicopathologic parameters were evaluated using the chi-square or Fisher exact test. Data are expressed as the mean ± standard deviation for 3 independent experiments. P < 0.05 was considered statistically significant. @*Results@#Analysis of WB demonstrated that Nrf2 proteins were increased in CRC tissues, and decreased in normal tissues. IHC staining showed that the Nrf2 expression was elevated in CRC tissues, compared to matched normal tissues. When SW480 cells were suppressed with small interfering RNA of Nrf2, cell viability was inhibited, and cell apoptosis was increased. These results were found along with suppression of the phosphorylated form of extracellular signal-regulated kinase 1/2 and AKT. @*Conclusion@#This study suggests that overexpression of Nrf2 may be related to carcinogenesis and progression of CRC.
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No abstract available.
Subject(s)
Acupuncture , Foreign Bodies , Granuloma, Foreign-Body , Leprosy , Leprosy, LepromatousABSTRACT
No abstract available.
Subject(s)
Neck , Neoplasm Metastasis , Thyroid Gland , Thyroid Neoplasms , ThyroidectomyABSTRACT
BACKGROUND: Secukinumab, a fully human monoclonal antibody that targets interleukin (IL)-17A, which is a central cytokine in the pathogenesis of psoriasis, has emerged as a promising treatment for moderate to severe psoriasis. However, to date, there are no real-world data for secukinumab in Korean patients with psoriasis. OBJECTIVE: To assess the clinical efficacy and safety of secukinumab in Korean patients with psoriasis. METHODS: Prospective data were gathered during follow-up from 28 consecutive patients with chronic plaque-type psoriasis treated with secukinumab for minimum of 12 weeks at a single referral center. Patient demographics, Psoriasis Area Severity Index (PASI) score, Physicians' Global Assessment (PGA), Dermatologic Life Quality Index (DLQI), and adverse events were investigated. RESULTS: The mean PASI score was significantly decreased after the induction period of secukinumab treatment (paired t-test, p<0.05). Of the 28 patients, 17 (60.7%) had obtained near complete clearance (PASI 90) at the last follow-up visit. No unexpected adverse events, other than nasopharyngitis, were observed. CONCLUSION: Secukinumab can be of benefit for the treatment of Korean patients with psoriasis, as the treatment was associated with a rapid and satisfactory response and safety profile.