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@#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
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
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@#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.
ABSTRACT
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.
Subject(s)
Humans , Demography , Follow-Up Studies , Interleukins , Korea , Nasopharyngitis , Prospective Studies , Psoriasis , Quality of Life , Referral and Consultation , Treatment OutcomeABSTRACT
Urticaria multiforme is a cutaneous condition observed in children. This self-limited condition is characterized by well-circumscribed, annular, and erythematous wheals, which spontaneously disappear within a few days. Patients commonly present with acral edema and show a favorable response to antihistamines. It is frequently misdiagnosed as erythema multiforme or serum sickness-like reaction owing to distinctive annular wheals with an ecchymotic center observed in patients. This condition was previously known as acute annular urticaria. The term urticaria multiforme was introduced in 2007 to highlight this specific variant of urticaria. We describe 2 patients with acral edema and transient annular wheals with dusky red centers, which were diagnosed as urticaria multiforme lesions. To our knowledge, the Korean literature includes only a single case report describing acute annular urticaria. However, the report does not use the term ‘urticaria multiforme’ to describe this condition.
Subject(s)
Child , Humans , Edema , Erythema Multiforme , Histamine Antagonists , Pigmentation , UrticariaABSTRACT
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
No abstract available.
Subject(s)
Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Nevus, PigmentedABSTRACT
BACKGROUND: There are limited literatures regarding the clinical characteristics of the specific dermatoses of pregnancy, and their terminology has been confusing and misleading. A simplified classification is proposed with the new terminology 'atopic eruption of pregnancy', comprising several disease entities such as eczema of pregnancy, prurigo of pregnancy, and pruritic folliculitis of pregnancy. OBJECTIVE: A clinical study was performed to determine the exact nature of atopic eruption of pregnancy in Korea. METHODS: We retrospectively reviewed the medical records of 75 patients who were diagnosed and reclassified as atopic eruption of pregnancy at Pusan National University Hospital. RESULTS: Among 121 patients with the specific dermatoses of pregnancy, 75 (62%) were diagnosed with atopic eruption of pregnancy. The most affected sites were the flexural surfaces of the neck and extremities, followed by the abdomen and back. The mean gestational age was 18.5 weeks. In 92% of cases, atopic eruption of pregnancy started during the 1st and 2nd trimesters of pregnancy. Major fetal problems were not seen. Atopic disease was observed in 26 (34.7%) patients. Total serum IgE levels were elevated in 10 (50%) patients among the 20 patients who were tested for IgE levels. Forty-four (58.5%) patients improved after delivery, and atopic eruption of pregnancy recurred after delivery in 6 (8%) patients. CONCLUSION: The characteristics of AEP in Korea were mostly similar to those of AEP in Western countries. However, AEP in Korea seems to show a poor prognosis and be refractory to treatment compared to that of Western countries.
Subject(s)
Humans , Pregnancy , Abdomen , Classification , Eczema , Extremities , Folliculitis , Gestational Age , Immunoglobulin E , Korea , Medical Records , Neck , Prognosis , Prurigo , Retrospective Studies , Skin DiseasesABSTRACT
Erythrodermic psoriasis (EP) is a very severe variant of psoriasis whose management poses a challenge to physicians, as currently available therapies often provide unsatisfactory results. Many biologics have been used to treat chronic plaque psoriasis, the most common form of psoriasis; however, their effectiveness for EP is poorly understood. A recently developed biologic, golimumab, has been extensively studied for the treatment of moderate-to-severe active rheumatoid arthritis, psoriatic arthritis, active ankylosing spondylitis, and chronic plaque psoriasis. However, no clinical trials have been performed for EP. Here, we report the case of a 32-year-old man who presented with severe psoriasis that previously failed to respond satisfactorily to methotrexate, cyclosporine, retinoid, narrow-band ultraviolet B phototherapy, and topical agents (i.e., steroids and calcipotriol). Skin lesions worsened progressively and developed into erythroderma. Psoriatic arthritis was also detected. Conventional therapies lacked efficacy. Therefore, we administered golimumab 50 mg. The skin lesions improved significantly according to the Psoriasis Area and Severity Index score after the first administration; lesions improved further throughout the treatment course. Although additional studies are required to fully evaluate the efficacy and safety of golimumab, this agent may be an alternative treatment strategy for some patients with recalcitrant EP.