Adjuvant rituximab treatment for pemphigus: a retrospective study of 45 patients in a single-center with long-term follow-up

( Seh Hyun Park ),( Tae Hyung Kim ),( Yuri Choi ),( Sang Eun Lee ),( Soo Chan Kim ) 대한피부과학회 2015 대한피부과학회 학술발표대회집 Vol.67 No.2

Background: Pemphigus is a potentially life-threatening autoimmune bullous disease. Rituximab is one of the most effective therapeutic agents for treating pemphigus. Objectives: We aimed to evaluate the clinical response and relapse rate of rituximab in the treatment of pemphiguswith long-term follow-up. We also evaluated the success of repeated cycles of rituximab to treat relapse. Methods: A total of 45 patients with pemphigus who were treated with at least 1 cycle of 2 infusions of rituximab (375 mg/m2 per infusion weekly) were retrospectively studied. All the patients were followed up for more than 2 years and up to 8 years after first rituximab cycle. Results: Overall, all 45 patients (100%) achieved complete or partial remission within 8 months from the first treatment cycle. Thirty-four (76%) patients relapsed at median time of 17 months. All the patients who received additional cycles of rituximab after relapse achieved new remission. A serious adverse event attributed to rituximab treatment occurred in 1 patient who was excluded from the end-point analysis, in the form of acute respiratory distress syndrome. Conclusion: Rituximab is effective and safe for the induction and maintenance of remission in patients with pemphigus. Relapses can be frequent with long-term follow-up but can be managed with retreatment of rituximab.

[P480] Three cases of phytophotodermatitis showing pigmentation on the hand

( Seh Hyun Park ),( Ji Young Choi ),( Jung Min Lim ),( Mi Ryung Roh ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.1

Phytophotodermatitis is a skin eruption that occurs after contact with photosensitizing botanical substances in plants and exposure to UV light. Furocoumarin, which causes photochemical reaction by psolaren, is present in lime, celery, lemon, and fig tree. Acutely, erythema and vesicles occurs, leaving marked hyperpigmentation after resolution of the inflammation. Herein, we report a case showing pigmentation on the finger and dorsum of hand after contact with lime and two more similar cases without specific etiology. A 30 year-old female presented with diffuse brownish pigmented patch on the finger. She had a history of touching lime on her vacation to Thailand, right before the skin eruption. Histopathology of the pigmentation showed increased epidermal melanin, basal vacuolar degeneration, and superficial lymphocytic infiltration. Other two patients presented with similar pigmentation on the hand and finger with similar contact history showing increased melanin, mild basal vacuolar degeneration, and necrotic keratinocytes on the epidermis. In all three cases, there was no other contact history suggesting allergic contact dermatitis or irritant contact dermatitis. Based on clinical and histopathologic results, three cases were suggested as phytophotodermatitis. Phytophotodermatitis should be considered in such cases and contact history with plants containing furocoumarin and acute sun exposure should be asked in these patients.

Circulating Eosinophil and Neutrophil Counts Correlate with Disease Severity in Bullous Pemphigoid

( Seh Hyun Park ),( Si-hyung Lee ),( Jong Hoon Kim ),( Soo-chan Kim ) 대한피부과학회 2018 Annals of Dermatology Vol.30 No.5

Background: Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease characterized by tissue- bound and circulating autoantibodies directed against BP180 and/or BP230 antigens. Various inflammatory cells are involved in the development of blister in BP. Objective: The aim of this study was to evaluate the correlation between peripheral leukocyte counts and BP severity. Methods: We retrospectively included 60 patients with BP, who had not been treated with systemic steroid at the time of blood sampling. The patients were classified into two groups, those with admission history (admission group) and those without admission history (non-admission group). Disease severity was evaluated using three parameters: admission history, initial steroid dosage, and modified version of a pemphigus scoring system. We evaluated the correlation between peripheral leukocyte counts and disease severity measured by the three parameters. Results: The admission group showed a significant increase in disease severity measured by initial steroid dosage and severity score compared with the non-admission group. Additionally, the admission group had increased total leukocyte, eosinophil, and neutrophil counts. In the correlation study, the peripheral eosinophil and neutrophil counts showed positive correlation with BP severity evaluated by both initial steroid dosage and the pemphigus scoring system. Conclusion: Peripheral eosinophil and neutrophil counts can be used as a marker in predicting disease severity in patients with BP. (Ann Dermatol 30(5) 544∼549, 2018)

Bilateral Segmental Neurofibromatosis with Lentiginosis Showing a Checkerboard Pattern

( Seh Hyun Park ),( Si-hyung Lee ),( Soo-chan Kim ) 대한피부과학회 2019 대한피부과학회지 Vol.57 No.6

Segmental neurofibromatosis, a subtype of neurofibromatosis type 1, is characterized by neurofibromas and/or cafe-au-lait spots limited to an area or segment of the body. Checkerboard pattern is a rare type of cutaneous mosaic manifestation, characterized by squares or broad ribbons of affected skin with sharp demarcation at the midline. Herein, we report the case of a patient with bilateral segmental neurofibromatosis with lentiginosis showing a checkerboard pattern. Our patient had multiple hyperpigmented macules on her entire body in a checkerboard pattern since birth. Several cafe-au-lait patches were observed on the left buttock and right axilla. A neurofibroma was incidentally found beneath the cafe-au-lait patch by histological examination, which showed ill-defined spindle cells with elongated nuclei at the deep dermis that stained positive for S-100. Based on the clinical presentation and histopathologic results, the patient was diagnosed with bilateral segmental neurofibromatosis with lentiginosis showing a checkerboard pattern. (Korean J Dermatol 2019;57(6):328∼331)

Sclerema Neonatorum in a Full-Term Infant Showing Favorable Prognosis

( Seh Hyun Park ),( Soo-chan Kim ) 대한피부과학회 2017 Annals of Dermatology Vol.29 No.6

Sclerema neonatorum (SN) is a rare disease characterized by firm, indurated, waxy skin lesions extending throughout the body, sparing the fat-free soles, palms, and genitalia. The prognosis of SN is generally very poor, with a high fatality rate. We report the case of a full-term infant with delayed onset of SN showing good prognosis. A 4-month-old Korean male infant presented with diffuse waxy, sclerotic skin lesions on the whole body, sparing the face, nipples, and genital area, which began developing at 2 months of age. Histopathologic findings of the sclerotic skin lesions showed wide, fibrous intersecting bands in the subcutaneous fat tissue. Only sparse infiltration of lymphocytes and histiocytes was observed in the fat lobules and septa. Based on clinical presentation and histopathologic findings, he was diagnosed with SN. The patient survived with conservative care and had mild improvement of the skin lesions on his follow-up visit at 12 months of age. (Ann Dermatol 29(6) 790∼793, 2017)

[P218] LEOPARD syndrome with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor

( Seh Hyun Park ),( Si-hyung Lee ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.1

LEOPARD syndrome is a rare autosomal dominant disease. PTPN11 mutations are responsible for the disease in about 90% of patient with LEOPARD syndrome and 11 different missense PTPN11 mutations have been discovered. A missense mutation involving the 468th amino acid of the PTPN11 gene from threonine to methionine (T486M) is one of two mutations that account for 65% of the patients. LEOPARD syndrome patients with the T468M mutation show a wide spectrum of clinical features, and some LEOPARD syndrome-associated features are frequently absent, including pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness. Consequently, clinical suspicion of LEOPARD syndrome and differentiating it from clinically overlapping syndromes, including neurofibromatosis type 1 and neurofibromatosis type 1-Noonan syndrome, are challenging. Herein, we report a LEOPARD syndrome patient with T468M mutation. In this case, diffuse lentiginosis and facial dysmorphisms are prominent, however, other characteristic features were absent, including pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness, like other reported patients with the T468M mutation. Our patient also had a solitary granular cell tumor and a distinct cardiac abnormality involving an enlarged left atrium and mitral valve regurgitation, which have not been reported in patients with the T468M mutation.

[P039] Sclerema neonatorum in a full-term infant showing favorable prognosis

( Seh Hyun Park ),( Soo-chan Kim ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.1

Sclerema neonatorum (SN) is a rare disease characterized by firm, indurated, waxy skin lesions extending throughout the body, sparing the fat-free soles, palms, and genitalia. The prognosis of SN is generally very poor, with a high fatality rate. We report the case of a full-term infant with delayed onset of SN showing good prognosis. A 4-month-old Korean male infant presented with diffuse waxy, sclerotic skin lesions on the whole body, sparing the face, nipples, and genital area, which began developing at 2 months of age. Histopathologic findings of the sclerotic skin lesions showed wide, fibrous intersecting bands in the subcutaneous fat tissue. Only sparse infiltration of lymphocytes and histiocytes was observed in the fat lobules and septa. Based on clinical presentation and histopathologic findings, he was diagnosed with SN. The patient survived with conservative care and had mild improvement of the skin lesions on his follow-up visit at 11.2 months of age.

Increased frequency of Tfh cytokines in serum of patients with autoimmune bullous diseases

( Seh Hyun Park ),( Jong Hoon Kim ),( Soo-chan Kim ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.2

Background: Autoimmune bullous disease (AIBD), characterized by the blister formation in the skin and/or mucosa, produces autoantibodies reactive to desmosome and hemidesmosome. Although follicular helper T (Tfh) cells and its cytokines are essential for the formation of the pathogenic antibodies from B cells, the precise role of Tfh cells in AIBD remains unknown. Objectives: The aim of this study was to evaluate the difference and correlation in the level of Tfh cytokines in the serum of AIBD patients. Methods: We evaluated serum cytokine levels of IL-6, IL-10, tumor necrosis factor (TNF), and IL-21 in 14 epidermolysis bullosa acquisita (EBA) patients, 10 bullous pemphigoid (BP) patients, 10 pemphigus vulgaris (PV) patients, 10 pemphigus foliaceus (PF) patients, 6 paraneoplastic pemphigus (PNP) patients, and 18 healthy controls using cytometric bead array. The AIBD patients with moderate to severe diseases were selected by clinical and serological evaluation. Results: Overall, all AIBD groups showed significant increase in IL-6 and IL-10 compared to healthy control group. Additionally, PF group showed increased TNF and IL-21, and EBA group showed increased IL-21 compared to healthy controls. TNF and IL-21 were positively correlated in EBA, BP, PF, and PV groups; IL-10 and TNF in BP and PF groups; IL-6 and IL-10 in PV and PNP groups. Conclusion: Increased level of Tfh cytokines was observed in serum of AIBD patients, which suggests that Tfh cells have a possible role in AIBD pathogenesis.

Lichenoid type of paraneoplastic pemphigus associated with malignant thymoma

( Seh Hyun Park ),( Jee Eun Kim ),( Soo Chan Kim ) 대한피부과학회 2016 대한피부과학회 학술발표대회집 Vol.68 No.1

Paraneoplastic pemphigus (PNP) is a life-threatening autoimmune blistering skin disease characterized by severe mucosal erosions and various cutaneous lesions. Most reported cases of PNP are associated with hematological disorders including thymoma. Here, we report a case of paraneoplastic pemphigus associated with malignant thymoma showing complete remission after tumor resection. A 73-year old female patient presents with 2-years history of recurrent oral erosions and ulcerations, and newly developed erythematous macules on the whole body. Patient complained severe oral discomfort with loss of taste sensation. Imaging study revealed well-defined mass in anterior mediastinum suspicious of thymoma. Histopathology of skin revealed apoptotic keratinocytes, vacuolar interface dermatitis, and lichenoid inflammation, but showed no acntholysis. Direct immunofluorescence showed IgG deposition on the intercellular space with linear IgG, IgM and granular C3 deposition along the basement membrane zone. Indirect immunofluorescence using normal skin and rat bladder was negative. ELISA for desmoglein 1 and 3 were negative. The patient was diagnosed with PNP and surgical resection was done for the mediastinal tumor, later identified as invasive thymoma. Patient``s mucocutaneous lesions improved after surgical resection complete remission was maintained upon minimal therapy.

A case of neurofibromatosis type 1 showing pigmentary change with phylloid pattern

( Seh Hyun Park ),( Soo Chan Kim ) 대한피부과학회 2016 대한피부과학회 학술발표대회집 Vol.68 No.1

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans characterized by multiple cafe-au-lait spots and neurofibromas. Here, we report a case of NF 1 showing pigmentary change with phylloid pattern. A 29-year-old female presented with multiple cafe-au-late macules on the whole body with phylloid pattern since birth. The patient was preparing for pregnancy and wanted to know if her skin lesion will inherit to her descendant. Histopatholgy of the small cafe-au-lait macule showed increased pigmentation on the basal keratinocytes and histology of the large cafe-au-lait patch showed ill-defined spindle cell bundles on the deep dermis which are positive on S-100 stain. Based on clinical presentations and histopathologic results, she was diagnosed as NF 1.