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Background@#Laugier-Hunziker syndrome (LHS) is a rare, benign, acquired disorder that is usually characterized by hyperpigmentation of the oral cavity and lips, along with longitudinal melanonychia. Till date, its characteristics have not been investigated in a large number of patients in a single-center study. @*Objective@#This study aimed to investigate the clinical, dermoscopic, and histological characteristics of LHS. @*Methods@#We retrospectively reviewed the medical records, biopsy specimens, and clinical and dermoscopic photographs of 21 patients diagnosed with LHS at Pusan National University Hospital (Busan and Yangsan) over a period of 15 years (2008∼2022). @*Results@#Among the 21 patients, 20 patients (95.2%) were female and one patient (4.8%) was male, and the mean age was 56.0 years (range: 18∼75 years). The lower lip (95.2%) was the most frequently affected oral mucosa, followed by the upper lip (81.0%), buccal mucosa (66.7%), tongue (57.1%), gingiva (42.9%), and palate (14.3%). The nails were the most commonly affected extraoral site, and in our study, eight of 21 patients (38.1%) presented with periungual lesions. Based on the dermoscopic findings, a globular pattern was the most common. Histologically, the lesions showed epithelial acanthosis and increased basal keratinocyte melanin without an increase in the number of melanocytes. @*Conclusion@#This is the first study to investigate the clinical, dermoscopic, and histological characteristics of patients with LHS. The results of this study could be helpful in understanding LHS.
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Congenital smooth muscle hamartoma is a benign proliferation of smooth muscles within the dermis. The classic form presents as well-defined, skin-colored, or hyperpigmented plaques associated with hypertrichosis. However, there have been reports of atypical forms, including a follicular spotted appearance, linear atrophic plaques, and morphea-like forms. In such cases, distinguishing congenital smooth muscle hamartomas from other cutaneous diseases can be challenging. Herein, we report on a 16-month-old boy who presented with a hypopigmented patch and hypertrichosis on his back since birth. Histopathological examination revealed mild acanthosis and well-defined smooth muscle bundles haphazardly oriented in the dermis. These bundles stained positively with Masson’s trichrome stain. Based on these findings, a definitive diagnosis of congenital smooth muscle hamartoma was established. In conclusion, an exceptionally rare case of congenital smooth muscle hamartoma with a hypopigmented appearance is reported.
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Background@#Female-pattern hair loss (FPHL) is characterized by diffuse hair thinning in the mid-frontal scalp and increased hair shedding. Although the use of low-dose oral minoxidil (LDOM) is increasing significantly in Korea, data on its use are limited. @*Objective@#To determine the efficacy and safety of LDOM in Korean patients with FPHL. @*Methods@#This retrospective, single-center study was conducted at Pusan National University Hospital. The study included female patients with pattern hair loss who received treatment with LDOM at 1.25 mg/d for a minimum of 6 months in combination with other treatments. Patients were eligible for LDOM addition if their previous treatments showed a limited response and the previous treatment regimen remained unchanged throughout the evaluation period. Clinical response to treatment was evaluated using the Sinclair hair loss severity scale. @*Results@#The study included 44 females with FPHL. Before treatment, the mean Sinclair scale score was 2.77, which decreased to 2.27 after treatment. By the 3rd month, one patient (2.3%) experienced worsening, while seven patients (15.9%) showed slight improvement. By the 6th month, the treatment response was as follows: stabilization in 30 patients (68.2%), slight improvement in 13 patients (29.5%), and substantial improvement in one patient (2.3%). Adverse effects, predominantly hypertrichosis, were observed in nine patients. All adverse effects improved upon discontinuation of LDOM and no life-threatening adverse effects were observed during the study. @*Conclusion@#This study provides evidence that LDOM can be an effective therapeutic option with a good safety profile for FPHL.
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Giant cellulitis-like Sweet syndrome (GCS) is the most recently defined variant of Sweet syndrome (SS) which could clinically mimic wide-spreading cellulitis. Although there has been only paucity of reports in the literature, it mostly appears at lower half of the body and histologically shows dense infiltration of neutrophils with occasional histiocytoid mononuclear cells. Although its exact etiology has not been clarified, abnormal conditions (e.g., infection, malignancy and drugs) could be related triggering factors and trauma itself can be one of the causative elements as a ‘pathergy phenomenon’. GCS could be confusing manifestation especially when appeared in postoperative condition. A 69-year-old female presented with an erythematous edematous papules and plaques on the right thigh after varicose vein surgery. Skin biopsy revealed diffuse neutrophilic infiltrates that was consistent with SS. To our knowledge, there has been no report of GCS as a postoperative complication after varicose vein surgery. Physicians should be aware of this uncommon reactive neutrophilic dermatoses mimicking infectious cutaneous disease.
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Background@#Patients with long-standing psoriasis who are not treated with conventional medicine seek complementary and alternative medicine (CAM). The biological revolution in the field of psoriasis since the late 2000s has progressed, expecting clearance or almost clearance of the disease. The frequency and type of CAM usage may have changed after these advances. We aimed to investigate changes in CAM use in Korean patients with psoriasis before and after the prevalent use of biologics. @*Methods@#Patients with psoriasis who visited Pusan National University Hospitals (Busan and Yangsan) between March 2020 and June 2022 were made to complete a face-to-face structured questionnaire. These results were compared with our previous study conducted approximately 10 years ago. @*Results@#In total, 207 patients were included. Compared with the previous results, the frequency of CAM use (67.6%) increased (P < 0.001). Oriental medicine (67.1%) has most commonly been used, followed by health supplements and bath therapy. The biggest reason for using CAM was “to try all the potential treatments.” Meanwhile, negative concerns about conventional medicine (13.5%) significantly decreased during the 10-year period (P < 0.001). @*Conclusion@#Although treatment efficacy has increased with biologics development, CAM usage remains prevalent among Korean patients with psoriasis. Therefore, dermatologists need more efforts to improve patients’ understanding of conventional medicine, including biologics.
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Hystrix-like ichthyosis and deafness (HID) syndrome is a rare ectodermal dysplasia characterized by erythrokeratoderma and hearing impairments. HID syndrome is a nonocular variant of keratitis ichthyosis deafness (KID) syndrome caused by an autosomal dominant mutation in the gap junction protein β 2 (GJB2) gene. The GJB2 gene encodes connexin 26, a transmembrane protein involved in cell–cell attachment in almost all tissues. We report a case of a 25-year-old man with generalized hyperkeratotic plaques, diffuse palmoplantar keratoderma, and nail deformities since birth. The patient also had a history of recurrent bacterial skin infections in the existing hyperkeratotic lesions. Histopathological examination revealed compact hyperkeratosis and irregular acanthosis in the epidermis, along with upper dermal lymphocytic infiltration. Audiometry revealed high-frequency sensorineural hearing loss. Genetic analysis revealed a missense mutation in the GJB2 gene. Based on clinicopathological findings and genetic testing, HID syndrome was diagnosed.
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Weathering nodules are benign skin conditions of the ear typically occurring in patients with a history of persistent sun exposure. Clinically, they appear as multiple localized, skin-colored to whitish papules or nodules in the ear helix. Histopathologically, weathering nodules are characterized by chondroid metaplasia with spurs of fibrous tissue extending upward from the disrupted perichondrium of the underlying pinna cartilage. We report the case of a 19-year-old man who presented with multiple localized whitish papules on the right ear helix for a month. The lesions were asymptomatic and accompanied by a blanch sign. Histopathological examination revealed chondroid metaplasia in the dermis, separate from the pinna cartilage. Based on the clinicopathological findings, weathering nodules of the ear was diagnosed.
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Psoriasis is a common immune-mediated skin disease. Myasthenia gravis and Graves’ disease are autoimmune diseases caused by autoantibodies against receptors located at the neuromuscular junction and thyroid-stimulating hormone receptor, respectively. A 29-year-old male presented with recurrent multiple erythematous scaly papules and plaques on his legs that had persisted for 3 years. A diagnosis of plaque psoriasis was made based on clinicopathological findings. The patient had a 26-year history of ocular myasthenia gravis, for which he had not been received any specific treatment. He also had a long history of Graves’ disease. To the best of our knowledge, psoriasis with myasthenia gravis and Graves’ disease has not been reported previously in the literature. Herein, we describe our examination of the causes of concurrent psoriasis, myasthenia gravis, and Graves’ disease.
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Acanthosis nigricans (AN) is characterized by velvety hyperpigmented plaques, usually observed in skin folds. The different types of the condition include obesity-associated, syndromic, drug-induced, malignancy-related, and other types of AN. AN, an FGFR3 gene mutation-related disease, is associated with varying degrees of skeletal disorders. FGFR3 gene mutations are known to cause excessive inhibition of chondrocyte growth and keratinocyte proliferation, which is responsible for AN development. To our knowledge, only a small number of cases of AN with hypochondroplasia due to FGFR3 gene mutation (p.Lys650Thr) have been described in the literature. However, there are no reports of genetically confirmed AN with hypochondroplasia in Korea. Physicians should consider syndromic AN when symptoms develop at an early age or when associated skeletal anomalies are present.
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Dupilumab, a human monoclonal antibody targeting the interleukin-4 receptor α, has exhibited rapid and remarkable therapeutic efficacy in numerous clinical trials focusing on moderate-to-severe atopic dermatitis and prurigo nodularis. Nonetheless, instances of mycosis fungoides have been reported in patients undergoing dupilumab treatment for atopic dermatitis. We present two cases: a 36-year-old woman and a 64-year-old man who presented to our dermatology clinic with erythematous papules and plaques. Following skin biopsy, both patients were diagnosed with chronic eczematous dermatitis with prurigo. Erythematous plaques notably increased after 9 months and 1 month of dupilumab treatment, respectively. Subsequent biopsies confirmed histopathological markers consistent with mycosis fungoides. The first patient underwent chemotherapy for lymph node metastasis, while the second received oral acitretin, narrow-band ultraviolet B, and topical corticosteroids.
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Background@#Topical medications play a crucial role in the treatment of atopic dermatitis (AD). Topical corticosteroids (TCSs) remain the main treatment of choice and topical antibiotics have also been used. However, with the new topical calcineurin inhibitors (TCIs), the prescription patterns of topical agents have changed over time. @*Objective@#To characterize the prescription patterns of topical medications in Korean patients with AD. @*Methods@#We investigated topical medications prescribed to Korean patients with AD using the National Health Insurance Sharing System (NHISS) database over a 14-year period (2002~2015). Additionally, the potency of prescribed TCSs was compared with AD and psoriasis patients. @*Results@#The annual prescription of TCSs showed a slightly decreasing trend without significant change. In particular, in terms of steroid class, prescription of moderate-to-low potency TCSs were increased and the use of high potency TCSs were decreased. TCSs were the most commonly prescribed topical medications for AD. Tertiary hospitals had a higher prescription rate for TCIs than secondary or primary hospitals (16.2%, 3.1%, and 1.9%, respectively). Additionally, dermatologists prescribed TCIs more frequently than pediatricians and internists (4.3%, 1.2%, and 0.6%, respectively). Among TCSs, Class 5 was prescribed the most (40.6%) followed by Class 7, 6, 4, 3, 1, and 2. When we compared the potency of TCSs prescribed for AD with psoriasis patients, moderate-to-low-potency TCSs were more commonly prescribed in AD. @*Conclusion@#Prescription patterns of topical medications had changed from 2002 to 2015 and differed according to the type of institution and specialty of the physician.
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Background@#Psoriasis localized to certain body areas, such as the scalp, nails, palms, soles, intertriginous regions, and genital regions, is reportedly difficult to treat. @*Objective@#To investigate the biologics-resistant areas in South Korean patients with psoriasis treated with biologics. @*Methods@#The study included 50 patients with chronic moderate to severe plaque psoriasis from the Pusan National University Hospital and Chosun University Hospital between October 2019 and September 2020. The patients had at least one psoriatic lesion, were treated with biologics for more than six months, and exhibited a partial or good response (reaching a Psoriasis Area and Severity Index [PASI] score of 1~5 after biologics treatment). @*Results@#A total of 50 patients with psoriasis (32 male, mean±standard deviation 47.8±11 years), with a median PASI score of 1.8, were included. The most common biologics-resistant areas were the anterior lower leg (56.0%), followed by the knee (48.0%) and posterior lower leg (42.0%). The proportion of biologics-resistant areas were obtained for body regions traditionally considered as difficult-to-treat entities, including the fingernails (10.0%), toenails (14.0%), scalp (38.0%), palm (12.0%), sole (14.0%), and genital areas (10.0%). @*Conclusion@#This study determined the biologics-resistant areas in South Korean patients, successfully treated with biologics, in a real-world clinical setting.
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Psoriasis is a common immune-mediated, inflammatory skin disease. However, unilateral psoriasis is rare and few cases have been reported. A 59-year-old male with a polio-affected right leg presented with exfoliative skin on the left leg for three months. He had been treated under the diagnosis of contact dermatitis with secondary infection. After the exfoliative skin lesions improved, psoriatic papules were noted, which was ultimately diagnosed as psoriasis and successfully treated with topical steroid and vitamin D agents. We propose that the Koebner phenomenon has acted as the triggering and aggravating factor of unilateral psoriasis in this patient.
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The phenotypic variability of variant Turner syndrome is wide, ranging from characteristic clinical features to those that are hardly distinguishable from the general population. A 4-year-old girl presented with multiple brownish macules and patches on the trunk and upper extremities as well as axillary freckles. Exome sequencing and chromosomal microarray testing revealed a microdeletion at Xp22.33p22.11 leading to a diagnosis of Turner syndrome. Here we describe an unusual case of variant Turner syndrome with multiple café-au-lait spots.
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Background@#Pigmented fungiform papillae of the tongue (PFPT) is a rare benign pigmentary disorder of the tongue. In dark-skinned individuals, PFPT appears to be relatively common. However, limited data exist on PFPT in Korean patients. @*Objective@#We aimed to investigate the clinical characteristics of PFPT in Korean patients. @*Methods@#Patients diagnosed with PFPT between 1995 and 2021 at the Pusan National University Hospital were included. Clinical characteristics of PFPT, dermoscopic findings, and comorbidities were reviewed. @*Results@#A total of 19 patients diagnosed with PFPT were enrolled. The male to female ratio was approximately 1:5. The mean age at diagnosis was 41.1 years (range, 8~67 years). According to Holzwanger’s classification, Type I was the most common (89.5%). PFPT was commonly concomitant with pigmentary disorders, including mucosal melanotic macules, Laugier-Hunziker syndrome, melasma, and melanonychia (6/19, 31.6%). Preceding oral infection or inflammatory lesions were found in four patients (21.1%), and systemic diseases and infectious diseases existed in two patients (10.5%). Dermoscopic examination was performed in seven patients; pigmented border with dichotomized vessels (rose petal pattern, 71.4%) and diffuse pigmentation (cobblestone pattern, 71.4%) were common findings. @*Conclusion@#Our study shows PFPT can coexist with pigmentary disorders. Concomitant pigmentary disorder shows an association with sex hormone or susceptibility to abnormal pigmentation may be a possible cause of PFPT.
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Background@#Scar sarcoidosis (SS), a rare form of cutaneous sarcoidosis, develops from preexisting scars. Owing to its rarity, the clinicopathologic features and its significance in clinical prognosis have been obscure. @*Objective@#This study aimed to investigate clinical, laboratory and histopathologic findings and to clarify characteristics associated with the development of SS and systemic involvement. @*Methods@#We retrospectively assessed clinical, laboratory and histopathologic findings of SS. Clinical factors including demographics, anatomic area, number of lesion (single, multiple), presence of symptoms, latent period, injury types related to scar and the proportion of systemic involvement were investigated. @*Results@#Of the 21 patients with SS, skin lesions appeared predominantly in females (85.7%) and in the head and neck (57.1%). The mean latent period was 163.5 months and 13 patients (61.9%) had multiple lesions. Injury types were varied, with no specific type identified as associated with SS. Histologically, discrete sarcoidal granulomas surrounded by densely packed collagen bundles with a thickening of numerous fibers were observed. Ten patients (47.6%) had systemic involvement and showed significantly more of the multiple lesions, longer latent period and higher level of mean serum angiotensin-converting enzyme than those without systemic involvement. @*Conclusion@#Various causes of scar were related to SS, but no specific injury type was identified as leading to SS. Although the exact pathomechanism remains unclear, the possibility of systemic involvement could be considered when the patients have multiple lesions, longstanding scars, and elevated serum angiotensin-converting enzyme.
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Large-cell transformation of mycosis fungoides (LCT-MF) is an advanced stage of primary cutaneous T-cell lymphoma with a poor prognosis. Therapeutic options for these patients are often limited, and so far, they are not promising. An 81-year-old woman with a previous history of mycosis fungoides presented with aggravation of generalized erythematous scaly patches and new onset of ulcerated tumor on the abdomen for 3 months.Histopathological examination revealed a dense dermal infiltrate composed of atypical large lymphocytes. Immunohistochemically, the tumor cells were positive for CD30 expression. A diagnosis of CD30＋ LCT-MF was established. She was intensively treated with methotrexate (1 month), acitretin (1 month), and rituximab with dose-modified cyclophosphamide, doxorubicin, and prednisone (1 cycle). Despite such treatments, the improvement was minimal. Subsequently, the patient was started on brentuximab vedotin, 1.8 mg/kg intravenously once every 3weeks. She responded well to brentuximab therapy, and the skin lesions completely subsided within 12 weeks of treatment.
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Background@#Ustekinumab is a humanized monoclonal antibody targeting interleukin (IL)-12 and IL-23. Although popular, data on its long-term efficacy and safety in Korean patients with psoriasis are limited. @*Objective@#To evaluate the long-term efficacy and safety of ustekinumab in Korean patients with psoriasis. @*Methods@#A retrospective study in patients with moderate-to-severe psoriasis who had been treated with ustekinumab for at least 5 years was conducted. The sex, age, body mass index, medical records, previous psoriasis therapy, psoriasis area and severity index (PASI) scores, and adverse events were evaluated. @*Results@#Twenty-five patients (median age 47.00 years) had been treated with ustekinumab for 5 years. The mean duration of psoriasis was 19.12±8.45 years, and the treatment duration with ustekinumab was 285.12±8.48 weeks. The baseline PASI was 17.52±7.38. PASI75 was achieved in 84% of the patients at week 28, and 96% of the patients maintained PASI75 during the 5-year follow-up period. Furthermore, 56% of patients reached PASI90 at 28 weeks, and 48% of patients maintained PASI90 for 5 years. No unexpected adverse events other than herpes zoster, herpes simplex, or elevated liver enzymes were reported. @*Conclusion@#Ustekinumab demonstrated long-lasting efficacy with an acceptable safety profile in Korean patients with moderate-to-severe psoriasis.
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Background@#Ultrasonography (US) is a simple and reliable tool that can aid in the diagnosis of benign subcutaneous lesions such as epidermal cysts and lipomas. @*Objective@#This study aimed to determine the efficacy of US for the differential diagnosis of epidermal cysts and lipomas. @*Methods@#A retrospective study of 100 patients with epidermal cysts (n=45) or lipomas (n=55) who underwent US and then received a pathological diagnosis in the dermatology department of Pusan National University Hospital was conducted. @*Results@#US and clinical impressions accurately diagnosed the epidermal cysts in 90.0% and 88.0% of the patients, respectively, and the lipomas in 92.0% and 88.0% of the patients, respectively. US combined with clinical impression significantly increased the diagnostic yield of epidermal cysts (98%) and lipomas (99%). On US, the frequency of posterior acoustic enhancement was higher for the epidermal cysts than for the lipomas (82.2% and 29.1%, respectively; p＜0.001), and striated echoes such as internal linear echogenic reflections and dark clefts were more frequently found in the lipomas than in the epidermal cysts (90.9% and 6.7%, respectively; p＜0.001). @*Conclusion@#This study implies that the diagnostic role of US can be greatly enhanced by knowledge of the clinical presentation.
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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.