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1.
Korean Journal of Dermatology ; : 575-581, 2023.
Article in English | WPRIM | ID: wpr-1002199

ABSTRACT

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.

2.
Korean Journal of Dermatology ; : 299-302, 2023.
Article in English | WPRIM | ID: wpr-1002189

ABSTRACT

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.

3.
Korean Journal of Dermatology ; : 368-370, 2023.
Article in English | WPRIM | ID: wpr-1002174

ABSTRACT

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.

4.
Korean Journal of Dermatology ; : 371-373, 2023.
Article in English | WPRIM | ID: wpr-1002173

ABSTRACT

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.

5.
Journal of Korean Medical Science ; : e287-2023.
Article in English | WPRIM | ID: wpr-1001229

ABSTRACT

Background@#Although it is known that a substantial proportion of the population experience loneliness, the consequence of loneliness remains unclear by countries and ages.Accordingly, this study aimed to assess the association between loneliness and suicidality in the general population of Korea.Method: A total of 5,511 Koreans aged 18–79 completed a tablet-assisted personal interview using the Korean version of the Composite International Diagnostic Interview and responded to questions about loneliness and lifetime suicidal ideation, plans, and attempts. A logistic regression analysis was used to examine the association between loneliness and suicidality. @*Results@#Approximately one-third of the Korean general population reported loneliness.Being older, never married, widowed, separated, or divorced, unemployed, and having a parttime job were all significantly related to loneliness. After adjusting for sociodemographic factors, individuals with loneliness were significantly associated with increased suicidal ideation (adjusted odd ratio [aOR], 4.05; 95% confidence interval [CI], 3.36–4.88), suicidal plans (aOR, 4.91; 95% CI, 3.34–7.21), and suicidal attempts (aOR, 4.82; 95% CI, 3.03–7.66). Even after adjusting for sociodemographic factors and mental disorders, suicidality remained statistically significant. Moreover, frequent, moderate-to-severe, and long-term loneliness were all associated with increased ORs for suicidality, regardless of sociodemographic factors and mental disorders. @*Conclusion@#Loneliness was associated with suicidal ideation, plans, and attempts. This study lays the foundation for public health policymakers to establish early intervention and mental health care support for lonely people.

6.
Journal of Korean Medical Science ; : e204-2023.
Article in English | WPRIM | ID: wpr-1001090

ABSTRACT

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.

7.
Korean Journal of Dermatology ; : 244-247, 2023.
Article in English | WPRIM | ID: wpr-977204

ABSTRACT

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.

8.
Annals of Dermatology ; : 6-10, 2023.
Article in English | WPRIM | ID: wpr-976623

ABSTRACT

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.

9.
Annals of Dermatology ; : 107-115, 2023.
Article in English | WPRIM | ID: wpr-976605

ABSTRACT

Background@#Psoriasis imposes a significant treatment burden on patients, particularly impacting well-being and quality of life (QoL). The psychosocial impact of psoriasis treatments remains unexplored in most patient populations. @*Objective@#To assess the impact of adalimumab on health-related QoL (HRQoL) in Korean patients with psoriasis. @*Methods@#This 24-week, multicenter, observational study, assessed HRQoL in Korean patients treated with adalimumab in a real-world setting. Patient-reported outcomes (PROs) including European Quality of Life-5 Dimension scale (EQ-5D), EQ-5D VAS, SF-36, and DLQI were evaluated at week 16 and 24, versus baseline. Patient satisfaction was assessed using TSQM. @*Results@#Among 97 enrolled patients, 77 were assessed for treatment effectiveness. Most patients were male (52, 67.5%) and mean age was 45.4 years. Median baseline body surface area and Psoriasis Area and Severity Index (PASI) scores were 15.00 (range 4.00~80.00) and 12.40 (range 2.70~39.40), respectively. Statistically significant improvements in all PROs were observed between baseline and week 24. Mean EQ-5D score improved from 0.88 (standard deviation [SD], 0.14) at baseline to 0.91 (SD, 0.17) at week 24 (p=0.0067). The number of patients with changes in PASI 75, 90, or 100 from baseline to week 16 and 24 were 65 (84.4%), 17 (22.1%), and 1 (1.3%); and 64 (83.1%), 21 (27.3%), and 2 (2.6%), respectively. Overall treatment satisfaction was reported, including effectiveness and convenience. No unexpected safety findings were noted. @*Conclusion@#Adalimumab improved QoL and was well-tolerated in Korean patients with moderate to severe psoriasis, as demonstrated in a real-world setting. Clinical trial registration number (clinicaltrials.gov: NCT03099083).

10.
Annals of Dermatology ; : 124-131, 2023.
Article in English | WPRIM | ID: wpr-976603

ABSTRACT

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.

11.
Annals of Dermatology ; : 151-154, 2023.
Article in English | WPRIM | ID: wpr-976599

ABSTRACT

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.

12.
Tissue Engineering and Regenerative Medicine ; (6): 389-409, 2023.
Article in English | WPRIM | ID: wpr-1003159

ABSTRACT

Various immune cells participate in repair and regeneration following tissue injury or damage, orchestrating tissue inflammation and regeneration processes. A deeper understanding of the immune system’s involvement in tissue repair and regeneration is critical for the development of successful reparatory and regenerative strategies. Here we review recent technologies that facilitate cell-based and biomaterial-based modulation of the immune systems for tissue repair and regeneration. First, we summarize the roles of various types of immune cells in tissue repair. Second, we review the principle, examples, and limitations of regulatory T (Treg) cell-based therapy, a representative cell-based immunotherapy.Finally, we discuss biomaterial-based immunotherapy strategies that aim to modulate immune cells using various biomaterials for tissue repair and regeneration.

13.
Psychiatry Investigation ; : 853-860, 2023.
Article in English | WPRIM | ID: wpr-1002759

ABSTRACT

Objective@#The Patient Health Questionnaire–9 (PHQ-9) and PHQ-2 have not been validated in the general Korean population. This study aimed to validate and identify the optimal cutoff scores of the PHQ-9 and PHQ-2 in screening for major depression in the general Korean population. @*Methods@#We used data from 6,022 participants of the Korean Epidemiological Catchment Area Study for Psychiatric Disorders in 2011. Major depression was diagnosed according to the Korean Composite International Diagnostic Interview. Validity, reliability, and receiver operating characteristic curve analyses were performed using the results of the PHQ-9 and Euro Quality of life-5 dimension (EQ-5d). @*Results@#Of the 6,022 participants, 150 were diagnosed with major depression (2.5%). Both PHQ-9 and PHQ-2 demonstrated relatively high reliability and their scores were highly correlated with the “anxiety/depression” score of the EQ-5d. The optimal cutoff score of the PHQ-9 was 5, with a sensitivity of 89.9%, specificity of 84.1%, positive predictive value (PPV) of 12.6%, negative predictive value (NPV) of 99.7%, positive likelihood ratio (LR+) of 5.6, and negative likelihood ratio (LR-) of 0.12. The optimal cutoff score of the PHQ-2 was 2, with a sensitivity of 85.3%, specificity of 83.2%, PPV of 11.6%, NPV of 99.5%, LR+ of 5.1, and LR- of 0.18. @*Conclusion@#The PHQ-9 and PHQ-2 are valid tools for screening major depression in the general Korean population, with suggested cutoff values of 5 and 2 points, respectively.

14.
Psychiatry Investigation ; : 262-272, 2023.
Article in English | WPRIM | ID: wpr-968559

ABSTRACT

Objective@#Mental health is a global concern and needs to be studied more closely. We aimed to estimate the prevalence of mental disorders and their associated factors among the general population in Korea. @*Methods@#The National Mental Health Survey of Korea 2021 was conducted between June 19 and August 31, 2021 and included 13,530 households; 5,511 participants completed the interview (response rate: 40.7%). The lifetime and 12-month diagnosis rates of mental disorders were made using the Korean version of the Composite International Diagnostic Interview 2.1. Factors associated with alcohol use disorder (AUD), nicotine use disorder, depressive disorder, and anxiety disorder were analyzed, and mental health service utilization rates were estimated. @*Results@#The lifetime prevalence of mental disorders was 27.8%. The 12-month prevalence rates of alcohol use, nicotine use, depressive, and anxiety disorders were 2.6%, 2.7%, 1.7%, and 3.1%, respectively. The risk factors associated with 12-month diagnosis rates were as follows: AUD: sex and age; nicotine use disorder: sex; depressive disorder: marital status and job status; anxiety disorder: sex, marital status, and job status. The 12-month treatment and service utilization rates for 12-month AUD, nicotine use disorder, depressive disorder, and anxiety disorder were 2.6%, 1.1%, 28.2%, and 9.1%, respectively. @*Conclusion@#Approximately 25% of adults in the general population were diagnosed with mental disorders during their lifetime. The treatment rates were substantially low. Future studies on this topic and efforts to increase the mental health treatment rate at a national level are needed.

15.
Psychiatry Investigation ; : 44-53, 2022.
Article in English | WPRIM | ID: wpr-918748

ABSTRACT

Objective@#This study aims to investigate the prevalence of the addictive use of the internet, smartphone, and alcohol in medical students, the association of this addictive use with stress, and the mediating roles of resilience and self-esteem in this association. @*Methods@#A total of 866 medical students completed measures of three addictive uses as well as psychological scales for stress, resilience, and self-esteem. Correlation analyses and parallel mediation analysis were carried out. @*Results@#The prevalence of potential-risk and high-risk users was 5.8% and 1.7% for internet use, 5.4% and 2.2% for smartphone use, 22.6% and 5.3% for alcohol use, respectively. All three addictive behaviors tended to increase in terms of prevalence or mean score according to an increase in a students’ grade. Stress was positively correlated with internet use (r=0.324, p<0.001) and smartphone use (r=0.347, p<0.001). Resilience and self-esteem were found to be mediators in the association between stress and internet use or smartphone use. @*Conclusion@#These findings suggest that addictions in medical students are as prevalent as in a general population and that internet use and smartphone use may be better explained by a stress-addiction model with resilience and self-esteem as mediators than alcohol use.

16.
Blood Research ; : 144-151, 2022.
Article in English | WPRIM | ID: wpr-937245

ABSTRACT

Background@#Nilotinib is a tyrosine kinase inhibitor approved by the Ministry of Food and Drug Safety for frontline and 2nd line treatment of Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML). This study aimed to confirm the safety and efficacy of nilotinib in routine clinical practice within South Korea. @*Methods@#An open-label, multicenter, single-arm, 12-week observational post-marketing surveillance (PMS) study was conducted on 669 Korean adult patients with Ph + CML from December 24, 2010, to December 23, 2016. The patients received nilotinib treatment in routine clinical practice settings. Safety was evaluated by all types of adverse events (AEs) during the study period, and efficacy was evaluated by the complete hematological response (CHR) and cytogenetic response. @*Results@#During the study period, AEs occurred in 61.3% (410 patients, 973 events), adverse drug reactions (ADRs) in 40.5% (271/669 patients, 559 events), serious AEs in 4.5% (30 patients, 37 events), and serious ADRs in 0.7% (5 patients, 8 events). Furthermore, unexpected AEs occurred at a rate of 6.9% (46 patients, 55 events) and unexpected ADRs at 1.2% (8 patients, 8 events). As for the efficacy results, CHR was achieved in 89.5% (442/494 patients), and minor cytogenetic response or major cytogenetic response was achieved in 85.8% (139/162 patients). @*Conclusion@#This PMS study shows consistent results in terms of safety and efficacy compared with previous studies. Nilotinib was well tolerated and efficacious in adult Korean patients with Ph + CML in routine clinical practice settings.

17.
The Korean Journal of Pain ; : 209-223, 2022.
Article in English | WPRIM | ID: wpr-927056

ABSTRACT

Background@#The coronavirus disease 2019 (COVID-19) pandemic has caused significant changes. This study aimed to investigate the impact of COVID-19 on patients with chronic pain. @*Methods@#Patients with chronic pain from 23 university hospitals in South Korea participated in this study. The anonymous survey questionnaire consisted of 25 questions regarding the following: demographic data, diagnosis, hospital visit frequency, exercise duration, time outside, sleep duration, weight change, nervousness and anxiety, depression, interest or pleasure, fatigue, daily life difficulties, and self-harm thoughts. Depression severity was evaluated using the Patient Health Questionnaire-9 (PHQ-9). Logistic regression analysis was used to investigate the relationship between increased pain and patient factors. @*Results@#A total of 914 patients completed the survey, 35.9% of whom had decreased their number of visits to the hospital, mostly due to COVID-19. The pain level of 200 patients has worsened since the COVID-19 outbreak, which was more prominent in complex regional pain syndrome (CRPS). Noticeable post-COVID-19 changes such as exercise duration, time spent outside, sleep patterns, mood, and weight affected patients with chronic pain. Depression severity was more significant in patients with CRPS. The total PHQ-9 average score of patients with CRPS was 15.5, corresponding to major depressive orders. The patients’ decreased exercise duration, decreased sleep duration, and increased depression were significantly associated with increased pain. @*Conclusions@#COVID-19 has caused several changes in patients with chronic pain.During the pandemic, decreased exercise and sleep duration and increased depression were associated with patients’ increasing pain.

18.
Korean Journal of Dermatology ; : 228-234, 2022.
Article in English | WPRIM | ID: wpr-926638

ABSTRACT

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.

19.
Annals of Dermatology ; : 34-39, 2022.
Article in English | WPRIM | ID: wpr-913469

ABSTRACT

Background@#Pigmented purpuric dermatosis (PPD) is a chronic disorder characterized by distinct petechial hemorrhage and brownish pigmentation. The cause of PPD is unclear, but several underlying conditions are associated with it. Previous reports suggest that venous insufficiency (VI) might be related to PPD; however, a clear correlation remains unelucidated. @*Objective@#To elucidate the causal relationship between PPD and VI. @*Methods@#A total 118 patients diagnosed with PPD in the Department of Dermatology, Pusan National University Hospital from November 2006 to July 2019 were retrospectively reviewed. Doppler ultrasonography of the lower extremities was performed in 56 PPD patients, who were then divided into two groups: PPD with and without VI. We compared the clinical features between the two groups. In the PPD with VI group, we assessed the correspondence ratios between PPD and VI lateralities, and between the PPD distribution and the veins involved. @*Results@#VI was detected in 35 of the 56 patients (62.5%). The PPD with VI group was significantly associated with wider distribution, darker coloration and longer disease duration. There was a positive correlation of laterality between PPD and VI, and between PPD distribution and the vein involved. @*Conclusion@#This findings suggest that VI is a clear provoker of PPD.

20.
Annals of Dermatology ; : 59-62, 2022.
Article in English | WPRIM | ID: wpr-913465

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.

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