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Background/Purpose: Phototherapy has emerged as a safe yet effective form of treatment of atopic dermatitis (AD). Few studies have been done to evaluate the efficacy of phototherapy in Asian children. The aim of this study was to review the phototherapy experience in a cohort of Asian pediatric patients with AD at a tertiary dermatologic center in Singapore. Methods: A retrospective study of patients 18 years and below with AD who had undergone phototherapy at KK Women's and Children's Hospital, Singapore, over a 4‐year period was performed. Results: Sixty‐two patients were identified, between ages 4 and 16 years (mean age 11 years) at the time of commencement of phototherapy. Thirty‐five (60%) patients were males and 23 (40%) were females. Most patients had moderate to severe disease, with 60.3% of the patients with an initial body surface area (BSA) involvement of 31%–60% and 13.8% of the patients with an initial BSA involvement of 61%–90%. For patients who had undergone narrowband ultraviolet B (NBUVB) and combined ultraviolet A (UVA) and NBUVB phototherapy, the mean reduction of the Eczema Area and Severity Index (EASI) scores were 11.4 and 7.9, respectively. Common side effects experienced include xerosis, pruritus, erythema, and pain. Other reasons for cessation of therapy in the NBUVB group included time commitment difficulty (9.3%), hyperactivity (2.3%), and claustrophobia (2.3%). Two patients that had photochemotherapy (psoralen + UVA) [PUVA] suffered from post‐UVA burns requiring cessation of treatment. More than half of the patients (56.9%) treated with phototherapy experienced treatment success with improvement in Investigator Global Assessment and EASI scores. 86.2% of the patients had good compliance to the treatment regime, 12% had poor‐compliance, and 3.4% were lost to follow‐up. Conclusion: Phototherapy is a useful treatment adjunct for moderate to severe AD in Asian children. [ABSTRACT FROM AUTHOR]

Simple Summary: Neurofibromatosis Type 1 is an inherited tumour predisposition syndrome with a varied clinical phenotype. Long-term monitoring through imaging is inconsistent and varies in high- and low-income countries. Implementation of a clinical practice guideline through a multidisciplinary clinic is instrumental to the care of adult Neurofibromatosis Type 1 patients. This systematic review aims to evaluate the association between a country's socioeconomic status and diagnostic modalities and strategies used for adult Neurofibromatosis Type 1 patients. Our results show multiple imaging modalities are used in high-income countries; however, there is limited use in low-income countries. The two most common diagnostic modalities used in developed countries are WB MRI and FDG PET/CT. Background: Neurofibromatosis Type 1 is an autosomal dominant tumour-predisposition condition commonly diagnosed in childhood and fully penetrant by adulthood. Long-term monitoring through imaging is inconsistent and varies between high- and low-income countries. Implementation of a clinical practice guideline through a multidisciplinary clinic is instrumental to the care of adult Neurofibromatosis Type 1 patients. We aim to systematically review international diagnostic modalities and strategies to evaluate any association between a country's socioeconomic status and diagnostic modalities or strategies used for Neurofibromatosis Type 1 patients. Methods: We searched PubMed, Embase, Web of Science, and Cochrane. Relevant clinical information on the surveillance of adult Neurofibromatosis Type 1 patients worldwide was reviewed, extracted, and synthesised. Results: We identified 51 papers reporting on 7724 individuals. Multiple imaging modalities are actively employed in high-income and upper-middle-income countries for surveying adult Neurofibromatosis Type 1 patients. We did not find any relevant papers from low- and middle-income countries. Conclusions: This systematic review suggests that there is robust data on diagnostic modalities for adult Neurofibromatosis Type 1 patients in high-income countries, but not for low- and middle-income countries. There is a lack of data on consolidated diagnostic strategies from both high- and low-income countries. Efforts should be made to publish data on usual clinical practice in low- and middle-income countries to develop clinical practice guidelines describing best medical practice to fit a local context. [ABSTRACT FROM AUTHOR]

In this work, a lightweight compliant glove that detects scratching using data from microtubular stretchable sensors on each finger and an inertial measurement unit (IMU) on the palm through a machine learning model is presented: the SensorIsed Glove for Monitoring Atopic Dermatitis (SIGMA). SIGMA provides the user and clinicians with a quantifiable way of assaying scratch as a proxy to itch. With the quantitative information detailing scratching frequency and duration, the clinicians would be able to better classify the severity of itch and scratching caused by atopic dermatitis (AD) more objectively to optimise treatment for the patients, as opposed to the current subjective methods of assessments that are currently in use in hospitals and research settings. The validation data demonstrated an accuracy of 83% of the scratch prediction algorithm, while a separate 30 min validation trial had an accuracy of 99% in a controlled environment. In a pilot study with children (n = 6), SIGMA accurately detected 94.4% of scratching when the glove was donned. We believe that this simple device will empower dermatologists to more effectively measure and quantify itching and scratching in AD, and guide personalised treatment decisions. [ABSTRACT FROM AUTHOR]

Background: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. Clinical diagnosis of the EB subtypes is frequently imprecise and requires confirmation with genetic testing. There is still limited study using genetic testing to identify EB subtypes in Indonesia. This study aims to identify the pathogenic variants of inherited EB patients at the Department of Dermatology and Venereology, Universitas Padjadjaran—Dr Hasan Sadikin General Hospital in Bandung, West Java, Indonesia and to describe the correlation between the phenotype and genotype of our patients. Methods: Twelve patients clinically diagnosed with EB were included in this study. Genetic testing was performed in collaboration with KK Women's and Children's Hospital, Singapore. Results: Pathogenic variants were identified in the COL7A1 gene in seven patients, namely Dominant Dystrophic EB (DDEB) with mutation types c.5945G>T, c.6218G>A, Recessive Dystrophic EB (RDEB) c.2005C>T, c.6081dup, c.1268C>T, c.1784C>T which are all known mutations. Novel mutations were found in the COL7A1 gene in two patients namely DDEB c.6253G>T and RDEB c.6740C>T. Two EB Simplex (EBS) patients showed mutation KRT14 gene as c.356T>C, c.373C>T which are known mutation. In addition, a novel mutation in LAMA3 gene c.2649del was found in one Junctional EB (JEB) patient. Conclusion: The molecular diagnoses of 12 Indonesian EB patients were identified, of which three were novel pathogenic variants. Concordance between the initial clinical diagnosis and genetic testing was only 33%. This demonstrated the importance of early genetic testing for accurate diagnosis, prognostication, management and genetic counselling. [ABSTRACT FROM AUTHOR]

The article discusses a case of epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation in a 17-year-old male. The patient presented with verrucous skin lesions over the foreskin, shaft, scrotum, and perineum, with histopathologic features consistent with epidermolytic hyperkeratosis. The mutation was found to be somatic and not present in the germline DNA, indicating a de novo occurrence. The article highlights the importance of genetic testing in cases of epidermal nevi with features of epidermolytic hyperkeratosis for accurate diagnosis and counseling on potential transmission risks. [Extracted from the article]

This article discusses the case of a 6-year-old girl with persistent exfoliative dermatitis. The girl presented with painful rashes on her neck, chest, axillary, and abdominal region, along with abdominal pain. Despite treatment for eczema, her condition did not improve. Further investigation revealed that she had a deficiency in vitamin B3 (niacin), leading to a diagnosis of pellagra. Treatment with oral niacinamide resulted in complete resolution of the rash and abdominal pain. Pellagra is a condition that was historically characterized by dermatitis, diarrhea, dementia, and death, but is now rare in developed countries due to fortification of flour with vitamin B3. However, it is still endemic in certain areas due to poor nutrition. [Extracted from the article]

Identification of mutations in I LAMB3 i indicates that both had JEB, the rarest form of EB.4 For generalized EB caused by mutations in I LAMB3 i which account for 80% of all laminin-322 mutations, having at least one missense mutation tends to be associated with the less severe intermediate non-Herlitz type. Dear Editor, Epidermolysis bullosa (EB) is a group of heterogeneous disorders involving fragility of epithelial tissues. [Extracted from the article]

Atopic dermatitis (AD) is a chronic inflammatory disease associated with pruritus and sleep loss. Pine-tar has long been used for various chronic skin conditions in which its polycyclic aromatic hydrocarbon (PAH) component is anti-inflammatory and its resin acids antiseptic. The null hypothesis of this trial is that there is no difference in clinical efficacy between a pine-tar product and its vehicle for AD. A 3-month, investigator-blinded, crossover, randomized control trial (RCT) was conducted in which each patient was assigned to bathing with pine-tar bath oil for one month and vehicle bath oil for another, with a washout period of 1-month in-between. Acceptability and efficacy of the bath products were measured. Disease severity scores (scoring atopic dermatitis (SCORAD) and patient-oriented eczema measure (POEM), quality of life questionnaires, noninvasive skin biophysiological measurements, blood IgE levels, and Staphylococcus aureus (SA) colonization status were assessed before and following bathing. Significant improvements were found in total SCORAD (p =.030), POEM (p =.004), SA colonization status (p =.002), and log-transformed IgE level (p =.009) among patients who bathed with pine-tar in the overall RCT study using intention-to-treat analysis. For per protocol analysis, significant improvements were found in total SCORAD (p =.024), objective SCORAD (p =.011), extent (p =.014), intensity (p =.032), pruritus (p =.047), POEM (p =.044), SA colonization status (p =.035), and log-transformed IgE level (p =.028). Acceptability to both bath-oils was good, and no product-related serious adverse events were recorded. Bathing with pine-tar is an efficacious and recommendable adjuvant practice for AD patients. Disease improvement is associated with reduction of SA and IgE. [ABSTRACT FROM AUTHOR]

Juvenile xanthogranuloma (JXG) is the most common non‐Langerhans cell histiocytic disorder. It can rarely be associated with systemic involvement. There is a paucity of literature on JXG in Asian children. We aim to describe the epidemiology, clinical features, systemic associations, histological features and outcome of a cohort of Asian children with JXG, and review the literature on the condition. We retrospectively reviewed the demographic, clinical and histological data of patients less than 16 years of age, diagnosed with JXG at our tertiary pediatric hospital between January 2002 and April 2019. A total of 147 children with JXG were identified, with a slight male preponderance of 53.1%. The median age of the onset was 15.5 months, with 69.4% presenting before 2 years of age. There was no racial predilection. The most frequently involved site was the head and neck region (44.2%). The majority of patients (76.2%) presented with a solitary lesion. Spontaneous resolution was documented in 57.7% of our patients with mean duration to resolution of 18.8 months. The proportion and speed of resolution did not differ in children with single or multiple lesions. No ophthalmologic complications were detected in our study cohort. JXG in children is generally limited to the skin and is rarely associated with systemic involvement, including the eye. Unless clinically indicated, the results from our study does not support routine screening for juvenile myelomonocytic leukemia, eye or systemic complications, even in the setting of multiple cutaneous JXGs. [ABSTRACT FROM AUTHOR]

Background: Pediatric allergic contact dermatitis (ACD) is increasingly prevalent. Patch testing is the gold‐standard diagnostic investigation. The aims of our study were to describe the clinical profile of pediatric patients with ACD in a multi‐ethnic Asian population and identify the common contact allergens. Methods: This was a retrospective study involving children and adolescents aged 16 years or younger with clinically suspected ACD who underwent patch testing between January 2007 and March 2020 at two institutions in Singapore. Information pertaining to their demographics, atopy history, clinical presentation, and patch test results was analyzed. Results: A total of 252 patients were included. The mean age was 10.9 years (1.0–16.7 years). The majority were Chinese (79.8%) and girls (57.5%). Many (66.3%) had atopic dermatitis (AD), which was mild. The most common presentation was an acral eczematous rash. The sensitization rate was 50.0%. The most frequent reactions were to nickel sulfate (49.2%) and fragrance mix (19.1%). The overall rate of relevant positive patch tests was 72.5%. Patients with AD were less likely to have a reaction to fragrance mix (p =.019) and more likely to have a reaction to disperse blue (p =.041). Compared to younger children, adolescents were less likely to have a positive patch test (p =.008). Indians were also less likely to have a positive reaction (p =.004). Conclusion: Metals and fragrances were the most common allergens causing childhood ACD in Singapore. Patients with AD were less likely to be sensitized to fragrances and more likely to be sensitized to disperse blue dye. [ABSTRACT FROM AUTHOR]

Background: CHILD syndrome is an X‐linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in females as it is lethal in males. Most cases present at birth with extensive unilateral ichthyosiform erythroderma involving the trunk and limbs. Milder and less extensive presentations have been reported, leading to misdiagnosis especially during early childhood. Methods and Results: We report an adult female of Malay ancestry who presented with minimal skin and limb involvement. She was only diagnosed in adulthood when she presented with gastrointestinal symptoms and worsening of skin manifestations. The clinical diagnosis was suspected after a combination of clinical, pathological and immunohistochemistry correlation, and molecularly confirmed with the discovery of a frameshift variant in NSDHL. The novel variant was inherited from her mother who had some linear hypopigmented patches over the medial aspects of both her arms and right forearm. Conclusion: We uncovered a novel frameshift variant associated with presentations that cast a new light on the clinical features of CHILD syndrome. [ABSTRACT FROM AUTHOR]

Adenoviruses are common viral pathogens in childhood; however, cutaneous manifestations are not well‐documented. We present a rare case of cutaneous adenovirus infection in a 23‐month‐old boy with a background of CD40 ligand deficiency, post bone marrow transplant. The clinical morphology of the skin lesions in our patient, described as skin‐colored papules with central crusting, has not been previously described and contributes to the growing literature of cutaneous adenovirus cases. [ABSTRACT FROM AUTHOR]

Background: Atopic dermatitis (AD) is a common, chronic dermatosis, with onset of disease often manifesting in early infancy. Past studies evaluating the early use of moisturisers in the prevention of AD had mixed results. Objectives: To compare the incidence of moderate or severe AD and total incidence of AD in a cohort of 'at‐risk' infants treated with moisturisers from the first 2 weeks of life, to a similar group without moisturisers. Methods: We performed a single‐centre, prospective, parallel‐group, randomised study in infants with at least 2 first‐degree relatives with atopy. Subjects were randomised into either a treatment group with moisturisers or a control group without moisturisers. Participants were assessed at 2, 6, and 12 months for AD and if present, the severity was assessed using SCORAD index. We also compared the overall incidence of AD, trans‐epidermal water loss (TEWL), stratum corneum (SC) hydration, pH, and incidence of food and environmental sensitisation and allergies between both groups. Genotyping for loss‐of‐functions mutations in the FLG gene was conducted. Results: A total of 200 subjects were recruited, with 100 subjects in each arm. There was no significant difference in incidence of moderate or severe AD, and total incidence of AD at 12 months between the treatment and control groups. There was a lower mean SCORAD in the treatment group than in the control group, but no significant difference in TEWL, SC hydration, and skin pH. No significant side‐effects were reported. Conclusions: The early use of moisturisers in 'at‐risk' infants does not reduce the incidence of moderate‐to‐severe AD and overall incidence of AD in infancy. [ABSTRACT FROM AUTHOR]

ABSTRACT Background Objective Methods Results Conclusion Atopic dermatitis (AD) is the most common chronic inflammatory skin disorder presenting in childhood. Dupilumab is the first approved biologic agent for the treatment of moderate‐to‐severe AD in pediatric populations. While generally well‐tolerated, dupilumab‐associated ocular surface disease (DAOSD) is a known complication. In severe cases, this may necessitate discontinuation of treatment.We aim to describe DAOSD in our cohort of Asian pediatric patients with moderate‐to‐severe AD on dupilumab.We performed a single‐center retrospective review of children and adolescents on dupilumab for moderate‐to‐severe AD who developed ophthalmological complications from 2019 to 2024. Most patients had prophylactic lubricant eyedrops. Data collected and analyzed included demographics, ophthalmologic findings, treatment, and outcomes of eye condition.Of 216 patients treated with dupilumab, 16 (7.4%) developed ophthalmologist‐diagnosed DAOSD. All patients had co‐existing eyelid or head and neck eczema while 31.3% of these patients had pre‐existing eye conditions. Eye redness (87.5%) was the most common presenting symptom, followed by pruritus (43.8%) and eye discharge (25%). The most common eye finding was conjunctivitis (87.5%), followed by limbitis (62.5%) and papillary reaction (62.5%). Two patients required temporary interruption of dupilumab. No patients required discontinuation of dupilumab treatment. The median time to resolution of eye complications was 14 weeks.In a real‐world setting, the incidence and severity of DAOSD in pediatric patients appears to be lower than that of adults. Prophylactic use of lubricant eye drops, close monitoring and early referral to pediatric ophthalmologists can help reduce the incidence of severe eye disease requiring discontinuation of dupilumab. [ABSTRACT FROM AUTHOR]

We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB‐PA) with minimal skin involvement but severe protein‐losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin β4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin β4 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin β4. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB. [ABSTRACT FROM AUTHOR]

Atopic dermatitis (AD) is a common, chronic, recurrent inflammatory skin disease. Poorly controlled AD can lead to reduced quality of life (QoL) and psychosocial impairment. Dupilumab is the first approved monoclonal antibody targeting type 2 inflammation, for adolescent and adult patients with moderate‐to‐severe AD. We performed a retrospective analysis of the efficacy and safety of dupilumab in a cohort of Asian children and adolescents with moderate‐to‐severe AD. Clinical response was documented with investigator global assessment (IGA) and eczema area and severity index (EASI) scores. Improvement in QoL was assessed using child dermatology life quality index (CDLQI) or Teenager's quality of life (T‐QoL), and caregivers' QoL was assessed using dermatitis family impact (DFI) questionnaire. Twelve patients were recruited, aged between 6 to 18 years of age (mean 13.3 years), with mean duration of AD of 9.8 years. At baseline, the mean IGA score was four and the mean EASI was 48.2. The mean T‐QoL and DFI scores at baseline were 18.7 and 19.6, respectively. After 12 to 16 weeks of treatment, the mean IGA score decreased to 2.2. The mean EASI decreased to 19.3 with mean reduction of 28.9. The mean T‐QoL decreased to 7.5 with mean reduction of 11.2, and the mean DFI decreased to 8.6 with mean reduction of 11. Adverse events included mild conjunctivitis in two patients and paradoxical head and neck erythema in one patient. Our study supports dupilumab as an effective and safe treatment option for Asian children and adolescents with moderate‐to‐severe AD. [ABSTRACT FROM AUTHOR]

Cellular neurothekeoma is a rare, benign cutaneous neoplasm. We report a case of cellular neurothekeoma arising on the mid‐back of a 10‐year‐old boy within the previous radiation therapy field for medulloblastoma. Clinical features of cellular neurothekeoma in children are similar to those in adults, except that there have been no reports of local recurrence in children following surgical excision, and the presence of atypical histological features does not predict clinical behavior. Recognition of this entity in children is important to avoid misdiagnosis and overly aggressive treatments. [ABSTRACT FROM AUTHOR]

Background: Acute generalized exanthematous pustulosis (AGEP) is a rare, severe, cutaneous adverse reaction. Although most commonly caused by drugs, it can also be triggered by infections, especially in children. Methods: This is a retrospective study involving children and adolescents aged 16 years or younger, diagnosed with AGEP between January 2010 and March 2020 in our tertiary pediatric hospital. Information pertaining to the patient's demographics, clinical presentation and progress, biochemical, microbiological, and histopathological investigations, treatment, and outcomes was analyzed. Results: Eight patients were diagnosed with AGEP with mean age 8.2 years (range: 1.7‐16.0 years). None of the patients had a personal or family history of psoriasis. Almost all patients had fever (n = 7, 87.5%). Although all 8 patients had intercurrent illness, 5 cases were attributed to infection, while the other 3 were likely precipitated by drugs. Abnormal hematological and biochemical parameters included a raised absolute neutrophil count (mean: 11.5 × 109/L, range: 5.0‐30.9 × 109/L), C‐reactive protein (mean: 52.5 mg/L, range: 5.0‐143.7 mg/L), and erythrocyte sedimentation rate (mean: 38.6 mm/h, range: 6‐64 mm/h). All patients developed post‐pustular desquamation and subsequently recovered. The mean duration from onset to cessation of acute pustulation was 5.6 days (range: 3.0‐10.0 days). One patient developed a recurrent episode of AGEP. Conclusion: AGEP is rare and may be more commonly caused by infections in children. The condition is self‐limiting with overall good outcomes in this age‐group. In cases with concomitant infection and drug use, formal allergy testing should be arranged after resolution of the infection to confirm the underlying etiology. [ABSTRACT FROM AUTHOR]

Introduction: Infantile haemangiomas (IH) are the most common vascular tumours in childhood. Over the past decade, treatment of IH has been revolutionised by the discovery of the effectiveness of beta-blockers in its treatment. We review our hospital's experience with oral propranolol in the treatment of IH in an Asian population.Methods: We performed a retrospective review of the medical records and clinical photos of paediatric patients with IH treated with propranolol in a tertiary paediatric hospital in Singapore from January 2010 to February 2015.Results: A total of 88 patients with IH treated with propranolol were identified over a five-year period, with 79 patients included in the final analysis. There was a predominance of female patients (75.9%) and preterm infants (41.8%) in our study population. The head and neck (65.8%), especially the orbital or preorbital region (45.6%), were the most common lesion sites in our cohort of patients. Mean age of onset was 2.3 ± 4.5 weeks of age, and mean age of starting propranolol treatment was 7.7 ± 10.5 weeks of age. 44.3% of patients experienced > 75% improvement, while 29.1% experienced improvement of 50%-75%. Response to treatment was influenced by the age of starting treatment.Conclusion: Our study provides further evidence of the efficacy and safety of propranolol in the treatment of IH in an Asian population. Early treatment is recommended for optimal results. [ABSTRACT FROM AUTHOR]

Objective: To test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian disorders.Methods: Next-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 216 patients who presented with suspected genetic disorders as assessed by their attending physicians.Results: There were 56 pathogenic and 36 likely pathogenic variants across 57 genes identified in 87 patients. Causal mutations were more likely to be truncating and from patients with a prior clinical diagnosis. Another 18 promising variants need further evaluation for more evidence to meet the requirement for potential upgrade to pathogenic. Forty-five of the 92 clinically significant variants were novel.Conclusion: The 40.3% positive yield compares favourably with similar studies using either this panel or whole exome sequencing, demonstrating that large gene panels could be a good alternative to whole exome sequencing for quick genetic confirmation of Mendelian disorders. [ABSTRACT FROM AUTHOR]