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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]

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]

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]

A quiz related to the case of a 43 year old Chinese woman diagnosed with carcinoma of her left breast in September 2005 and underwent a left skin-sparing mastectomy.

Vascular anomalies consist of tumours or malformations made up of abnormal growth or collections of blood vessels that can result in functional or cosmetic problems. While many vascular anomalies are present at birth, some do not appear until later in life, making diagnosis more challenging. Although many vascular anomalies are benign, some are associated with serious complications and may involve multiple organ systems. This article highlights the important features of clinically significant vascular anomalies to help physicians promptly identify and refer these cases to a specialised multidisciplinary team for evaluation and management. The discussion includes the various presenting complaints of vascular anomalies in children, namely, rapidly growing birthmarks, painful lesions, seizures/neurological manifestations, bleeding diathesis, cardiac/airway abnormalities and part of an overgrowth syndrome., Competing Interests: None

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., (Copyright: © Singapore Medical Association.)

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration and sepsis. Mortality rates of babies with HI have been greatly reduced since the introduction of systemic retinoid therapy. Mutations in ABCA12 have been found to lead to HI. Most of these mutations are truncation or deletion mutations in the conserved region of the protein, leading to severe loss of ABCA12 function. We report a case of HI caused by a compound heterozygous mutation (a known single nucleotide deletion and a novel single nucleotide substitution) in the ABCA12 gene., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)