Shwachman-Diamond Syndrome Presenting as Neonatal Ichthyosis.

Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome characterized by the triad of exocrine pancreatic dysfunction, cytopenia, and skeletal abnormalities. We report a 5-month-old boy with SDS who presented with generalized ichthyosis in the neonatal period that evolved into more eczematous skin eruptions, accompanied by severe failure to thrive. This report highlights the importance of including SDS as a differential diagnosis in patients who present with early ichthyosis, failure-to-thrive, gastrointestinal symptoms and cytopenia.

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

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.

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

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.

Two Histologic Patterns of Lymphomatoid Papulosis Occurring in a Child: A Matter of Timing?

There are several histologic patterns seen in lymphomatoid papulosis, with the possibility of different subtypes occurring in the same patient. We report a case of lymphomatoid papulosis presenting with 2 histologic subtypes (types A and B) occurring concomitantly in a 10-year-old child, and postulate that the different subtypes occur dependent on the age of the lesion biopsied. Incidentally, one of the biopsies also shows a rarely seen pattern of pseudoepitheliomatous hyperplasia in a pediatric lymphomatoid papulosis patient.

Practical Recommendations for the Topical Treatment of Atopic Dermatitis in South and East Asia.

Introduction: There is some evidence to suggest that the prevalence of atopic dermatitis (AD) in Asia is rising. We have therefore developed an algorithm for the topical treatment of AD throughout South and East Asia for use by primary care physicians, pediatricians and dermatologists.

Methods: Nine AD experts from South and East Asia and one from Europe developed the algorithm based upon treatment guidelines, relevant literature and local treatment practices.

Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.

Although IKK-β has previously been shown as a negative regulator of IL-1β secretion in mice, this role has not been proven in humans. Genetic studies of NF-κB signaling in humans with inherited diseases of the immune system have not demonstrated the relevance of the NF-κB pathway in suppressing IL-1β expression. Here, we report an infant with a clinical pathology comprising neutrophil-mediated autoinflammation and recurrent bacterial infections.

Effects of Cast Immobilisation on Skin Barrier Function.

Introduction: Cast immobilisation remains the mainstay of treatment for various fractures in paediatric patients, yet patients commonly complain of skin irritation and discomfort. This study aimed to perform a qualitative and quantitative evaluation of the effects of cast immobilisation on the skin of children and adolescents.

Materials And Methods: Patients aged 6-17 years of age with a fracture treated in a fiberglass short-arm or short-leg cast were recruited.

Effect of pine-tar bath on disease severity in moderate-to-severe childhood eczema: an investigator-blinded, crossover, randomized clinical trial.

Background: 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.

Oral propranolol for the treatment of infantile haemangiomas in Singapore.

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.

Pilot study of a customized nanotextile wet garment treatment on moderate and severe atopic dermatitis: A randomized clinical trial.

Background: Atopic dermatitis (AD) is a common dermatosis. The cornerstone of eczema management is to repair and maintain skin barrier and hydration, as well as to reduce inflammation. Wet wrap therapy (WWT) is a widely used adjunct to achieve this.

Drug reaction with eosinophilia and systemic symptoms in a cohort of Asian children.

Background/objectives: Drug reaction with eosinophilia and systemic symptoms (DRESS) is rare but potentially fatal in children. Fever and rash, which are salient features of DRESS, may mimic other commonly encountered pediatric conditions. We profiled the DRESS cases in a tertiary children's hospital in Singapore.

Vulvar basal cell carcinoma: clinical features and treatment outcomes from a tertiary care centre.

We retrospectively reviewed the clinical features, management and outcomes of patients diagnosed with basal cell carcinoma (BCC) of the vulva at the Gynaecological Cancer Centre, KK Women's and Children's Hospital, Singapore, between 1 January 2000 and 28 February 2014. Patients with vulvar BCC were identified from the cancer registry, and their medical records reviewed and analysed. A total of 11 patients with vulvar BCC were identified.

Impact of pharmacists' counseling on caregiver's knowledge in the management of pediatric atopic dermatitis.

Background: Atopic dermatitis (AD) is a common skin condition in childhood. AD management can be complex, and caregivers may have inadequate information on the disease, aggravating factors, and management. Comprehensive therapeutic education has been closely associated with increased compliance and is recommended for all patients.

Epstein-Barr virus positive diffuse large B-cell lymphoma presenting with vaginal sloughing and ulcerated skin nodule.

Malignant lymphomas presenting in the female genital tract are extremely rare. We report a case of Epstein-Barr virus associated diffuse large B-cell lymphoma of the genital tract and skin in a 60-year-old woman on long-term azathioprine.