Congenital Herpes Simplex Virus Type 1 Infection Mimicking Congenital Erosive and Vesicular Dermatosis: Possible Pathogenic Insights.

Congenital erosive and vesicular dermatosis (CEVD) is a rare entity of unknown etiology. We report a case of congenital herpes simplex virus (HSV) type 1 infection that healed with reticulated and supple scarring, similar to that seen in CEVD. Twenty percent of previously reported cases of CEVD had recurrent HSV infection throughout the first year of life. We postulate that at least some previous cases of CEVD may have been due to undiagnosed congenital HSV infection.

Granular parakeratosis induced by benzalkonium chloride exposure from laundry rinse aids.

Benzalkonium chloride is a quaternary ammonium cationic detergent present in a number of household products, which can act as a major skin irritant. We present the case of six children who developed granular parakeratosis after exposure to benzalkonium chloride in laundry rinse aids, presenting as a brightly erythematous, tender but minimally pruritic, intertriginous eruption followed by superficial desquamation. The eruptions resolved over 3-4 weeks after cessation of exposure.

Topical rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: follow up of a pilot study and promising future directions.

One of the most visible and potentially disfiguring cutaneous manifestations of tuberous sclerosis complex is the development of multiple facial angiofibromas, present in over 80% of patients. Topical rapamycin has been shown in many reports to be a safe and effective treatment for facial angiofibromas. In February 2012 we reported the results of a pilot study of four patients undertaken at a paediatric tertiary hospital in Australia. Since then, we have continued to refine the optimal formulation and concentration of topical rapamycin and expanded our selection of patients. We present an update on our current cohort of treated patients, discuss the optimal formulation of topical rapamycin and include a literature review on all published cases to date. Although topical rapamycin is not a curative treatment, we have demonstrated that its early institution significantly reduces both the vascularity and palpability of angiofibromas and prevents their progression with age. It is well tolerated and now a cost effective option.

Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis.

With advances in therapeutics for rare, genetic and syndromic diseases, there is an increasing need for objective assessments of phenotypic endpoints. These assessments will preferentially be high precision, non-invasive, non-irradiating, and relatively inexpensive and portable. We report a case of a child with an extensive lymphatic vascular malformation of the head and neck, treated with an mammalian target of Rapamycin (mTOR) inhibitor that was assessed using 3D facial analysis. This case illustrates that this technology is prospectively a cost-effective modality for treatment monitoring, and it supports that it may also be used for novel explorations of disease biology for conditions associated with disturbances in the mTOR, and interrelated, pathways.

Topical 0.1% rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: a pilot study of four patients.

Tuberous sclerosis complex (TSC) is an autosomal dominant genodermatosis characterised by the development of hamartomatous tumours in multiple organs including the brain, skin, kidneys, heart and lungs. Facial angiofibromas are the most visible and unsightly of the cutaneous manifestations of TSC, often resulting in stigmatisation for both the affected individuals and their families. Current treatments include vascular laser, ablative lasers and other destructive techniques such as shave excision and electrodessication. For the best outcome these treatments have to be repeated throughout childhood and teenage years, necessitating multiple general anaesthetics. We report a pilot study of topical rapamycin in four children with TSC and facial angiofibromas. Two patients were trialled on 0.1% rapamycin in petrolatum and the other two patients with 0.1% rapamycin solution (Rapamune) applied topically. Both preparations were rapidly and equally effective, however the 0.1% in petrolatum was much better tolerated. Younger patients with smaller angiofibromas had the best response with near complete clearance. Both preparations were more cost effective than pulsed dye laser under general anaesthesia. Although larger studies are needed, this treatment shows a potential to be a first-line management for facial angiofibromas in TSC and appears safe to start in early childhood.

Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia.

We report two boys with trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia. Trichodysplasia spinulosa is a cutaneous viral infection of immunosuppressed patients that causes abnormal hair follicle maturation. Our patients presented with widespread papules, some extruding a central keratin spicule, which were most prominent on the face. Histopathology demonstrated hair follicles dilated by a proliferation of large eosinophilic cells containing numerous abnormal trichohyaline granules. Electron microscopy in case 1 revealed 30-nm viral particles in the stratum corneum consistent with a papovavirus. In case 1, the eruption persisted despite topical salicyclic acid 4%, ammonium lactate 17.5%, tretinoin 0.05% and oral acitretin. However, it resolved once the patient's immune function returned to normal (total duration of 2 years). In case 2, the eruption spontaneously resolved after 9 months. This case report discusses the characteristic clinicopathological features of trichodysplasia spinulosa and, for the first time, follows the condition's natural history.

Paediatric atopic dermatitis in Perth general practice.

Ninety-seven Perth general practitioners completed a self-administered postal questionnaire that aimed to examine their caseload and management practices for childhood atopic dermatitis (AD). General practitioners saw a median of two new cases and three follow-up consultations per month for childhood AD, and referred a median of 10% of cases to a specialist, usually a dermatologist. Most (77%) recommended emollients for all patients, but only 21% specifically reported advising their use immediately after bathing. Sixty-one percent would use topical corticosteroids in all or most patients, but cream preparations were more commonly used (58%) than ointments (40%). Atrophy was rated as a common or very common side-effect of topical corticosteroid therapy by 23% of general practitioners. Twenty-six percent reported using oral corticosteroids in children with AD. Dietary changes would be recommended in at least a few AD patients by 79% of general practitioners, and 31% would recommend a change from cow's milk to soy in the absence of a history of dietary triggers. We conclude that general practitioners appeared generally well informed about AD management. However, dermatologists, through targeted education, may be in a position to help general practitioners further improve outcomes for these patients.

Anogenital and buttock ulceration in infancy.

Rashes in the anogenital and buttock region are some of the commonest dermatological problems occurring in infancy. The most frequent causes seen in clinical practice are ulcerating haemangiomas, bullous impetigo and severe irritant contact dermatitis. Other causes include nutritional deficiencies, bullous diseases, trauma, Langerhans cell histiocytoses and inflammatory disorders such as pyoderma gangrenosum and Crohn's disease. This review presents a brief overview of these causes and outlines the recommended management strategies.