David Orchard

The Royal Children's Hospital, Melbourne, Victoria, Australia

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Publications (19)34.19 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: Multiple dermatofibromas is a rare entity consisting of more than fifteen lesions. Multiple clustered dermatofibroma is a distinct variant of multiple dermatofibromas and is defined as a well-demarcated plaque composed of individual dermatofibromas. We report a 16-year-old boy with multiple clustered dermatofibroma in a segmental distribution, which has previously not been reported in the literature.
    Australasian Journal of Dermatology 01/2015; · 0.98 Impact Factor
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    ABSTRACT: Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and targeted sequencing, we investigated germline and tumor DNA in individuals from four distinct families with the familial form of IM and in five simplex IM cases with no previous family history of this disease. We identified a germline mutation c.1681C>T (p.Arg561Cys) in platelet-derived growth factor receptor ? (PDGFRB) in all 11 affected individuals with familial IM, although none of the five individuals with nonfamilial IM had mutations in this gene. We further identified a second heterozygous mutation in PDGFRB in two myofibromas from one of the affected familial cases, indicative of a potential second hit in this gene in the tumor. PDGFR-? promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM. Our findings indicate p.Arg561Cys substitution in PDGFR-? as a cause of the dominant form of this disease. They provide a rationale for further investigations of this specific mutation and gene to assess the benefits of targeted therapies against PDGFR-? in aggressive life-threatening familial forms of the disease.
    The American Journal of Human Genetics 05/2013; · 11.20 Impact Factor
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    ABSTRACT: Haemophagocytic lymphohistiocytosis complicating Epstein-Barr virus positive T-cell lymphoproliferative disease of childhood is a rare and life-threatening entity. We report a child with this condition presenting with a toxic epidermal necrolysis-like eruption.
    Australasian Journal of Dermatology 04/2013; · 0.98 Impact Factor
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    ABSTRACT: Bullous dermolysis of the newborn is an inherited mechano-bullous disorder classed as a rare subtype of dystrophic epidermolysis bullosa. Fewer than 30 cases of bullous dermolysis of the newborn have been reported in the literature and the pathogenesis of the disease is poorly understood. Only a minority of cases have had pathogenic mutations identified. We present a case of a neonate born to non-consanguineous Caucasian parents with an exon 54 (c.5017G > A, p.G1673R) mutation reported as one mutant allele in a case of recessive dystrophic epidermolysis bullosa (generalized other).
    Australasian Journal of Dermatology 11/2011; 52(4):e1-4. · 0.98 Impact Factor
  • Leona Yip, Sandy Darling, David Orchard
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    ABSTRACT: We present a case series of childhood lymphomatoid papulosis (LyP), an entity which is commonly misdiagnosed and poorly described in the paediatric dermatology literature. Clinically and histologically, the features of LyP in children can mimic insect bite reactions, with prominent dermal neutrophils and eosinophils. However, CD30 immunohistochemical staining of atypical lymphocytes within a mixed inflammatory infiltrate should point to the diagnosis of LyP. There is no consensus to guide management of childhood LyP due to its rarity and largely unknown natural course. We discuss our experience with LyP in five children and the use of methotrexate to induce rapid resolution of persistent lesions and to reduce recurrences in two children. Although none of our cases have experienced malignant transformation to date, life-long monitoring is advocated.
    Australasian Journal of Dermatology 11/2011; 52(4):279-83. · 0.98 Impact Factor
  • Annika Smith, David Orchard
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    ABSTRACT: We present two families in whom infantile myofibromatosis affects two generations. The disease expression in these families suggests an autosomal dominant mode of inheritance. Clinical diagnosis and establishment of the inheritance pattern have important prognostic implications for the affected individual and family members and serves to guide subsequent genetic counselling.
    Australasian Journal of Dermatology 08/2011; 52(3):214-7. · 0.98 Impact Factor
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    ABSTRACT: We present seven cases of a targetoid eruption, clinically mimicking erythema multiforme, occurring in paediatric patients aged 12 months to 14 years. All patients presented with a pruritic targetoid eruption on body and acral sites which spared mucosal areas. All patients demonstrated a spongiotic reaction pattern on histology without lichenoid change and demonstrated excellent responses to either oral prednisolone or topical corticosteroids. We propose the term 'targetoid spongiotic reaction pattern (TSRP)' for our subset of paediatric patients. We review the literature regarding targetoid eruptions in the paediatric population.
    Australasian Journal of Dermatology 05/2011; 52(2):117-22. · 0.98 Impact Factor
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    ABSTRACT: We present the case of a boy with a clinical diagnosis of Goltz (focal dermal hypoplasia) syndrome. This is a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. It is inherited in an X-linked dominant fashion and is normally lethal in male patients. Mutations in the PORCN gene (Xp11.23), the proteins of which are key regulators in embryonic development, have been found to be responsible for the syndrome. Sequencing of the PORCN gene was negative in our patient. This case highlights some of the challenges of obtaining a molecular diagnosis in male patients with suspected Goltz syndrome in the clinical setting.
    Australasian Journal of Dermatology 02/2011; 52(1):48-51. · 0.98 Impact Factor
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    ABSTRACT: To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. Observational study (cross-sectional and longitudinal). Australian private dermatology practice, inpatient ward, and outpatient clinic. Systematic case finding of patients with EB simplex, junctional EB (JEB), and dystrophic EB and data collection were performed throughout Australia and New Zealand from January 1, 2006, through December 31, 2008. Patients were consecutively enrolled in the study after clinical assessment and laboratory diagnosis. Medical records were retrospectively examined, and physicians involved in EB care were contacted to obtain patient history. A Herlitz JEB case series was prepared from registry data. Demographics and prognosis of patients with Herlitz JEB. A total of 259 patients were enrolled in the study: 139 with EBS, 91 with dystrophic EB, 28 with JEB, and 1 with Kindler syndrome. Most enrollees were Australian citizens (n = 243), with an Australian prevalence rate of 10.3 cases per million. The age range in the registry was birth to 99 years, with a mean and median age of 24.1 and 18.0 years, respectively. Ages were similar in patients with EBS and dominant dystrophic EB but were markedly lower in patients with JEB. Patients with Herlitz JEB (n = 10) had the highest morbidity and mortality rates, with a mean age at death of 6.8 months. Sepsis, failure to thrive, and tracheolaryngeal complications were the leading causes of death. The Australasian EB registry is the first registry in Australia and New Zealand to provide original data on age, sex, ethnicity, and geographical and disease subtype distribution. The Australasian Herlitz JEB cohort witnessed a high infant mortality rate and poor prognosis overall.
    Archives of dermatology 06/2010; 146(6):635-40. · 4.76 Impact Factor
  • Hugh Roberts, David Orchard
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    ABSTRACT: We present a case series of 25 paediatric patients with refractory discoid eczema treated with methotrexate. Patients were commenced on either 5 mg or 10 mg of methotrexate per week. Sixteen patients (64%) completely cleared their eczema after an average of 10.5 months of methotrexate therapy. A further three patients (12%) have responded well and are almost clear at the time of writing. Methotrexate was well tolerated by the majority of patients and no serious adverse events were observed. Methotrexate should be considered in moderate to severe paediatric discoid eczema that has failed to respond to conventional therapies.
    Australasian Journal of Dermatology 05/2010; 51(2):128-30. · 0.98 Impact Factor
  • Alana J Tuxen, David Orchard
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    ABSTRACT: We present seven cases of orofacial granulomatosis occurring in paediatric patients aged 6-16 years. All patients were investigated for Crohn's disease and a strong association was found. All patients were treated with intralesional corticosteroid injections with excellent clinical responses. We review the literature and discuss the epidemiological association between childhood orofacial granulomatosis and Crohn's disease, as well as various treatment options, and propose a treatment protocol that was efficacious and well tolerated in all our patients.
    Australasian Journal of Dermatology 05/2010; 51(2):124-7. · 0.98 Impact Factor
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    ABSTRACT: A severe cutaneous eruption in an unwell patient can be a major cause of physician anxiety. With numerous differential diagnoses, an early accurate diagnosis can be challenging. infectious causes are the most important to exclude in a timely manner and drug rash and eosinophilia with systemic symptoms (DRESS) is another differential diagnosis that should be considered in children. This hypersensitivity reaction is associated with multisystem involvement. Children with underlying chronic diseases may have impairment of normal metabolic pathways and are also often on multiple medications. Therefore, drugs should always be considered in the aetiopathology of any new symptoms and signs. This case report informs readers of the association of sulfasalazine and DRESS in an 11-year-old with inflammatory bowel disease and discusses its pathogenesis and treatment. Increased awareness of this disorder will hopefully lead to increased reporting and consequently illuminate the syndrome more clearly and help guide its prevention and treatment.
    Journal of Paediatrics and Child Health 04/2010; 46(4):193-6. · 1.19 Impact Factor
  • Alana Jane Tuxen, David Orchard
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    ABSTRACT: We describe a patient with a solitary mastocytoma arising at a site of trauma. The patient was born with the umbilical cord wrapped around her right thigh and subsequently developed a solitary mastocytoma in the exact site and distribution of this injury. The pathogenesis of mast cell proliferation in solitary mastocytoma is not completely understood. Cytokines released after injury, such as stem cell factor, may stimulate the proliferation of mast cells, as well as fibroblasts and melanocytes to form a mastocytoma. Mast cells in a newborn may be more sensitive to stem cell factor in the presence of cytokines released after injury due to an increased density of c-kit receptors. We present our patient and review the literature to support a hypothesis that this condition represents a reactive, and not neoplastic, process.
    Australasian Journal of Dermatology 06/2009; 50(2):133-5. · 0.98 Impact Factor
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    ABSTRACT: Epidermolysis bullosa simplex (EBS), the most common subtype of EB, is usually inherited as an autosomal dominant trait caused by mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) genes. Recessive EBS (R-EBS) is extremely rare. We present the first Australian patient diagnosed with R-EBS, to our knowledge, and a comprehensive review of genotypes and phenotypes of R-EBS reported cases. The female proband, of Turkish descent with consanguineous parentage, was referred to us at the age of 8 years. Clinically, she had a severe phenotype including generalized blisters, mucosal involvement and EB naevi. Immunofluorescence mapping and electron microscopy were consistent with a diagnosis of EBS. Staining for Keratin 14 (K14) was negative. The basal layer, however, reacted with monoclonal antibodies to keratins 6 (K6) and 16 (K16). Mutation screening from genomic DNA showed that the proband was homozygous for the truncation mutation Y204X in exon 3 of KRT14, and both unaffected parents were heterozygous for a single KRT14 Y204X mutation. The phenotype of our patient is reported in more detail and with longer follow-up than those of others published in the literature. The proband's phenotype was severe as an infant but improved with age, suggesting that an alternative keratin is pairing with K5 in her skin to compensate for the loss of K14--a novel biological compensatory mechanism. It is interesting that K6 and K16 were expressed, as these are normally positive in hyperproliferative skin disorders.
    Clinical and Experimental Dermatology 09/2008; 33(6):689-97. · 1.23 Impact Factor
  • Kate L A Borchard, David Orchard
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    ABSTRACT: Topical therapies are the mainstay in the treatment of atopic dermatitis, and are effective in the majority of patients with mild and localized disease. In patients with widespread or recalcitrant moderate to severe dermatitis, systemic therapies may be required. The frequently used systemic therapies are immunosuppressants, immune response modifiers, anti-inflammatories, antihistamines, and antibiotics. In this article, the indications and scientific support for the use of these medications is reviewed.
    Australasian Journal of Dermatology 08/2008; 49(3):123-34; quiz 135-6. · 0.98 Impact Factor
  • Katherine Armour, David Orchard
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    ABSTRACT: We report on 50 consecutive suitable patients with one or more palmoplantar warts who were treated with a patient-applied ointment comprising 0.1% diphencyprone and 15% salicylic acid in white soft paraffin. All patients sensitized to diphencyprone were followed up clinically and assessed by patient questionnaire. The intention to treat success rate in this series was 88%. The time to wart clearance ranged from less than 4 weeks to 4 months. In our patient group, 90% rated their treatment as 'excellent' or 'good', whereas 10% stated that the reaction induced by diphencyprone was 'too severe'. Our results are compared with those previously published using diphencyprone in the treatment of palmoplantar warts.
    Australasian Journal of Dermatology 09/2006; 47(3):182-5. · 0.98 Impact Factor
  • Gordon J Rennick, Elizabeth Moore, David C Orchard
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    ABSTRACT: SUMMARY The role of food allergy in atopic dermatitis is controversial. This study presents results of skin prick tests to 31 different food allergens in a selected population of predominantly breast-fed young infants who had moderate to severe generalized atopic dermatitis. Of the 59 infants (22 female, mean age 26.5 weeks) tested, 54 infants (91.5%) had positive responses to one or more foods, 53 infants (90%) were positive to one or more of the five common food allergens (egg white, cow's milk, peanuts, wheat or soy) and 80% were positive to egg white, which was by far the most common positive test. A total of 37 infants had strongly positive responses to one or more foods, with 33 of these 37 having strongly positive responses to egg white. The significance of these responses is discussed. It is concluded that positive skin prick tests to foods, particularly to egg white, are very common in this selected population of breast-fed infants with moderate to severe atopic dermatitis.
    Australasian Journal of Dermatology 03/2006; 47(1):41-5. · 0.98 Impact Factor
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    ABSTRACT: We describe a newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension. Limb deficiency has not been described previously in IP and pulmonary hypertension only on two previous occasions. A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product.
    American Journal of Medical Genetics Part A 07/2005; 135(3):302-3. · 2.05 Impact Factor
  • Gayle L Ross, David C Orchard
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    ABSTRACT: The objective of this study was to assess the efficacy and tolerability of combination therapy for molluscum contagiosum (MC) with topical cantharidin and imiquimod 5%. A prospective case series of 16 paediatric patients with a mean age of 4.8 years had cantharidin applied to lesions by a dermatologist, followed by home treatment with imiquimod 5% cream nightly for an average of 5 weeks. This regimen resulted in >90% of lesions clearing in 12 patients, with half of these being totally clear. Two patients had 80-90% of lesions resolve. Two patients had 30-50% clearance of lesions at the end of the treatment period. One patient found the cantharidin reaction too strong. The mean number of imiquimod 250 mg sachets used was 4.25. In conclusion, this study suggests that combination therapy using cantharidin and imiquimod for treatment of MC in children is effective and well tolerated.
    Australasian Journal of Dermatology 05/2004; 45(2):100-2. · 0.98 Impact Factor