David Orchard

Royal Melbourne Hospital, Melbourne, Victoria, Australia

Are you David Orchard?

Claim your profile

Publications (30)54.02 Total impact

  • Friyana K Bhabha · Maie Walsh · David Orchard · Ravi Savarirayan ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Terminal osseous dysplasia with pigmentary defects (TOD) is an extremely rare X-linked dominant disorder, which is characterised by cutaneous digital fibromas, pigmentary skin defects and skeletal abnormalities. A single mutation in the last nucleotide of exon 31 of the filamin A gene (FLNA) has recently been identified as a cause of the disease. We describe a case of an 18-month-old girl with the clinical phenotype of TOD and the disease-specific FLNA mutation confirmed by genetic testing. This report highlights the importance of recognising this distinct phenotype that can present to a wide variety of health-care professionals, and reviews the spectrum of filamin A disorders. © 2015 The Australasian College of Dermatologists.
    Australasian Journal of Dermatology 06/2015; DOI:10.1111/ajd.12367 · 1.11 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Atopic eczema is a chronic inflammatory disease affecting about 30% of Australian and New Zealand children. Severe eczema costs over AUD 6000/year per child in direct medical, hospital and treatment costs as well as time off work for caregivers and untold distress for the family unit. In addition, it has a negative impact on a child's sleep, education, development and self-esteem. The treatment of atopic eczema is complex and multifaceted but a core component of therapy is to manage the inflammation with topical corticosteroids (TCS). Despite this, TCS are often underutilised by many parents due to corticosteroid phobia and unfounded concerns about their adverse effects. This has led to extended and unnecessary exacerbations of eczema for children. Contrary to popular perceptions, (TCS) use in paediatric eczema does not cause atrophy, hypopigmentation, hypertrichosis, osteoporosis, purpura or telangiectasia when used appropriately as per guidelines. In rare cases, prolonged and excessive use of potent TCS has contributed to striae, short-term hypothalamic-pituitary-adrenal axis alteration and ophthalmological disease. TCS use can also exacerbate periorificial rosacea. TCS are very effective treatments for eczema. When they are used to treat active eczema and stopped once the active inflammation has resolved, adverse effects are minimal. TCS should be the cornerstone treatment of atopic eczema in children. © 2015 The Australasian College of Dermatologists.
    Australasian Journal of Dermatology 04/2015; DOI:10.1111/ajd.12313 · 1.11 Impact Factor
  • Benjamin S Daniel · David Orchard ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Topical corticosteroids are used frequently in dermatology and atopic dermatitis without significant adverse effects. Though ocular diseases such as glaucoma and cataracts are known complications of systemic corticosteroids, the role of topical corticosteroids is limited to case reports. This review assesses the literature regarding topical steroids and their role in ocular diseases. There is evidence of harm to vision when potent topical corticosteroids are inappropriately used for prolonged periods to periorbital sites. There is no evidence to date that weak TCS to the face or potent TCS to areas other than the eyes results in ocular complications. Further research trials are required in this area. © 2015 The Australasian College of Dermatologists.
    Australasian Journal of Dermatology 04/2015; 56(3). DOI:10.1111/ajd.12292 · 1.11 Impact Factor
  • [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; DOI:10.1111/ajd.12257 · 1.11 Impact Factor
  • Su Yuen Ng · Colleen D'Arcy · David Orchard ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Lipoatrophic panniculitis is a rare condition affecting mainly children, often associated with connective tissue disease. We report a healthy 12-month-old girl with no clinical or laboratory features of connective tissue disease who presented with the progressive appearance of annular atrophic plaques beginning at the left arm. A histopathological analysis revealed lobular panniculitis, with fat necrosis and an associated inflammatory infiltrate supporting the diagnosis of lipoatrophic panniculitis. Lipoatrophic panniculitis should be considered in infants and young children with clinical features of panniculitis and fat atrophy even without clinical or serologic evidence of connective tissue disease.
    Australasian Journal of Dermatology 03/2014; DOI:10.1111/ajd.12159 · 1.11 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    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; 92(6). DOI:10.1016/j.ajhg.2013.04.026 · 10.93 Impact Factor
  • Karthik Rajah · Mark R Oliver · Liz McLeod · David Orchard · Marcelo Leal ·
    [Show abstract] [Hide abstract]
    ABSTRACT: We present an instructive case of a 13-year old male who presented with bilateral scrotal redness, swelling and tenderness, but with a normal testicular exam. His scrotal swelling persisted despite treatment with intravenous antibiotics, and on further history he reported 2 years of intermittent upper lip swelling. After a referral to a dermatologist, a lip biopsy showed granulomatous changes and he was referred to the gastroenterology department. A gastroscopy and colonoscopy was performed and histology confirmed non-caseating granulomas consistent with Crohn's disease (CD). Eighteen months after the diagnosis of CD he developed perianal disease with a fistula and distal anal stricture. He was successfully treated with insertion of a seton and escalation of therapy to azathioprine and infliximab. CD is a phenotypically diverse chronic inflammatory condition with an increasing incidence in Australia and other Western countries. Non-typical presentations, such as perianal manifestations or orofacial granulomatosis, can be the only presenting symptom in CD, and this highlights the importance for a high degree of clinical suspicion. Genital involvement is rare, but reported.
    Journal of Paediatrics and Child Health 05/2013; 50(2). DOI:10.1111/jpc.12220 · 1.15 Impact Factor
  • [Show abstract] [Hide abstract]
    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; 55(3). DOI:10.1111/ajd.12037 · 1.11 Impact Factor
  • Charmaine Gray · Lauren Young · David Orchard · Tom G Connell ·

    Journal of Paediatrics and Child Health 12/2012; 48(12):1103. DOI:10.1111/jpc.12000 · 1.15 Impact Factor
  • [Show abstract] [Hide abstract]
    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. DOI:10.1111/j.1440-0960.2010.00684.x · 1.11 Impact Factor
  • Leona Yip · Sandy Darling · David Orchard ·
    [Show abstract] [Hide abstract]
    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. DOI:10.1111/j.1440-0960.2010.00734.x · 1.11 Impact Factor
  • Annika Smith · David Orchard ·
    [Show abstract] [Hide abstract]
    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. DOI:10.1111/j.1440-0960.2011.00730.x · 1.11 Impact Factor
  • Hope Dinh · Timothy O'Brien · Graham Mason · David Orchard ·
    [Show abstract] [Hide abstract]
    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. DOI:10.1111/j.1440-0960.2011.00766.x · 1.11 Impact Factor
  • Vyom Sharma · David Orchard ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Paediatric psoriasis is a common disorder with significant morbidity. New advances in biologic therapy, as well as recent reviews assessing classification, have led to a greater understanding of the condition of psoriasis. Presented in this review article is an overview of the presentation of psoriasis as well as an up to date review of management options.
    Paediatrics and Child Health 03/2011; 21(3-21):126-131. DOI:10.1016/j.paed.2010.09.011
  • Anita L Lasocki · Zornitza Stark · David Orchard ·
    [Show abstract] [Hide abstract]
    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. DOI:10.1111/j.1440-0960.2010.00662.x · 1.11 Impact Factor
  • Source
    Marc Tebruegge · Tom Connell · Nicole Ritz · David Orchard · Nigel Curtis ·

    International journal of infectious diseases: IJID: official publication of the International Society for Infectious Diseases 09/2010; 14 Suppl 3:e305-6. DOI:10.1016/j.ijid.2010.02.2246 · 1.86 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    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. DOI:10.1001/archdermatol.2010.109 · 4.79 Impact Factor
  • Hugh Roberts · David Orchard ·
    [Show abstract] [Hide abstract]
    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. DOI:10.1111/j.1440-0960.2010.00634.x · 1.11 Impact Factor
  • Alana J Tuxen · David Orchard ·
    [Show abstract] [Hide abstract]
    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. DOI:10.1111/j.1440-0960.2010.00627.x · 1.11 Impact Factor
  • Jeremy Rosenbaum · George Alex · Hugh Roberts · David Orchard ·
    [Show abstract] [Hide abstract]
    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. DOI:10.1111/j.1440-1754.2009.01660.x · 1.15 Impact Factor

Publication Stats

182 Citations
54.02 Total Impact Points


  • 2010-2015
    • Royal Melbourne Hospital
      Melbourne, Victoria, Australia
  • 1997-2015
    • The Royal Children's Hospital
      • Department of Dermatology
      Melbourne, Victoria, Australia
  • 2013
    • University of Melbourne
      Melbourne, Victoria, Australia