Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.

AIM: Cryopyrin-associated periodic syndromes (CAPS) encapsulate three auto-inflammatory conditions, ranging in severity from mild (familial cold auto-inflammatory syndrome: FCAS), moderate (Muckle-Wells syndrome: MWS) and severe (neonatal onset multi-inflammatory disorder: NOMID). We aimed to describe the epidemiology, clinical features and outcomes of Australian children and adults with CAPS. METHODS: Patients were identified and clinical data collected through a questionnaire sent during 2012-2013 to clinicians reporting to the Australian Paediatric Surveillance Unit and subscribing to the Australasian Societies for Allergy/Immunology, Rheumatology and Dermatology. RESULTS: Eighteen cases of CAPS were identified (8 NOMID; 8 MWS, 2 FCAS); 12 in children <18 years of age. The estimated population prevalence of CAPS was 1 per million persons. Diagnostic delay was frequent, particularly in those with milder phenotypes (median diagnostic delay in MWS/FCAS 20.6 years compared with NOMID 2.1 years; P = 0.04). Common presenting features included urticaria (100%), periodic fever (78%), arthralgia (72%) and sensorineural hearing loss (61%). Almost all (90%) MWS patients had a family member similarly affected compared with none in the NOMID group (P = 0.004). A significant proportion of patients on anti-interleukin (IL)-1 therapy (n = 13) no longer had systemic inflammation. Only 50% with sensorineural hearing loss had hearing restored on anti-IL-1 therapy. CONCLUSIONS: Although CAPS are rare, patients often endured prolonged periods of systemic inflammation. This is despite almost all MWS patients having family members with similar symptoms and children with NOMID presenting with chronic infantile urticaria associated with multi-system inflammation. Hearing loss in NOMID/MWS was frequent, and reversible in only 50% of cases.

Will baby boomers create new models of retirement community in rural Australia?

AIM: Baby boomers are depicted as a cohort who will redefine the ageing process and reject segregated homes for older people. This exploratory study sought to find and interview friendship groups in rural Australia who are actively engaged in creating alternative living arrangements conceptualised around preparations for old age. METHOD: A purposive sampling frame and snowballing techniques were used to identify groups of interest, who were interviewed by phone using a semistructured survey. RESULTS: Five groups were identified, each with explicit plans to avoid segregated housing by taking care of each other. They believe segregated housing to be undesirable and unsustainable, and perceive a need for alternative solutions. CONCLUSIONS: Baby boomers geographically unattached and independent of children recognise they will require the cooperation of others to remain independent for as long as possible, and will strive to create mutually supportive living arrangements - thus creating new models of retirement community.

The influence of cognitive processes on rural landholder responses to climate change.

Global climate change modelling has identified south-east Australia as a 'hot spot' for more frequent climatic extremes. Rural landholders may be vulnerable to the risks climate change presents. Australia's rural landholders are considered highly adaptable, with a history of responding to climatic uncertainty and variability. Yet it is possible that some of their adaptations will not be effective in reducing vulnerability, and may have downstream impacts. Rural landholder decision making is complex, and this is one of a limited number of papers examining rural landholder responses to climate change and the factors influencing their decisions. Data were gathered using semi-structured interviews and a mail survey of rural landholders in two districts. Established socio-psychological scales were employed to measure beliefs, values and attitudes that are expected to shape landholder behaviour. Most of the rural landholders surveyed were not climate change 'deniers' with 70% agreeing that the climate is changing and that human activity is a major influence. Climate change was nominated as an influence on six adaptive behaviours by 50% or more of survey respondents. However, there were no significant relationships between belief in climate change and adaptive actions. Personal values and worldviews were found to be the most frequent factors linked to adaptive behaviour. These findings illustrate the complex nature of rural landholder decision making: suggesting that many rural landholders do not need convincing of the existence of climate change; and that efforts to motivate rural landholders to respond to climate change risks should be based on sound knowledge of their values and worldviews.

Refractory symptoms successfully treated with leukotriene inhibition in a child with systemic mastocytosis.

Montelukast was effective in treating refractory abdominal and urinary symptoms in a child with systemic mastocytosis.

Widespread porokeratotic adnexal ostial nevus: clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus.

Porokeratotic eccrine ostial and dermal duct nevus and a similar condition, porokeratotic eccrine and hair follicle nevus, are rare disorders of keratinization with eccrine and hair follicle involvement. We describe the clinical features in 5 patients, all of whom had widespread skin involvement following the lines of Blaschko. Two patients presented with erosions in the newborn period as the initial manifestation of their disease; one had an associated structural anomaly, unilateral breast hypoplasia; and one adult had malignant transformation in the nevus with development of multifocal squamous cell carcinomas. Three patients had histologic involvement of both acrosyringia and acrotrichia. Based on the observation of overlapping histologic features, we propose the name "porokeratotic adnexal ostial nevus" to incorporate the previously described entities porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus.

Conditions masquerading as infantile haemangioma: Part 2.

Infantile haemangiomas are among the most common growths during infancy. Their rapid growth during infancy and vascularity can easily cause confusion with other, less common growths. Part I focussed on other vascular anomalies that can mimic infantile haemangiomas. Part II emphasizes benign growths and malignant conditions that can also cause diagnostic confusion.

Conditions masquerading as infantile haemangioma: Part 1.

Infantile haemangiomas are among the most common growths during infancy. Their rapid growth during infancy and vascularity can easily cause confusion with other, less common growths. This article focuses on the myriad of diagnostic mimics of haemangiomas, including other vascular anomalies, benign growths, and malignancies.

Is it trichotillomania? Hair pulling in childhood: a developmental perspective.

A cohort of children with hair pulling as the presenting symptom was followed up to enhance clinical understanding of the nature of hair-pulling behaviour in childhood. Thirty-eight children were clinically assessed for a diagnosis of trichotillomania, co-morbidity, co-existing habits and other relevant factors. Intervention consisted of a combination of behavioural strategies, self-esteem work, supportive family approaches, attachment-focused parenting models and medication. In this group of children it was difficult to define their symptoms as a clinical diagnosis of trichotillomania, using ICD-1O/DSM-IV. This article concludes that hair pulling, as a symptom in children, is a heterogeneous condition. It is useful to approach this issue from a developmental perspective. Our data warrant reappraisal of the diagnosis of trichotillomania in childhood. We explore the framework of a developmental continuum to understand and manage the problem of hair pulling in childhood.

Large, papillomatous, pedunculated nevus sebaceus: a new phenotype.

We present five cases of an unusual phenotype of nevus sebaceus characterized by large, pink, exophytic nodules. In all cases, no evidence of extracutaneous disease or associated syndromes was observed. We review the clinical presentation of nevus sebaceus, the differential diagnosis of exophytic scalp tumors in the newborn, as well as management of these lesions.

Persistent linear bands in infancy acquired after local pressure: a consequence of mast cell activation?

A 10-month-old girl with marked symptomatic dermographism presented with linear bands at the sock line noted to have developed following an episode of localized urticaria and angioedema at the sock line. We speculate that release of mast cell mediators associated with the dermographism may have triggered the development of the linear bands.

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.

Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?

A novel pigmented dermatosis was observed in four unrelated boys, three of whom had insulin-dependent diabetes. Three patients were the offspring of consanguineous parents. All four boys had pigmented hypertrichotic patches or induration on the upper inner thighs, with variable involvement of the genitalia, trunk, and limbs. Two boys had episcleritis and orbital proptosis with similar facies and musculoskeletal abnormalities including clinodactyly, flat feet, and short stature. One child had paraaortic and inguinal lymphadenopathy and three patients had an enlarged liver and spleen. A large, swollen pancreas was observed on ultrasound imaging in one patient with insulin dependent diabetes who also had echocardiographic evidence of pericardial inflammation. Three boys had elevated laboratory markers of inflammation. Biopsy specimens from the skin and orbit showed a chronic inflammatory cell infiltrate composed of polyclonal lymphocytes, histiocytes, and plasma cells; fibrosis was observed in two patients, one of whom had previously received radiation therapy to the orbit. Two boys responded to treatment with subcutaneous interferon-alpha, combined with a short course of oral prednisone in the child without diabetes. We believe these inflammatory pigmented skin lesions represent a unique dermatosis associated with diabetes mellitus and systemic disease. The pathogenesis is unknown. The presence of consanguinity in three of four families, and similar dysmorphic features in two boys, suggest a genetic disorder, possibly with autosomal recessive inheritance.

Rapid improvement of calcinosis in juvenile dermatomyositis with alendronate therapy.

A 6-year-old boy with improving juvenile dermatomyositis (JDM) developed severe and debilitating calcinosis, unresponsive to diltiazem and probenecid. Alendronate produced dramatic improvement within 1 month and by 12 months calcinosis had virtually resolved. The response was followed by bone mineral content measurements.

Erythrokeratodermas: a classification in a state of flux?

The term 'erythrokeratodermas' or 'erythrokeratodermias' has been applied to a group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques. Connexin mutations have been demonstrated to be responsible for most cases of erythrokeratoderma variabilis but there remain some cases without demonstrated connexin mutations, suggesting genetic heterogeneity. The position of progressive symmetric erythrokeratoderma has become rather unclear. Loricin mutations have been found in some cases that clinically resemble variant Vohwinkel syndrome and other cases have features that overlap with those of erythrokeratoderma variablis. Whether progressive symmetric erythrokeratoderma exists as a distinct entity is under question.

Demodex infestation in a child with leukaemia: treatment with ivermectin and permethrin.

BACKGROUND: Demodex mites are almost ubiquitous on older adult skin but are infrequent in young children. In immunocompromised patients, demodicosis may be more frequent and severe, and systemic therapy may be needed to achieve clinical resolution. CASE REPORT: A six-year-old boy having maintenance chemotherapy for acute lymphoblastic leukemia presented with widespread erythema and scaling of the face. Skin scrapings were negative and the eruption worsened despite the completion of chemotherapy and the use of topical corticosteroids. Pustules developed on the face and around the eyelids, associated with bilateral blepharitis and lower lid chalazia. Skin biopsy then revealed heavy infestation with Demodex folliculorum. The child was treated with a combination of topical permethrin and oral ivermectin, with a total of four doses of ivermectin given over 6 weeks. The facial eruption had completely resolved 3 months after initiation of this combined treatment. COMMENT: Demodex infestation can cause dramatic facial and eyelid inflammation in immunocompromised patients. Oral ivermectin, in combination with topical permethrin, can be a safe and effective treatment for severe demodicosis.

Cutaneous pustular leukemoid reactions in trisomy 21.

We report two neonates with Down syndrome and postnatal leukemoid reactions who developed acute widespread pustular eruptions. The white blood cell (WBC) counts on the first day of life were markedly elevated, with blasts seen on examination of the peripheral blood smear. The skin eruptions progressed and became pustular. Viral and bacterial cultures were negative. Skin examination revealed pustules on an erythematous base on the cheeks, shoulders, trunk, and proximal extremities. Skin biopsy specimens showed an intraepidermal pustule with an inflammatory infiltrate including neutrophils, eosinophils, and mononuclear cells. The mononuclear cells had atypical, immature-appearing nuclei. In patient 1, these cells were strongly myeloperoxidase positive on immunohistochemistry, indicating myeloid lineage. In patient 2, these cells were CD3-positive T cells. Patient 1 received a 5-day infusion of continuous cytarabine (ara-C) secondary to high WBC counts and symptomatic hyperviscosity. During therapy, the high WBC count and the pustules resolved. The lesions of patient 2 improved with topical mometasone furoate and resolved as her WBC count decreased. Recently, similar cases have been reported. Transient myeloproliferative disorders, or leukemoid reactions, should always be considered when newborns with Down syndrome or trisomy 21 mosaicism develop a pustular eruption.