ABSTRACT
This case report describes an 8-year-old girl who received oral sirolimus as an adjuvant therapy for pulse dye laser of her port-wine stain and as an off-label treatment of exudative retinal detachment secondary to diffuse choroidal hemangioma.
Subject(s)
Choroid Neoplasms , Sirolimus , Sturge-Weber Syndrome , Humans , Sturge-Weber Syndrome/drug therapy , Sturge-Weber Syndrome/diagnosis , Sturge-Weber Syndrome/complications , Choroid Neoplasms/drug therapy , Choroid Neoplasms/diagnosis , Sirolimus/administration & dosage , Administration, Oral , Hemangioma/drug therapy , Hemangioma/diagnosis , Female , Male , Fluorescein Angiography , Immunosuppressive Agents/administration & dosage , Immunosuppressive Agents/therapeutic useABSTRACT
Discoid (nummular) eczema is a common and distinctive eczema variant, which has not been studied in depth. Although the principles of management are similar to that of classic atopic dermatitis, distinctions are made due to its unique presentation and persistent clinical course in children. Australian and New Zealand dermatologists with an interest in paediatric eczema developed a consensus narrative to assist clinicians in diagnosing and treating this subtype of eczema. Identifying triggers, potent topical corticosteroids under occlusion, skin barrier support and management of pruritus are first-line therapies, however, many eventually require systemic immunomodulatory agents.
Subject(s)
Dermatitis, Atopic , Dermatologic Agents , Eczema , Child , Humans , New Zealand , Australia , Eczema/diagnosis , Eczema/drug therapy , Dermatitis, Atopic/drug therapy , Dermatologic Agents/therapeutic useABSTRACT
BACKGROUND/OBJECTIVES: Malignant rhabdoid tumors (MRT) are highly aggressive tumors with a predilection for the kidney, central nervous system, and soft tissues that usually affect young children under three years of age. Primary presentation in the skin is rarely reported, and features of the cutaneous manifestations are not well described. We report six cases of metastatic MRT that first manifested with congenital nodules and masses in the skin. METHODS: Retrospective case series. RESULTS: The cutaneous presentation of MRT may be heterogeneous and can present with solitary or multifocal skin lesions. Congenital polypoidal and papillomatous plaques, including those with histologic features of neurovascular hamartoma, appear to be a unique presentation of MRT in the infant. CONCLUSIONS: Malignant rhabdoid tumor should be considered in the differential diagnosis of unusual skin tumors in neonates and infants.
Subject(s)
Papilloma , Rhabdoid Tumor , Skin Neoplasms , Child , Child, Preschool , Diagnosis, Differential , Humans , Infant , Infant, Newborn , Retrospective Studies , Rhabdoid Tumor/diagnosis , Skin Neoplasms/diagnosisABSTRACT
Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab.
Subject(s)
Dermatologic Agents/therapeutic use , Ichthyosis, Lamellar/drug therapy , Ichthyosis, Lamellar/genetics , Receptors, Cell Surface/genetics , Ustekinumab/therapeutic use , Homozygote , Humans , Infant , Male , Mutation, MissenseABSTRACT
Fibroadipose vascular anomaly (FAVA) is a rare, complex mesenchymal malformation combining fibrofatty replacement of the affected muscles and slow-flow vascular malformation. The condition is characterized by localized swelling, severe pain, phlebectasia, and contracture of the affected limb. Treatment paradigms are not well established for this rare, recently recognized condition. We report two cases of FAVA in which treatment with sirolimus produced rapid, dramatic improvement in pain and quality of life.
Subject(s)
Immunosuppressive Agents/therapeutic use , Pain/drug therapy , Sirolimus/therapeutic use , Vascular Malformations/drug therapy , Adolescent , Child , Female , Foot/pathology , Forearm/pathology , Humans , Magnetic Resonance Imaging , Muscle, Skeletal/pathology , Pain/etiology , Pain Management/methods , Quality of Life , Treatment Outcome , Vascular Malformations/pathologyABSTRACT
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.
Subject(s)
Acyclovir/therapeutic use , Antiviral Agents/therapeutic use , Herpes Simplex/diagnosis , Herpesvirus 1, Human/genetics , Skin Diseases, Vesiculobullous/diagnosis , Diagnosis, Differential , Female , Herpes Simplex/drug therapy , Humans , Infant, NewbornABSTRACT
Although most infantile haemangiomas do not require treatment due to a natural history of spontaneous involution, some require early intervention. The Australasian Vascular Anomalies Network and the Australasian Paediatric Dermatology Network have developed a consensus statement for the treatment of infantile haemangiomas with oral propranolol. Infants with haemangiomas that are life threatening, at risk of ulceration, or at risk of causing a significant functional impairment, psychological impact or physical deformity should be treated early with oral propranolol. Oral propranolol is safe and effective and in most healthy infants oral propranolol can be started in an outpatient setting.
Subject(s)
Consensus , Hemangioma, Capillary/drug therapy , Neoplastic Syndromes, Hereditary/drug therapy , Propranolol/therapeutic use , Vasodilator Agents/therapeutic use , Drug Monitoring , Humans , Patient Selection , Propranolol/administration & dosage , Vasodilator Agents/administration & dosageABSTRACT
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.
Subject(s)
Benzalkonium Compounds/adverse effects , Household Products/adverse effects , Parakeratosis/chemically induced , Parakeratosis/pathology , Adolescent , Child , Child, Preschool , Female , Humans , Laundering , MaleABSTRACT
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.
Subject(s)
Adrenal Cortex Hormones/adverse effects , Dermatitis, Atopic/drug therapy , Dermatologic Agents/adverse effects , Skin/pathology , Administration, Cutaneous , Adrenal Cortex Hormones/administration & dosage , Atrophy/chemically induced , Australia , Bone Diseases, Metabolic/chemically induced , Child , Child, Preschool , Consensus , Dermatitis, Allergic Contact/etiology , Dermatologic Agents/administration & dosage , Eye Diseases/chemically induced , Humans , Hypertrichosis/chemically induced , Hypopigmentation/chemically induced , Hypothalamo-Hypophyseal System/drug effects , Osteoporosis/chemically induced , Pituitary-Adrenal System/drug effects , Purpura/chemically induced , Rosacea/chemically induced , Striae Distensae/chemically induced , Tachyphylaxis , Telangiectasis/chemically inducedABSTRACT
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.
Subject(s)
Angiofibroma/drug therapy , Antibiotics, Antineoplastic/administration & dosage , Sirolimus/administration & dosage , Administration, Topical , Adolescent , Angiofibroma/etiology , Child , Female , Follow-Up Studies , Humans , Male , Pilot Projects , Tuberous Sclerosis/complications , Young AdultABSTRACT
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.
Subject(s)
Drug Monitoring/methods , Face/pathology , Imaging, Three-Dimensional , Lymphatic Abnormalities/drug therapy , Picibanil/therapeutic use , TOR Serine-Threonine Kinases/antagonists & inhibitors , Vascular Malformations/drug therapy , Antineoplastic Agents/therapeutic use , Child , Female , Head/abnormalities , Head/pathology , Humans , Lymphatic Abnormalities/metabolism , Lymphatic Abnormalities/pathology , Magnetic Resonance Imaging , Neck/abnormalities , Neck/pathology , Vascular Malformations/metabolism , Vascular Malformations/pathologyABSTRACT
Microcephaly-capillary malformation (MIC-CAP) syndrome is characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay and multiple small capillary malformations on the skin. We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting. Patient cell lines showed reduced STAMBP expression associated with accumulation of ubiquitin-conjugated protein aggregates, elevated apoptosis and insensitive activation of the RAS-MAPK and PI3K-AKT-mTOR pathways. The latter cellular phenotype is notable considering the established connection between these pathways and their association with vascular and capillary malformations. Furthermore, our findings of a congenital human disorder caused by a defective DUB protein that functions in endocytosis implicates ubiquitin-conjugate aggregation and elevated apoptosis as factors potentially influencing the progressive neuronal loss underlying MIC-CAP syndrome.
Subject(s)
Capillaries/pathology , Developmental Disabilities/genetics , Endosomal Sorting Complexes Required for Transport/genetics , Epilepsy/genetics , Microcephaly/genetics , Mutation/genetics , Skin Diseases/genetics , Ubiquitin Thiolesterase/genetics , Case-Control Studies , Child, Preschool , Cohort Studies , Developmental Disabilities/pathology , Endosomal Sorting Complexes Required for Transport/antagonists & inhibitors , Endosomal Sorting Complexes Required for Transport/metabolism , Epilepsy/pathology , Exome/genetics , Female , Fluorescent Antibody Technique, Indirect , Genes, Recessive , Genome, Human , Genotype , Humans , Infant , Male , Microcephaly/pathology , RNA, Small Interfering/genetics , Skin Diseases/pathology , Syndrome , Ubiquitin Thiolesterase/antagonists & inhibitors , Ubiquitin Thiolesterase/metabolismABSTRACT
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.
Subject(s)
Angiofibroma/drug therapy , Antibiotics, Antineoplastic/therapeutic use , Facial Neoplasms/drug therapy , Sirolimus/therapeutic use , Tuberous Sclerosis/complications , Administration, Topical , Adolescent , Angiofibroma/complications , Child , Child, Preschool , Facial Neoplasms/complications , Female , Follow-Up Studies , Humans , Male , Pilot Projects , Treatment OutcomeABSTRACT
BACKGROUND: Little is known about the population using Australian dermatology outpatient services, in particular, Indigenous patients. This information is important to direct the strategic planning of dermatology services. METHODS: This study is a multicentre, retrospective audit of all patients attending public, outpatient dermatology clinics over 7 months across four Perth tertiary hospitals. The patient population (4873 patients) was profiled by age, gender, Indigenous status and rural/urban status. Medical records of the Indigenous patient population (104 patients) were reviewed to reveal the most common skin conditions. RESULTS: The population using public, outpatient services had a median age of 48 years, 51.4% were male and 13.6% were from rural areas. Male patient median age was 50 years compared to 45 years for female patients (P = 0.002). Indigenous patients had a median age of 22 years, a female to male ratio of 3:2 and 26.9% were from rural areas. Over 50% of Indigenous patient appointments were missed. Skin infections, eczematous conditions and naevi were the most common skin conditions in Indigenous patients. CONCLUSIONS: This data can guide strategies towards improving the provision of dermatology services for the Australian population. Particular attention is required towards improving Indigenous Australians' capacity to access dermatology services.
Subject(s)
Ambulatory Care/statistics & numerical data , Dermatology , Native Hawaiian or Other Pacific Islander/statistics & numerical data , Adult , Aged , Australia/epidemiology , Female , Humans , Male , Middle Aged , Needs Assessment , Retrospective Studies , Skin Diseases/epidemiology , Young AdultSubject(s)
Acrodermatitis/diagnosis , Exanthema/diagnosis , Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Acrodermatitis/diet therapy , Arginine/deficiency , Exanthema/diet therapy , Humans , Infant , Isoleucine/deficiency , Male , Ornithine Carbamoyltransferase Deficiency Disease/diet therapy , Treatment OutcomeABSTRACT
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.
Subject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , Hair Diseases/chemically induced , Hair Follicle/virology , Immunocompromised Host , Immunosuppressive Agents/adverse effects , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Child , Facial Dermatoses/chemically induced , Facial Dermatoses/pathology , Female , Hair Diseases/pathology , Hair Diseases/virology , Hair Follicle/pathology , Humans , MaleABSTRACT
A 12-year-old girl presented with uveitis, joint disease and ichthyosis resembling ichthyosis vulgaris. A biopsy taken from the affected lower leg demonstrated sarcoidal-type granulomas. Synovial biopsy from the knee also showed granulomas. There was a family history of similar clinical features in the patient's younger sister. There were no other systemic features present to suggest a diagnosis of sarcoidosis or other granulomatous disease such as Crohn's disease or tuberculosis. The familial nature of the condition also made these diagnoses less likely. A clinical diagnosis of Blau syndrome was made. Blau syndrome is an uncommon sarcoidosis-like multisystem autosomal-dominant granulomatous disorder caused by mutations in the CARD15 gene. This gene has also recently been found to be a factor in the development of psoriatic arthritis and Crohn's disease. Although many forms of skin involvement have been described in Blau syndrome, this is the first case described of ichthyosis as the primary skin manifestation.
Subject(s)
Ichthyosis/etiology , Sarcoidosis/diagnosis , Uveitis/etiology , Child , Diagnosis, Differential , Female , Humans , Ichthyosis/pathology , Intracellular Signaling Peptides and Proteins/genetics , Mutation , Nod2 Signaling Adaptor Protein , Sarcoidosis/complications , Sarcoidosis/genetics , Sarcoidosis/pathology , SyndromeABSTRACT
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.
Subject(s)
Dermatitis, Atopic/therapy , Family Practice/statistics & numerical data , Practice Patterns, Physicians'/statistics & numerical data , Child , Child, Preschool , Dermatitis, Atopic/epidemiology , Dermatology , Female , Humans , Infant , Male , Referral and Consultation/statistics & numerical data , Surveys and Questionnaires , Western Australia/epidemiologyABSTRACT
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.