Infantile hemangioma (IH) is the most common pediatric vascular tumor. Its pathogenesis is poorly understood but thought to represent an aberrant response of pluripotent stem cells to stimuli such as hypoxia and the renin-angiotensin system. IH usually appears during the first few weeks of life and follows a characteristic natural trajectory of proliferation and involution.
View Article and Find Full Text PDFThe majority of infantile hemangiomas (IH) can be managed conservatively, but for those requiring active treatment, management has been revolutionized in the last decade by the discovery of propranolol. Patients that may require active intervention should receive specialist review, ideally before 5 weeks of age to mitigate the risk of sequelae. Propranolol can commence for most infants in the outpatient setting and the most frequently employed dosing regimen is 1 mg/kg twice daily.
View Article and Find Full Text PDFNeuroblastoma is the most common solid tumor malignancy in the first year of life. We present a rare case of a 5-month-old girl with an infraorbital tumor that simulated an infantile hemangioma clinically but was ultimately diagnosed as metastatic neuroblastoma.
View Article and Find Full Text PDFBackground/objectives: Therapeutic approaches to keratinocyte carcinoma rely on the accuracy of the biopsy to correctly identify, grade or subtype the tumour. Several studies have investigated the frequency and nature of histopathological discordance between the biopsy and final excision specimen. We analysed information extracted from an Australian Mohs micrographic surgery (MMS) database and compared similar studies.
View Article and Find Full Text PDFSegmental stiff skin syndrome is a rare genetic connective tissue disease, which is often misdiagnosed. High-frequency ultrasonography can represent a useful clinical adjunct in the differential diagnosis of this condition, in conjunction with the clinical and histopathological findings. Treatment options are limited and evidence is scarce.
View Article and Find Full Text PDFActas Dermosifiliogr (Engl Ed)
November 2020
High-frequency ultrasonography (HFUS) represents a useful adjunct for dermatologists in the diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) syndrome. We present a paediatric case series of 6 patients with confirmed RASA1 gene mutation in whom HFUS demonstrated AVM beneath cutaneous CM-like lesions greater than 1.5 cm.
View Article and Find Full Text PDFHigh-frequency ultrasonography represents a promising tool for pediatric dermatologists. It is a non-invasive diagnostic technique that is particularly appealing when working with children. It can be easily performed at the patient's bedside, avoiding diagnostic delays, sedation, or multiple visits.
View Article and Find Full Text PDFHigh-frequency ultrasonography represents a promising tool for pediatric dermatologists. It is a noninvasive and harmless diagnostic technique that is especially appealing when working with children. It can be easily performed at the patient's bedside, avoiding diagnostic delays, sedation, or multiple visits.
View Article and Find Full Text PDFJ Eur Acad Dermatol Venereol
November 2019
Background: It has been reported that clinical evaluation consistently underestimates the severity of hidradenitis suppurativa (HS).
Objective: To determine the usefulness of ultrasound as a diagnostic tool in HS compared with clinical examination and to assess the subsequent modification of disease management.
Methods: Cross-sectional multicentre study.
Background: Cutaneous ultrasonography can be challenging in children. We aim to identify the most complicated cases and the best timing for assessment.
Methods: We retrospectively reviewed sonographic exams in pediatric patients from our cutaneous ultrasonography clinic over a two-year period.
J Paediatr Child Health
February 2019
The aim of this study is to review sirolimus as a treatment for blue rubber bleb naevus syndrome (BRBNS). A literature search of Medline, Embase, CINAHL, SCOPUS and Google Scholar was conducted for publications reporting treatment of patients with BRBNS with sirolimus. Of 46 articles identified, 17 studies reporting 23 patients met inclusion criteria.
View Article and Find Full Text PDFActas Dermosifiliogr (Engl Ed)
January 2020
Permanent epicardial pacing wires are sometimes left in place and can lead to long-term complications. We report on a case of a granulomatous reaction with a cutaneous fistula secondary to the retained epicardial pacing wires in a child and highlight the relevance of sonography as an additional tool in the diagnosis and management of dermatologic conditions.
View Article and Find Full Text PDFHigh-frequency ultrasonography (HFUS) can help improve dermatofibrosarcoma protuberans (DFSP) recognition. We present three cases of DFSP in which a "jellyfish-like" sonographic pattern was a useful adjunct in formulating the diagnosis. In addition, we review all DFSP ultrasound images available in the literature.
View Article and Find Full Text PDFHigh-frequency ultrasonography is a bedside tool increasingly used for the assessment of skin lesions, but there have been few reports about its importance in children with skin signs of hematologic disease. We present three cases to highlight the usefulness of high-frequency ultrasonography in assisting with the diagnosis of these skin lesions.
View Article and Find Full Text PDFPrecalcaneal congenital fibrolipomatous hamartoma is an underreported benign entity that has been described in the literature under different names. We present two cases of unilateral fibrolipomatous hamartoma (FLH) appearing in a unique location: on the posterior aspect of the foot overlying the heel. We propose the term "FLH of the skin" as a more inclusive and less confusing term for this condition, thus allowing distinction with FLH arising from neural tissue.
View Article and Find Full Text PDFBackground/objectives: A variety of congenital developmental anomalies arise on the neck because of the many fusion planes and complex embryologic structures in this region. We describe a series of seven patients with a novel type of superficial midline congenital anomaly.
Methods: Retrospective case series.
Actas Dermosifiliogr (Engl Ed)
September 2018
Idiopathic facial aseptic granuloma is a typical childhood disease characterized by the presence of one or more asymptomatic nodules on the cheek. Although pathogenesis remains unclear, the disease is thought to be a type of childhood rosacea. It resolves spontaneously, yet it could be confused with other lesions that require treatment.
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