Please login or create an account. If you do not have access to this content, you will be shown a 30 second preview and licensing options.
- Presentation
The Wisdom that Comes with Hindsight
Description
The talk titled "The Wisdom that Comes with Hindsight" focuses on recognizing and differentiating uncommon pediatric skin diseases. The speaker recounts personal experiences and cases encountered, beginning with Dr. Bernice Krafcik's analogy comparing child skin conditions to sprouting plants, emphasizing the necessity of time for accurate diagnosis. Notably, the first case involves a nine-year-old with a vascular lesion initially misdiagnosed as a malformation, leading to the correct identification of a verrucous venous malformation (VVM) after careful evaluation and MRI imaging. The discussion then shifts to a 28-year-old patient with blisters since birth, ultimately diagnosed with epidermolytic ichthyosis, demonstrating how symptoms evolve with age. A third case features a three-year-old girl with blistering skin and pigmented spots, which was diagnosed as Kindler epidermolysis bullosa after a thorough clinical evaluation and genetic tests confirming mutations in keratin genes. Throughout, the importance of accurate diagnosis and the evolving phenotypes of skin diseases are highlighted, alongside treatment options and genetic testing advancements in pediatric dermatology. The speaker encourages ongoing education and involvement in upcoming dermatology congresses, concluding with a call to be adept in pediatric dermatology.
View moreConclusions
- The presentation emphasizes the importance of recognizing uncommon dermatological diseases in children.
- Verrucous venous malformations (VVM) are rare congenital lesions characterized by a hyperkeratotic surface and association with deeper capillary-venous malformations.
- VVM can often be misdiagnosed without careful histological analysis; appropriate treatment may include sirolimus and surgical excision.
- Epidermolytic ichthyosis has an evolving phenotype, transitioning from blistering at birth to a more hyperkeratotic presentation.
- Treatment for epidermolytic ichthyosis remains limited but may involve topical emollients and newer therapies like secukinumab.
- Kindler syndrome presents with skin fragility and progressive changes over time and can be associated with mutations in keratin genes.
- Recent advances in genetic testing have improved diagnosis and understanding of epidermolysis bullosa subtypes, enhancing patient management strategies.
- Wang L et al. J Cutan Pathol 2014; 41: 823-830.
- Boccara O et al. Pediatric Dermatology. 2018;1-4.
- Rice AS. StatPearls Publishing; 2025.
- Oji V. JAAD 2010;63(4).
- Teixeira-Mendes MS. An Bras Dermatol. 2013;88(6 Suppl 1):116-9.
- Amat-Samaranch V et al. Actas DermoSifiliogr 2021; Leeds DR. Clinic Imag 2021;76:156-9.
- Joosten M.D.W. Orphanet J Rare Dis 2022;17,269.
- March OP. J Invest Dermatol. 2019;139(8):1699-1710.e6.
- Chia SY. Eur J Med Genet 2021;64.
- Danescu S. Dermatol Ther 2024;14:2059-2075.
- Holahan H et al, JAAD Case Rep 2016.
- Echevarria-García. Pediatr Dermatol 2013;30(6)
- Coulombe PA. J Clin Invest 2009;119:1784-93.