Marie-Anne Morren1, Katrien Vanden Broecke1, Leen Vangeebergen2, Johannes Henk Sillevis-Smitt3, Peter Van Den Berghe4, Esther Hauben5, Sandra Jacobs2, Stefaan W Van Gool6. 1. Department of Dermatology, University Hospitals Leuven, Leuven, Belgium and Department of Microbiology and Immunolgy KU Leuven, Belgium. 2. Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. 3. Department of Dermatology, Academic Medical Centre, Amsterdam, The Netherlands. 4. Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium. 5. Department of Pathology, University Hospitals Leuven, Leuven, Belgium. 6. Laboratory of Pediatric Immunology, KU Leuven, Leuven, Belgium.
Abstract
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare disease, frequently affecting young children. PROCEDURE: We performed a retrospective study in patients younger than 16 years old manifesting with skin symptoms, and documented their different cutaneous lesions and systemic symptoms. We compared subgroups of children with single-system, skin-only, and multisystem disease and sought signs predictive for multisystem disease. In a small sample of patients, BRAF mutations were analyzed in archived biopsies. RESULTS: A wide spectrum of cutaneous presentations varying from crusted nodules and papules, blisters, vascular tumor-like lesions, scaling orange to red macules (frequently in seborrheic regions) to purpuric macules, and papules was documented in our cohort of 32 children. Otitis externa was a common manifestation and mucosal lesions were seen in three patients. A novel manifestation was a red-blue nodule that appeared in a patient after a vaccination. None of the cutaneous lesions was predictive for the classification or final outcome as a single-system or multisystem disease. However, later onset and a more protracted course of skin lesions were more frequent findings in multisystem LCH. Mucosal lesions and otitis externa were almost exclusively seen in patients with multisystem disease, a finding that warrants further investigation. Both wild-type (WT) and mutated BRAF were found not only in multisystem LCH, but also in skin-only LCH. Two cases with rapidly resolving congenital lesions had WT BRAF. CONCLUSIONS: Late onset and a protracted course of skin lesions are associated with MS-LCH, whereas WT BRAF is found in rapidly resolving skin lesions.
BACKGROUND:Langerhans cell histiocytosis (LCH) is a rare disease, frequently affecting young children. PROCEDURE: We performed a retrospective study in patients younger than 16 years old manifesting with skin symptoms, and documented their different cutaneous lesions and systemic symptoms. We compared subgroups of children with single-system, skin-only, and multisystem disease and sought signs predictive for multisystem disease. In a small sample of patients, BRAF mutations were analyzed in archived biopsies. RESULTS: A wide spectrum of cutaneous presentations varying from crusted nodules and papules, blisters, vascular tumor-like lesions, scaling orange to red macules (frequently in seborrheic regions) to purpuric macules, and papules was documented in our cohort of 32 children. Otitis externa was a common manifestation and mucosal lesions were seen in three patients. A novel manifestation was a red-blue nodule that appeared in a patient after a vaccination. None of the cutaneous lesions was predictive for the classification or final outcome as a single-system or multisystem disease. However, later onset and a more protracted course of skin lesions were more frequent findings in multisystem LCH. Mucosal lesions and otitis externa were almost exclusively seen in patients with multisystem disease, a finding that warrants further investigation. Both wild-type (WT) and mutated BRAF were found not only in multisystem LCH, but also in skin-only LCH. Two cases with rapidly resolving congenital lesions had WT BRAF. CONCLUSIONS: Late onset and a protracted course of skin lesions are associated with MS-LCH, whereas WT BRAF is found in rapidly resolving skin lesions.
Authors: G Tuysuz; I Yildiz; N Ozdemir; I Adaletli; S Kurugoglu; H Apak; S Dervisoglu; S Bozkurt; T Celkan Journal: Mediterr J Hematol Infect Dis Date: 2019-05-01 Impact factor: 2.576
Authors: Anna Raciborska; Katarzyna Bilska; Jadwiga Węcławek-Tompol; Olga Gryniewicz-Kwiatkowska; Małgorzata Hnatko-Kołacz; Joanna Stefanowicz; Anna Pieczonka; Katarzyna Jankowska; Filip Pierelejewski; Tomasz Ociepa; Grażyna Sobol-Milejska; Katarzyna Muszyńska-Rosłan; Olga Michoń; Wanda Badowska; Monika Radwańska; Katarzyna Drabko Journal: BMC Cancer Date: 2020-09-11 Impact factor: 4.430