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Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement.
Br J Dermatol
June 2020
Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.
Background: Low skin-related quality of life (QoL) is usually associated with low levels of self-confidence and self-esteem and with high levels of anxiety and depression symptoms. The way patients cope with a physical disease impacts significantly on their psychosocial adjustment to the disorder and on their emotional functioning.
Objectives: To explore how coping strategies, skin-related QoL, psychological distress and self-esteem interact in a sample of individuals with neurofibromatosis type 1 (NF1).
The NF1 hotspot in acute myeloid leukemia: what's in a name?
Leukemia
December 2018
Laboratory for Molecular Hematology, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.
What's new with common genetic skin disorders?
Minerva Pediatr
August 2017
Department of Dermatology, Rochester, MN, USA -
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated.
View Article and Find Full Text PDFWhat's new with common genetic skin disorders?
Curr Opin Pediatr
August 2015
Department of Dermatology, Medical Genetics and Pediatric and Adolescent Medicine, Rochester, Minnesota, USA.
Purpose Of Review: Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis have recognizable, cutaneous features. In children, cases often present without a prior diagnosis. This review highlights new information about diagnostic signs and care of affected patients.
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