College of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.
Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina, USA.
Pediatr Dermatol. 2022 Jan;39(1):133-134. doi: 10.1111/pde.14883. Epub 2022 Jan 5.
Keratosis pilaris is a common skin condition associated with a number of syndromes, including collagen type VI-related disorders. Our patient, recently diagnosed with Ullrich congenital muscular dystrophy, presented with severe keratosis pilaris, hypotonia, and velvety skin on the palms and soles. We present this case to highlight the importance of including cutaneous findings, such as keratosis pilaris, to aid in the diagnosis when evaluating patients with syndromic features.
毛发角化病是一种常见的皮肤疾病,与多种综合征有关,包括Ⅵ型胶原相关疾病。我们的患者最近被诊断为先天性肌营养不良症,表现为严重的毛发角化病、低张力和手掌及足底天鹅绒样皮肤。我们提出这个病例是为了强调在评估有综合征特征的患者时,包括皮肤表现(如毛发角化病)以协助诊断的重要性。