■已经描述了与某些骨骼疾病有关的指甲营养不良,包括指甲髌骨综合症,Hutchinson-Gilford早衰综合征,Coffin-Siris综合征,先天性短指。然而,尚未记录与多发性骨phy发育不良(MED)相关的指甲变化。
■一名有MED病史的11岁男性,表现为增厚,出现营养不良的指甲。体格检查对指甲纵脊和沟槽有重要意义,变薄,和远端分裂。皮肤镜检查显示表面脱屑。剪指甲对微生物病原体呈阴性。手部X光片显示为短指,掌骨的缩短,双侧第5远端指骨和右第2远端指骨的硬化性骨phy。
■这是第一例记载的MED合并甲营养不良的病例,支持指骨形成和指甲发育之间的联系。重要的是要仔细检查骨骼发育不良患者的指甲单元,并筛查具有特征性和无法解释的指甲变化的患者的骨骼变化。患有骨骼疾病非常具有挑战性,和相关指甲疾病的治疗可以提高这些患者的生活质量。
UNASSIGNED: Onychodystrophy has been described in association with certain bone disorders, including Nail-Patella Syndrome, Hutchinson-Gilford Progeria Syndrome, Coffin-Siris Syndrome, and congenital brachydactyly. However, nail changes associated with multiple epiphyseal dysplasia (MED) has not been documented.
UNASSIGNED: An 11-year-old male with history of MED presented with thickened, dystrophic appearing fingernails. Physical examination was significant for fingernail longitudinal ridges and grooves, thinning, and distal splitting. Dermoscopy revealed superficial desquamation. Nail clippings were negative for microbial pathogens. Hand X-rays showed brachydactyly, shortening of the metacarpals, and sclerotic epiphyses of the bilateral 5th distal phalanges and right 2nd distal phalanx.
UNASSIGNED: This is the first documented case of MED with onychodystrophy, supporting the link between phalangeal formation and nail development. It is important to perform a careful examination of the nail units in patients with skeletal dysplasia and screen patients with characteristic and unexplained nail changes for bony changes. Living with skeletal disease is extremely challenging, and treatment of associated nail disease can improve quality of life for these patients.