Shrestha Samir, Regmi Bashant, Pathak Raksha, Kroumpouzos George
Department of Dermatology, Rapti Province Hospital, Tulsipur, India.
Department of Radiology, Rapti Province Hospital, Tulsipur, India.
Case Rep Dermatol. 2023 Mar 15;15(1):51-55. doi: 10.1159/000529727. eCollection 2023 Jan-Dec.
Acroosteolysis (AO) is a rare condition characterized by resorption of the distal phalanges of the fingers and/or toes. It can be familial, idiopathic (IAO), occupational, or secondary. Other authors suggest a classification into primary (genetic disorders, lysosomal storage disorders) or secondary AO. Various skin and nail changes have been reported in this condition. However, the cutaneous change on the affected digit(s)/toe(s) during the natural course of AO has been poorly documented. A 5-year-old girl presented with a 3-month history of a distinct transverse boundary between normal skin proximally and affected crusted skin overlying osteolysis distally ("split" sign) on the plantar surface of the third toe. This boundary gradually elongated circumferentially to involve the dorsal surface. The mother gave a similar history of a delimitation line on the 2nd, 4th, and 5th toes of the right foot with durations of 3 months, 1 year, and 2 years, respectively, that disappeared before she noticed a shortening of those toes. X-rays revealed partial resorption of the terminal phalanx of the third toe and several lytic changes in the middle and terminal phalanx of the second, fourth, and fifth toes. The clinical features, radiology findings, and a workup that helped rule out conditions associated with AO (secondary AO) helped establish the diagnosis of IAO in our patient. This case study highlights that the natural course of IAO includes distinct skin findings, such as the "split" sign that we describe. This sign can help identify the condition early.
肢端骨质溶解症（AO）是一种罕见病症，其特征为手指和/或脚趾远端指骨的吸收。它可以是家族性、特发性（IAO）、职业性或继发性的。其他作者建议将其分为原发性（遗传性疾病、溶酶体贮积症）或继发性AO。在这种病症中已报道了各种皮肤和指甲变化。然而，AO自然病程中受影响手指/脚趾的皮肤变化记录甚少。一名5岁女孩，第三趾足底表面出现3个月病史，近端正常皮肤与远端骨质溶解上方受影响的结痂皮肤之间有明显的横向边界（“分裂”征）。该边界逐渐沿周向拉长，累及背侧表面。母亲讲述了右脚第2、4和5趾有类似的界限线病史，持续时间分别为3个月、1年和2年，在她注意到这些脚趾缩短之前界限线就消失了。X线显示第三趾末节指骨部分吸收，第二、四和五趾中节和末节指骨有多处溶骨性改变。临床特征、影像学检查结果以及有助于排除与AO相关病症（继发性AO）的检查，有助于确诊我们患者的IAO。本病例研究强调，IAO的自然病程包括独特的皮肤表现，如我们所描述的“分裂”征。该征象有助于早期识别该病症。
