Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpool, UK.
Eur J Dermatol. 2011 Sep-Oct;21(5):771-5. doi: 10.1684/ejd.2011.1464.
Camptodactyly is a non-traumatic, painless, non-neurogenic flexion deformity at the proximal interphalangeal joint of the little finger, which may occur in isolation or in various developmental dysmorphology syndromes. In a ten-year survey of almost 10,000 consecutive neurology outpatient referrals, using a passive case finding strategy, camptodactyly was observed with a frequency of 0.43%. All were cases of isolated camptodactyly, and all but one were asymptomatic. Camptodactyly was more often bilateral, often asymmetric, than unilateral. A family history was common, sometimes with intrafamilial heterogeneity (symmetry, degree of angulation). The pattern of inheritance was not certain, but the predominance of female cases (both directly observed and reported in families) and a paucity of father-to-daughter cases suggested the possibility of either sex-linked dominant transmission or mitochondrial DNA point mutation. There was no evidence for aminoaciduria or taurinuria, as previously reported in some cases. Hence, camptodactyly is relatively common as an incidental finding in patients referred to general neurological outpatient clinics, and thus possibly also in the general population. It is possible that camptodactyly is a heterogeneous disorder. Further studies are required to ascertain whether this is the case, and to probe further the inheritance and pathogenesis of the disorder.
先天性指屈肌挛缩是一种无痛性、非神经源性的小指近节指间关节屈曲畸形，可孤立存在或发生于各种发育性畸形综合征中。在一项对近 10000 例连续神经内科门诊就诊者进行的为期 10 年的调查中，采用被动病例发现策略，发现先天性指屈肌挛缩的频率为 0.43%。所有病例均为单纯性先天性指屈肌挛缩，除 1 例外均无症状。先天性指屈肌挛缩多为双侧，常不对称，而非单侧。家族史常见，有时具有家族内异质性（对称性、弯曲程度）。遗传模式不确定，但女性病例居多（直接观察到和在家族中报告的病例均如此），且父亲向女儿传递的病例很少，提示可能存在性连锁显性遗传或线粒体 DNA 点突变。如先前一些病例报道的那样，没有证据表明存在氨基酸尿或牛磺酸尿。因此，先天性指屈肌挛缩在转至普通神经内科门诊的患者中作为偶发发现较为常见，因此在普通人群中也可能存在。先天性指屈肌挛缩可能是一种异质性疾病。需要进一步研究以确定是否如此，并进一步探讨该疾病的遗传和发病机制。
