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遗传性皮肤病患者的足部结构和功能障碍:单中心回顾性图表研究。

Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.

机构信息

Department of Dermatology, Venereology, and Paediatric Dermatology, Medical University of Lublin, Staszica 11, 20-080, Lublin, Poland.

Department of Dermatology, Venereology, and Allergy, Medical University Innsbruck, Innsbruck, Austria.

出版信息

Orphanet J Rare Dis. 2022 Feb 16;17(1):53. doi: 10.1186/s13023-022-02207-x.

Abstract

BACKGROUND

Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published on this topic. Therefore, we performed a retrospective chart review to identify patients with genodermatoses and foot disorders. We included 16 patients, who were investigated clinically and with molecular biology.

RESULTS

The following genodermatoses with foot deformities were detected: autosomal recessive congenital ichthyosis (ARCI, n = 7); palmoplantar keratodermas (PPKs, n = 6); ichthyosis follicularis, atrichia, and photophobia (IFAP, n = 1); ectrodactyly-ectodermal dysplasia-clefting (EEC, n = 1); and ichthyosis with confetti (IWC, n = 1). Foot problems not only varied in severity depending on the disease but also showed phenotypic heterogeneity among patients with the same condition. Foot deformities were most pronounced in patients with EEC (split foot) or IWC (contractures) and less severe in those with ARCI (clawed toes), IFAP (hollow feet), or PPK (no bone abnormalities in the feet).

CONCLUSION

Because a range of distinct genodermatoses involve foot abnormalities, early rehabilitation and other corrective measures should be provided to patients with foot involvement to improve gait and prevent/delay irreversible complications.

摘要

背景

足部皮肤损伤和足部畸形会影响日常活动并降低生活质量。虽然许多遗传性皮肤病会导致严重的足部畸形,但对此类疾病的报道却很少。因此,我们进行了回顾性图表分析,以确定患有遗传性皮肤病和足部疾病的患者。我们纳入了 16 名患者,对其进行了临床和分子生物学检查。

结果

发现了以下具有足部畸形的遗传性皮肤病:常染色体隐性先天性鱼鳞病(ARCI,n=7);掌跖角化病(PPK,n=6);毛囊角化病、少毛症和畏光症(IFAP,n=1);并指(趾)-外胚层发育不良-裂腭(EEC,n=1);斑点状鱼鳞病(IWC,n=1)。足部问题不仅因疾病的严重程度而异,而且在同一疾病的患者中也表现出表型异质性。EEC(分裂足)或 IWC(挛缩)患者的足部畸形最为明显,而 ARCI(爪状趾)、IFAP(足弓凹陷)或 PPK(足部无骨异常)患者的足部畸形则较轻。

结论

由于多种不同的遗传性皮肤病都会引起足部异常,因此对于患有足部受累的患者,应尽早进行康复和其他矫正措施,以改善步态并预防/延迟不可逆的并发症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/21cd/8848968/ae8c4a8c2832/13023_2022_2207_Fig1_HTML.jpg

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