Background GLI3 encodes a transcription factor in the sonic hedgehog signaling pathway, which is essential in regulating the human limb bud development, especially on the anteroposterior axis. Mutations in GLI3 have been confirmed to be associated with various human congenital malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, and isolated polydactyly. A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation–caused isolated polydactyly. This study intended to perform a mutation analysis of GLl3 in a family with isolated polydactyly. Methods A 3-generation Chinese family with 19 members was recruited in this study, of which the proband and her mother were affected with polydactyly. The whole-exon sequencing was performed to find mutations, and Sanger sequencing was performed to validate the mutations. Results We found a novel heterozygous frameshift mutation of GLI3 (c.1180C > TT, p.P394fs18x) in the proband of a Chinese family with isolated postaxial polydactyly. No mutation was detected in the proband's father or another 2 patients with sporadic preaxial polydactyly. Conclusions By systematically reviewing the gene-phenotype relationship, we found that GLI3 p.P394fs18x mutation might be specific for isolated postaxial polydactyly.
Hand burns are frequently seen in children, often resulting in digital flexion contractures. Traditional split-thickness or full-thickness skin grafts leave notably different skin texture and hyperpigmentation. The purpose of this study was to describe our operation for treating digital flexion contractures with full-thickness plantar skin grafts, and to evaluate the appearance and function outcomes. Hematoxylin and eosin staining, Masson trichrome staining and Melan A (marker of melanocyte) staining were used to evaluate palmar skin, plantar skin, groin skin and burn scars. Full-thickness plantar skin grafts were performed between 2008 and 2015 in 24 hand burn patients with digital flexion contracture. The average age at the time of surgery was 39.3 months and the average follow-up period was 5.5 years. The functional and cosmetic results were assessed. Plantar skin shared similar attributes with palmar skin histologically. Both plantar skin and palmar skin did not express melan A. All of the skin grafts survived well without hematoma, infection and necrosis. The grafts resembled the adjacent normal skin in regards to appearance and texture. The average TAM (total active movement) degree for the fingers was improved from 152.3 to 238.5. The average VSS (Vancouver Scar Scale) score decreased dramatically from 10.4 to 1.1. Twenty one of twenty four patients (21/24, 87.5%) were very satisfied with function and appearance, and three in twenty four (3/24, 12.5%) were somewhat satisfied. This study indicates that full-thickness plantar skin grafts can achieve a satisfactory appearance and good function for hand burn child patients with digital flexion contractures. K E Y W O R D S aesthetic reconstruction, digital flexion contracture, full-thickness skin graft, hand burn, plantar skin 1 | INTRODUCTION Digital flexion contractures are potential complications seen in children due to scar contractures on the palmar side of fingers following injuries such as burns and fires. After scars are released and resected, split-thickness skin grafts (STSGs) or full-thickness skin grafts (FTSGs) are usually applied to resurface the volar skin defects. Routine donor sites include the medial forearm, the medial upper arm, wrist creases, postauricular, thigh, groin region. 1-3 These traditional skin grafts often leave a notably unsightly skin texture, hyperpigmentation and donor sites morbidity, which are reminders of physical trauma in childhood and may leave psychological problems during adolescence. One of the basic principles in reconstructive and plastic surgery is to replace tissue with like tissue. The ideal donor site should provide good skin type match, easy access and minimal donor site morbidity.
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