Keloid formation after syndactyly reconstruction: associated conditions, prevalence, and preliminary report of a treatment method

Muzaffar, Arshad R.; Rafols, Francisco; Masson, James K.; Ezaki, Marybeth; Carter, Peter R.

doi:10.1016/j.jhsa.2003.10.017

Cited by 37 publications

(36 citation statements)

References 28 publications

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“…Greuse et al 12 in 2001 reported the evaluation of 16 patients presenting 24 syndactylies in two years. Works that include the highest number of patients are those of Bandoh et al 8 in 1997 with 58 patients in nine years; D'Arcangelo et al 9 in 1996 with 50 cases and 122 syndactylies in nine years, and the impressive study with 681 patients in 20 years in the study of Muzaffar et al 13 published in 2004. In our midst Barboza et al 14 in 2006 reported experience with 13 patients in two years, and Cortez et al 15 with 72 patients in five years in 2010.…”

Section: Discussionmentioning

confidence: 99%

Análise casuística da sindactilia congênita: experiência com 47 pacientes

et al. 2013

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Objective To assess and report clinical data from patients with syndactyly. Methods A retrospective review of 47 patients treated between April 2002 and April 2012. Results Among the 47 analyzed patients, 33 (70%) were male and 14 (30%) female. The total number of syndactylies was 116. The right hand was affected in 19 patients (40%), the left hand in 12 (24%) and 31 (36%) were bilaterally compromise. Sixteen patients (34%) also presented genetic syndromes. Among the 31 (66%) patients without syndromes, 12 (39%) had isolated syndactyly and 19 (61%) presented association with other hand anomalies. The third web space was affected 45 (39%) times; the fourth, 35 (30%) times; the second, 22 (19%) times and the first web space 14 (22%) times. Simple syndactyly was found 68 (59%) times, complete syndactyly in 44 (65%) and incomplete in 24 (55%). Complex syndactyly was found 48 (41%) times. Conclusion The results in this study are similar to the literature. Epidemiological Study.

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Section: Discussionmentioning

confidence: 99%

Análise casuística da sindactilia congênita: experiência com 47 pacientes

et al. 2013

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“…The exception to this rule is mentioned above, for simple volar debulking. If signs of scar hypertrophy are appreciated early postoperatively, we recommend a 10-week course of oral methotrexate (0.5 mg/kg weekly) and folic acid (5 mg/wk) 11 with appropriate surveillance laboratory values, as described by Muzaffer et al 12 This has been shown to have an insignificant side-effect profile at these low doses for such a short period of time. Ideally a pediatric rheumatologist should be available to help with dosing and duration of treatment as well as trending of laboratory values.…”

Section: Pearls and Pitfallsmentioning

confidence: 99%

Surgical Treatment of Macrodactyly

Gluck¹,

Ezaki²

2015

The Journal of Hand Surgery

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“…2B). Another peculiar condition that includes mildly enlarged syndactylized digits, though not in a nerve territory, and a predictable propensity for keloid scarring is clinically different from type I macrodactyly (4) (Fig. 2C).…”

Section: Introductionmentioning

confidence: 99%

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

Rios

Paria

Burns³

et al. 2012

Human Molecular Genetics

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Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb, typically within a ‘nerve territory’. The classic terminology for this condition is ‘lipofibromatous hamartoma of nerve’ or Type I macrodactyly. The peripheral nerve, itself, is enlarged both in circumference and in length. It is not related to neurofibromatosis (NF1), nor is it associated with vascular malformations, such as in the recently reported CLOVES syndrome. The specific nerve pathophysiology in this form of macrodactyly has not been well described and a genetic etiology for this specific form of enlargement is unknown. To identify the genetic cause of macrodactyly, we used whole-exome sequencing to identify somatic mutations present in the affected nerve of a single patient. We confirmed a novel mutation in PIK3CA (R115P) present in the patient's affected nerve tissue but not in blood DNA. Sequencing PIK3CA exons identified gain-of-function mutations (E542K, H1047L or H1047R) in the affected tissue of five additional unrelated patients; mutations were absent in blood DNA available from three patients. Immunocytochemistry confirmed AKT activation in cultured cells from the nerve of a macrodactyly patient. Additionally, we found that the most abnormal structure within the involved nerve in a macrodactylous digit is the perineurium, with additional secondary effects on the axon number and size. Thus, isolated congenital macrodactyly is caused by somatic activation of the PI3K/AKT cell-signaling pathway and is genetically and biochemically related to other overgrowth syndromes.

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Keloid formation after syndactyly reconstruction: associated conditions, prevalence, and preliminary report of a treatment method

Cited by 37 publications

References 28 publications

Análise casuística da sindactilia congênita: experiência com 47 pacientes

Análise casuística da sindactilia congênita: experiência com 47 pacientes

Surgical Treatment of Macrodactyly

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

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