Thumb and index finger macrodactyly with first carpometacarpal and scaphotrapezotrapezoidal joints fusion: inevitable consequence?

Iyengar, Karthikeyan P; Matar, Hosam E; Suraliwala, Khushroo

doi:10.1136/bcr-2016-218043

BMJ Case Reports

2017

DOI: 10.1136/bcr-2016-218043

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Thumb and index finger macrodactyly with first carpometacarpal and scaphotrapezotrapezoidal joints fusion: inevitable consequence?

Karthikeyan P Iyengar

Hosam E Matar

Khushroo Suraliwala

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2019

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“…Macrodactyly can be inherited when it occurs with a syndrome, but isolated macrodactyly is usually sporadic [3,4]. Macrodactyly of the hand is more frequently than the foot and usually involved more than one digit.…”

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confidence: 99%

A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report

et al. 2019

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Background Macrodactyly is a rare congenital deformity characterized by gigantism of all structures of the digits. Previous reports showed that the mosaic PIK3CA variants were associated with overgrowth syndromes including macrodactyly. Objectives To determine the genetic alteration in a Thai patient with enlarged soft tissue of the left middle and left fourth fingers with abnormal enlarged phalanges. Method A nerve and a skin piece were separated from a therapeutically surgically removed part of the enlarged digit. Skin fibroblasts were cultured from the removed skin piece. DNA was isolated from the nerve tissue, cultured skin fibroblasts, and peripheral blood leukocytes. Polymerase chain reaction (PCR) followed by Sanger sequencing of PIK3CA was performed. Results Mutation analysis revealed the c.3140A>T (p.(H1047L)) variant of PIK3CA in the nerve tissue and the cultured dermal fibroblasts but not in leukocytes from the peripheral blood. Conclusion The somatic c.3140A>T (p.(H1047L)) variant of PIK3CA was found in a Thai patient with isolated macrodactyly, the same as those previously identified in other populations.

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confidence: 99%

A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report

et al. 2019

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Thumb and index finger macrodactyly with first carpometacarpal and scaphotrapezotrapezoidal joints fusion: inevitable consequence?

Cited by 1 publication

References 3 publications

A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report

A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report

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