Congenital difference of the hand and foot: Pediatric macrodactyly

Gasteratos, Konstantinos; Spyropoulou, Georgia‐Alexandra; Yin, Fang‐Fang; Rui, Yong Jun

doi:10.1016/j.bjps.2022.06.059

Cited by 4 publications

(10 citation statements)

References 43 publications

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“…Macrodactyly, characterized by increased soft tissue and/or bone of one or more digits or parts of the body, is a rare congenital condition with an incidence rate of 0.035% among all musculoskeletal defects [ 6 , 7 ]. Macrodactyly of the hand is even more infrequent as compared with macrodactyly of the foot [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…This was later replaced by the concept of ‘Nerve territory-oriented macrodactyly’ which attributed the excessive and unimpeded digital enlargement to an abnormal nerve supply [ 13 ]. However, the true etiology in most cases of isolated macrodactyly remains unknown [ 6 ]. Wu et al .…”

Section: Discussionmentioning

confidence: 99%

“…The wide and diverse clinical spectrum is attributed to the variation in timeline of the somatic mutation that can occur at any point in the embryonic development [ 5 ]. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%–1% of all congenital anomalies of the upper limb [ 6 ]. Unilateral macrodactyly of fingers is classified as a rare subtype of PROS (ORPHANET:295239).…”

Section: Introductionmentioning

confidence: 99%

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PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly

Krishnamurthy,

Edema,

Ustun

et al. 2023

Journal of Surgical Case Reports

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PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%–1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly

Krishnamurthy,

Edema,

Ustun

et al. 2023

Journal of Surgical Case Reports

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“…The enlargement can affect all tissues, including bones, muscles, adipose, and nerves. It may impair limb function and inflict significant psychological stress on both children and their families [1,2]. It can be an isolated disorder or part of a syndrome [1,2].…”

Section: Introductionmentioning

confidence: 99%

Macrodactyly

Giżewska-Kacprzak,

Śliwiński,

Nicieja

et al. 2024

Children

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Macrodactyly is a rare congenital limb difference manifesting as an overgrowth of one or more fingers or toes. The pathological process affects all tissues of the ray in the hand or foot. The enlargement can significantly alter the limb’s appearance and impair its function. The role of a pediatrician is to distinguish isolated macrodactyly from syndromic conditions (including PIK3CA-Related Overgrowth Spectrum) or mimicking conditions to enable early interdisciplinary consultation and treatment planning. The psychological stigma associated with this often disfiguring condition necessitates support for patients and their family. We present a practical guide for physicians who might be the first to raise suspicion of macrodactyly and initiate further diagnostics to achieve adequate treatment and support for children and caregivers.

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“…Overgrowth syndromes constitute a diverse group of clinical and genetically characterized conditions and have historically been distinguished by either an elevation in patient height, weight, and/or head circumference surpassing three standard deviations from the mean or exceeding the 99th percentile growth chart, in comparison to age and sex-matched controls. This classification has evolved over time to encompass a broader spectrum of conditions, which include manifestations arising from postzygotic somatic mosaic anomalies, such as hemimegalencephaly, lateralized overgrowth, and isolated macrodactyly [1,2,3 ▪▪ ,4]. These syndromes have historically been identified based on the consistent combination of symptoms present.…”

Section: Introductionmentioning

confidence: 99%

Overgrowth syndromes, diagnosis and management

Klein,

Nisbet,

Kalish

2023

Current Opinion in Pediatrics

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Purpose of review This review will focus on the current knowledge of the diagnosis and management of overgrowth syndromes with specific focus on mosaic conditions and treatment strategies. Recent findings With the implementation of massively parallel sequencing, the genetic etiology many classically described overgrowth syndromes has been identified. More recently, the role of mosaic genetic changes has been well described in numerous syndromes. Furthermore, the role of imprinting and methylation, especially of the 11p15 region, has been shown to be instrumental for growth. Perhaps most importantly, many overgrowth syndromes carry an increased risk of neoplasm formation especially in the first 10 years of life and possibly beyond. The systematic approach to the child with overgrowth will aide in timely diagnosis and efficient alignment them with appropriate screening strategies. In some cases, precision medical interventions are available to target the perturbed growth signaling pathways. Summary The systematic approach to the child with overgrowth aids in the standardization of the diagnostic pathway for these young patients, thereby expediting the diagnostic timeline, enabling rigorous monitoring, and delivering tailored therapeutic interventions.

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Congenital difference of the hand and foot: Pediatric macrodactyly

Cited by 4 publications

References 43 publications

PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly

PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly

Macrodactyly

Overgrowth syndromes, diagnosis and management

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