macrodactyly

Macrodactyly, a often congenital anomaly, entails abnormal enlargement of digits, predominantly affecting hands or feet, either in isolation or as part of a syndromic condition. The authors present a case of Macrodystrophia Lipomatosa (ML), a form of macrodactyly, in a 62-year-old patient, emphasizing macrodactyly manifestations through clinical and radiological assessments. Additionally, the authors explore anatomical aspects related to nerve distribution in affected digits, providing a comprehensive understanding of ML...

Klippel-Trenaunay syndrome (KTS) is a rare genetic syndrome comprising an abnormal development of soft tissues and the lymphovascular system with bony overgrowth, venous malformation, and port wine stains. We present an interesting case of a three-year-old child brought to our hospital with a swollen limb and raised skin lesions associated with bleeding from minor trauma. Most of the clinical characteristics of KTS were seen in our patient, including arteriovenous, soft tissue, capillary, and lymphatic abnormalities...

Macrodactyly is a rare congenital anomaly characterized by disproportionate hypertrophy of one or more digits or the forefoot, involving some or all tissue types. It is nonhereditary and can present alone or alongside other deformities. Usually, macrodactyly is treated with amputation of the affected toe or finger to reduce the chance of recurrence. In this paper, we present the case of a child with macrodactyly who was treated successfully without amputation and instead with a reconstruction of the toe shape to resemble a near-natural-looking toe with intact functions...

PIK3CA -related disorders encompass many rare and ultra-rare conditions caused by somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is essential for cell cycle control. PIK3CA -related disorders include PIK3CA -related overgrowth spectrum (PROS), PIK3CA -related vascular malformations and PIK3CA -related non-vascular lesions. Phenotypes are extremely heterogeneous and overlapping. Therefore, diagnosis and management frequently involve various health specialists. Given the rarity of these disorders and the limited number of centers offering optimal care, the Scientific Committee of the Italian Macrodactyly and PROS Association has proposed a revision of the most recent recommendations for the diagnosis, molecular testing, clinical management, follow-up, and treatment strategies...

No abstract text is available yet for this article.

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...

BACKGROUND: The microsurgical technique has been used to dissect macrodactyly into a composite tissue flap with arteries, veins, and toenail phalanxes to reconstruct the deformed toe into a near-normal one. METHODS: This study retrospectively collected relevant data from ten patients undergoing toenail composite tissue flaps to reconstruct their macrodactyly. This case series included two female and eight male pediatric patients with a mean age of 27.2 months (8-64 months), who had been followed for average 24...

No abstract text is available yet for this article.

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is a rare slow-flow combined vascular malformation with limb hypertrophy. KTS is thought to lie on the PIK3CA-related overgrowth spectrum, but reports are limited. PIK3CA encodes p110α, a catalytic subunit of phosphatidylinositol 3-kinase (PI3K) that plays an essential role in the PI3K/AKT/mammalian target of rapamycin (mTOR) signaling pathway. We aimed to demonstrate the clinical utility of targeted next-generation sequencing (NGS) in identifying PIK3CA mosaicism in archival formalin-fixed paraffin-embedded (FFPE) tissues from patients with KTS...

UNLABELLED: Macrodactyly is an uncommon, not inherited congenital malformation of the digit with unknown prevalence and path of pathogenesis. The condition was described in 1940 and since then 107 cases were reported. Manifestations may mislead the diagnosis of hemangiomas and lymphangiomatosis. There are different options for treatment without a clear consensus. The authors are presenting a macrodactyly case that improved the quality of his life after he underwent surgical amputation of the toes...

BACKGROUND: Facial infiltrating lipomatosis (FIL) is a rare congenital disorder characterized by unilateral facial swelling, for which surgery is the prevailing therapeutic option. Several studies have shown that the development of FIL is closely associated with PIK3CA mutations. This study aimed to further identify rare clinical features and underlying molecular variants in patients with FIL. RESULTS: Eighteen patients were included in this study, and all patients presented with infiltrating adipose tissues confirmed by magnetic resonance imaging...

Lipomatosis of peripheral nerves (LPN, also known as fibrolipomatous or lipofibromatous hamartoma of peripheral nerves) is a very rare, benign, intraneural, tumorous lesion that predominantly involves the median nerve but may rarely affect any peripheral nerve. Recently, PIK3CA mutations have been reported in macrodactyly, a rare condition related to LPN, and in other localized lipomatous overgrowth syndromes. In this retrospective study, we report 6 cases of FPN involving the median nerve (4 of them identified among 570 patients with carpal tunnel syndrome who underwent surgical decompression at our center from 2012 to 2022 and two seen in consultation by one of the authors)...

Skin findings can be critical to determining whether a patient with lymphangioleiomyomatosis (LAM), a progressive pulmonary disease that predominantly affects adult women, has sporadic LAM or LAM in association with tuberous sclerosis complex (TSC). Three individuals with LAM underwent evaluation for TSC-associated mucocutaneous and internal findings. We used our previously published algorithm to confirm the clinical suspicion for mosaicism and guide the selection of tissue specimens and genetic workup. Next-generation sequencing of cutaneous findings was used to confirm clinical suspicion for mosaic TSC in individuals with LAM...

BACKGROUND: Treatment protocols for macrodactyly have not been elucidated due to its rarity and variety of clinical manifestations. This study aims to share our long-term clinical results of epiphysiodesis in children with macrodactyly. METHODS: A retrospective chart review was performed for 17 patients with isolated macrodactyly treated with epiphysiodesis over 20 years. Length and width of each phalanx in both the affected finger and the corresponding unaffected finger in the contralateral hand were measured...

Macrodystrophia lipomatosa is a rare form of nonhereditary congenital localized gigantism involving upper and lower limbs and is characterized by overgrowth of all the mesenchymal elements predominantly fibro-adipose component, in the distribution of a particular nerve, usually median nerve. It usually presents with progressive painless overgrowth of the involved limb, toe, or digit and is associated with macrodactyly. It might cause limitation of the movement of the involved part. Imaging has an important role in diagnosing this condition and differentiating it from malignant mimics...

The purpose of the study was to produce an algorithm and surgical procedure for optimum treatment of pedal macrodactyly. Surgery was performed on 27 feet of 26 patients with a mean age of 33 months at the time of surgery (range: 7-108 months). A multi-technique procedure based on the involved elements of the foot (soft tissue, phalanx, or metatarsal, or a combination of these) was adopted. The intermetatarsal width ratio, phalanx spread angle, and metatarsal spread angle was used to evaluate the severity of the macrodactyly and the effect of treatment...

No abstract text is available yet for this article.

BACKGROUND: Macrodystrophia lipomatosa (MDL) is characterized by progressive overgrowth affecting soft tissues and bony structures and is part of lipomatous overgrowth syndromes. MDL has been associated with lipomatosis of the nerve (LN), an adipose lesion of nerve that has a pathognomonic magnetic resonance imaging (MRI) appearance as well as a mutation in the PIK3CA gene. The authors present a case of occult LN in the setting of MDL. OBSERVATIONS: A 2-year-old boy with progressive soft tissue overgrowth of his proximal right lower extremity was initially diagnosed with neurofibromatosis type 1 (NF1)...

Somatic mutations occur frequently and can arise during embryogenesis resulting in the formation of a patchwork of mutant clones. Such mosaicism has been implicated in a broad range of developmental anomalies, however their etiology is poorly understood. Patients carrying a common somatic oncogenic mutation in either PIK3CA or AKT1, can present with disproportionally large digits or limbs. How mutant clones, carrying an oncogenic mutation that often drives unchecked proliferation can lead to controlled and coordinated overgrowth is unknown...

A 26-year-old man presented with congenital left thumb macrodactyly. MRI showed diffuse enlargement of the left median nerve from the wrist to the digits, with particularly severe swelling of the thumb; US revealed the median nerve swelling comprised enlarged hypoechoic nerve bundles and increased hyperechoic areas around the nerve bundles. These typical cable-like and spaghetti-like appearances led to the diagnosis of fibrolipomatous hamartoma (FLH). Only debulking was performed for cosmetic reasons and enlarged nerves contiguous to the skin of the distal phalanx were cauterized and dissected...