Clinical characteristics of 170 cases of macrodactyly / 北京大学学报(医学版)

OBJECTIVE@#To analyze the clinical characteristics of 170 cases of macrodactyly.@*METHODS@#Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed.@*RESULTS@#Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative.@*CONCLUSION@#Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.

Cavernous Lymphangioma of the Digits: A Rare Cause of Macrodactyly

@#Cavernous lymphangioma is a congenital malformation of lymphatic system causing dilated lymphatic sinuses that involve the skin and subcutaneous tissues. This was an interesting case of dystrophic macrodactyly of the left ring and little finger in a 18-month-old girl who presented with swollen and sausage like fingers deformity which turned out to be an isolated cavernous lymphangioma. This tumor, although rare to occur in the extremeties, must be differentiated from other congenital vascular lesions of the hand that include arteriovenous malformations and hemangiomas. Diagnosis should be solely based on histopathological analysis of the excised tissue mass. Surgical excision is usually necessary for satisfactory functional and cosmetic outcome.

Isolated Progressive Congenital Left Thumb Macrodactyly : Case Report and Literature Review

@#Isolated progressive macrodactyly belongs to a heterogeneous group of congenital overgrowth syndromes, resulting in enlargement of all tissues localized to the terminal portions (fingers or toes) of a limb. The aim of this case report is to create further awareness among physicians on this rare clinical entity and present a short review of the literature. We present the case of a 10-year-old Nigerian girl with a history of progressive overgrowth of left thumb since birth. The patient‟s facies and body habitus were normal without hemihypertrophy. Anthropometric measurements of the child‟s hands, revealed an overgrowth of the left thumb compared with the right. The child had no café-au-lait spots or any other skin lesions. The radiograph of the hands revealed increase in size of both soft tissue and phalangeal bones (enlongated and broadened) of the left thumb. A diagnosis of isolated progressive left thumb macrodactyly was made and the patient was referred to the orthopaedic surgeon for surgical intervention. The child and her parents suffered psychological distress. Isolated progressive macrodactyly is very rare but it is cosmetically displeasing to the child, resulting in psychological distress.

Macrodactilia / Macrodactylie / Macrodactyly

Se presenta un paciente con macrodactilia progresiva del segundo y el tercer dedos de la mano derecha al cual se le realizó una amputación en rayo del segundo y tercer dedos con transposición de la base del cuarto metacarpiano a la base del tercero. El paciente presentó una evolución posoperatoria favorable con una estética y función de la mano aceptables(AU)

We present a male patient with progressive macrodactyly of the second and third fingers of the right hand. A ray amputation was made in the second and third fingers with transposition from the base of the fourth metacarpal to the base of the third. The patient had favorable postoperative evolution, with acceptable aesthetic and hand function(AU)

Un patient atteint de macrodactylie progressive du deuxième et troisième doigt de la main droite, ayant subi une amputation du deuxième et troisième rayon digital et une transposition de la base du quatrième métacarpien à la base du troisième, est présenté. Il a eu une évolution postopératoire favorable, avec esthétique et fonction acceptables(AU)

X-ray and computed tomography findings in macrodystrophia lipomatosa of the foot with secondary osteoarthritic changes diagnosed in an elderly female: a case report / Achados de raios X e tomografia computadorizada na macrodistrofia lipomatosa do pé com alterações osteoartríticas secundárias diagnosticadas em mulher idosa: relato de caso

Abstract Macrodystrophia lipomatosa is a rare entity that is mostly diagnosed in children. It has been very rarely reported in adults. Here, we describe the X-ray and computed tomography findings in a case of macrodystrophia lipomatosa in an elderly female presenting with an enlarged second toe since birth and bony outgrowths causing pressure effects and cosmetic problems.

Resumo A macrodistrofia lipomatosa é uma entidade rara, principalmente diagnosticada em crianças, e pouquíssimo relatada em adultos. Descrevemos os achados de radiografia e tomografia computadorizada em um caso de macrodistrofia lipomatosa em uma mulher idosa que apresentava um segundo dedo do pé aumentado desde o nascimento e crescimentos ósseos que causavam efeitos de pressão e problemas cosméticos.

Signature Genes in Macrodactyly through Transcriptome Network Analysis Reveal their Association of Lipid Metabolism / 체질인류학회지

Macrodactyly is one of the most difficult hand anomalies to treat not only surgically but medically as well. Little is known about the molecular pathways and lipid metabolism of this disease. To elucidate the potential mechanism of macrodactyly progress, we used the bioinformatical analysis including quantile normalization, principal component analysis, heatmap and volcano plot. For the functional bioinformatical study, lipid, lipoprotein and phospholipid metabolism of Kyoto Encyclopedia of Genes and Genomes, Wiki Pathways, and Reactome Pathway were utilized to compare the differentially expressed genes in macrodactyly with control group. We found up-regulation of CDK6 and E2F1, which are associated with the mitotic cell cycle of cancer cells. PIK3CG, associated with cancer and lipid metabolism, was also enriched in macrodactyly. In down-regulated genes, PTEN was highlighted in lipid metabolism, phosphatidylinositol signaling system and insulin signaling. ABCD3, related in peroxisomal import of fatty acids, was also down-regulated. In this study, we predicted the pathogenic candidate genes as well as the potential molecular pathways related to macrodactyly by identifying the signature genes. Signature genes through systems bioinformatical analysis can be utilized to catch the insight of the molecular pathogenesis of macrodactyly.

Lipofibromatous hamartoma of the digital branches of the median nerve presenting as carpal tunnel syndrome: A rare case report with review of the literature.

Lipofibromatous hamartoma (LFH) is a rare, benign fibrofatty tumor composed of a proliferation of mature adipocytes within peripheral nerves, which form a palpable neurogenic mass. It affects the median nerve in 66–80% of cases, causing pain and sensory and motor deficits in the affected nerve distribution. Patients typically present with gradually enlarging nontender lesions in the distribution of the affected nerve. The lesion is also seen to be associated with macrodactyly. The pathophysiology of LFH is unknown. Treatment of LFH is based on symptoms of the condition. Histopathology is characteristic. We present a case of young male diagnosed as lipofibromatous hamartoma of the median nerve involving the right index finger. The case is presented due to its rarity.

Single Stage Reduction Operation for Treatment of Toe Macrodactyly in Skeletally Immature Patients / 대한정형외과학회잡지

Macrodactyly is one of the most difficult congenital anomalies to treat. Treatment of macrodactyly requires surgical intervention because it gives rise to esthetic, social, and functional disability including difficulty in wearing shoes. A myriad of surgical techniques has been introduced to reduce the size of macrodactyly. However, treatment of toe macrodactyly has not been spotlighted due to less significant functional and social issues compared with finger macrodactyly. We treated two patients with toe macrodactyly by single stage reduction operation.

Proteus syndrome: Clinical profile of six patients and review of literature.

OBJECTIVE: Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients. MATERIALS AND METHODS: Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome. RESULTS: Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood. CONCLUSION: Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.

Treatment of Congenital toe Anomalies / 대한족부족관절학회지

There are many different type of congenital toe anomalies such as syndactyly, polydactyly which are more common, and less frequently macrodactyly and curly toe. Congenital anomaly of hand can decrease the hand function and easy to be visualized, so the early treatment of anomaly is natural and recommended. On the other hand, Congenital anomaly of foot rarely decrease the foot function and was hidden in the shoe, so treatment of anomaly was delayed frequently. However, the surgery can be needed, as the foot getting grown-up, discomfort of shoe fitting or intractable plantar keratosis due to secondary deformation of foot can occur. A distinct feature and surgical consideration was compared with congenital anomaly of hand and it should be taken into account in the treatment of adult toe anomalies.

Pollicization: The Concept, Technical Details, and Outcome

Pollicization substitutes a functioning finger for a deficient thumb. The most indication is thumb hypoplasia with absence or instability of the carpometacarpal joint. However, there are additional causes that may negate thumb function, such as trauma, macrodactyly, multi-fingered hand, and a mirror hand. The technique of pollicization represents a consolidation of contributions from surgeons over the last 100 years. A meticulous stepwise approach from incision to closure is necessary to optimize outcome. Following pollicization, cortical plasticity and motor relearning play a pivotal role in function following pollicization with connections and adjacent sprouting from nearby cortical and/or subcortical territories. Occupational therapy is necessary to encourage large object acquisition followed by smaller objects and ultimately fine pinch. Pollicization is more reliable in patients with isolated thumb hypoplasia and a mobile index finger with robust extrinsic and intrinsic muscle-tendon units compared to and patients with radial forearm deficiencies and diminished index mobility.

Pollicization: The Concept, Technical Details, and Outcome

Pollicization substitutes a functioning finger for a deficient thumb. The most indication is thumb hypoplasia with absence or instability of the carpometacarpal joint. However, there are additional causes that may negate thumb function, such as trauma, macrodactyly, multi-fingered hand, and a mirror hand. The technique of pollicization represents a consolidation of contributions from surgeons over the last 100 years. A meticulous stepwise approach from incision to closure is necessary to optimize outcome. Following pollicization, cortical plasticity and motor relearning play a pivotal role in function following pollicization with connections and adjacent sprouting from nearby cortical and/or subcortical territories. Occupational therapy is necessary to encourage large object acquisition followed by smaller objects and ultimately fine pinch. Pollicization is more reliable in patients with isolated thumb hypoplasia and a mobile index finger with robust extrinsic and intrinsic muscle-tendon units compared to and patients with radial forearm deficiencies and diminished index mobility.

Proteus Syndrome: A Natural Clinical Course of Proteus Syndrome

A 16-year-old Korean male patient presented with macrodactyly, hemihypertrophy of the face and extremities, plantar cerebriform hyperplasia, a subcutaneous mass of the left chest, macrocephaly and verrucous epidermal nevi. These findings are consistent with Proteus Syndrome. The clinical features, etiology, management, natural course and differential diagnosis of this case are discussed.

Lipofibromatous Hamartoma of Median Nerve with Carpal Tunnel Syndrome: A Case Report

Lipofibromatous hamartoma of median nerve is an extremely rare tumor that involves the palmar aspect of the hand, wrist and distal forearm. Other terms to describe this condition include macrodystopia lipomatosa of median nerve and median nerve territory-oriented macrodactyly. Lipofibromatous hamartoma is the most common condition associated with macrodactyly in the hand Also it most commonly involves the median nerve and is one of the causes of carpal tunnel syndrome. We present a review of our experience with this unusual neoplasm and give a detailed follow-up on patient treated by surgical exploration with carpal tunnel release.

Proteus Syndrome: A Case Report

The Proteus syndrome is a recently described congenital harmatosis consisting of numerous clinical features of great variety. Mainly affected are the musculoskeletal system, primarily by hemihypertrophy, macrodactyly, exostoses and kyphoscoliosis, and the skin and the subcutaneous tissue, primarily by pigmented nevi and subcutaneous tumors. These findings are diagnostic features of Proteus syndrome. We report typical manifestations of Proteus syndrome in a 12-year-old boy with brief review of literature.

Clinical Study of Macrodactyly / 대한정형외과학회잡지

No abstract available in English.