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.
DNA Mutational Analysis ; Fingers/abnormalities* ; Humans ; Infant, Newborn ; Limb Deformities, Congenital ; Mutation ; Toes

OBJECTIVE: To explore the genetic etiology of a pedigree affected with tricho-rhino-phalangeal syndrome. METHODS: Next-generation sequencing (NGS) using a gene panel for hereditary osteopathies was carried out for the proband. Suspected mutation was validated in the proband and her parents by Sanger sequencing. RESULTS: A heterozygous frameshift variation c.1995dupA (p.Gly666Argfs*20) of the TRPS1 gene was detected in the proband but not in her parents. CONCLUSION The novel c.1995dupA (p.Gly666Argfs*20) mutation of the TRPS1 gene probably underlies the disease in the proband.
DNA-Binding Proteins ; genetics ; Female ; Fingers ; abnormalities ; Frameshift Mutation ; Hair Diseases ; genetics ; Humans ; Langer-Giedion Syndrome ; genetics ; Nose ; abnormalities ; Pedigree ; Transcription Factors ; genetics

BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family. METHODS: Whole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control. RESULTS: We selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained. CONCLUSION: Among them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.
Alleles ; Brachydactyly* ; Carrier Proteins ; Congenital Abnormalities ; DNA ; Exome ; Fathers ; Fingers ; Foot ; Genetic Background ; Grandparents ; Hand ; Humans ; Metacarpal Bones ; Metatarsal Bones ; Mothers ; Parathyroid Hormone ; Parathyroid Hormone-Related Protein ; Penetrance ; Pseudopseudohypoparathyroidism* ; Toes

BACKGROUND: Camptodactyly refers to permanent flexion contracture at the proximal interphalangeal joint. Most cases are limited to fifth-finger involvement. Although common, the treatment of camptodactyly is controversial. Many published studies have emphasized conservative treatment, while others have described surgical procedures. The problem with this deformity is that it presents in several forms, which means that there is no single model for effective treatment. The aim of this paper is to present the difficulties encountered with this condition and the management thereof on an individual basis. METHODS: This is a case series of 14 patients (nine males, five females) who underwent surgical treatment. The results were classified using the method from Mayo Clinic as excellent, good, fair, and poor. RESULTS: Fourteen patients with 15 fingers underwent surgery, and the results achieved were as follows: excellent, 0; good, 1; fair, 6; poor, 8. The treatment of camptodactyly still remains controversial, and hence proper planning individualized to each patient is needed to achieve the maximal improvement with realistic goals. CONCLUSIONS: Although we performed individualised surgery, our careful follow-up was not able to identify any method as superior over another with respect to gain in extension and loss of flexion. We therefore propose that the extensor mechanism should not be disturbed during surgery to treat camptodactyly cases.
Ankylosis ; Congenital Abnormalities ; Contracture ; Fingers ; Follow-Up Studies ; Humans ; Joints ; Male ; Methods ; Plastics* ; Surgery, Plastic*

A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Base Sequence ; Developmental Disabilities ; diagnosis ; genetics ; Fingers ; abnormalities ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Microcephaly ; diagnosis ; genetics ; Muscle Hypotonia ; diagnosis ; genetics ; Mutation ; Myopia ; diagnosis ; genetics ; Neutropenia ; complications ; genetics ; psychology ; Obesity ; diagnosis ; genetics ; Psychomotor Disorders ; diagnosis ; etiology ; genetics ; Retinal Degeneration ; diagnosis ; genetics ; Vesicular Transport Proteins ; genetics

Distal radius fractures are a common upper extremity fracture and a considerable number of patients have a stable fracture. In the treatment of distal radius fractures, there is considerable disagreement regarding the need for a strict anatomical restoration with operation in elderly patients. Therefore, nonsurgical treatment is a still important treatment option in distal radius fractures. The radiological parameters of before or after manual reduction are important for deciding whether to perform operation or not. The radiological parameters include dorsal angulation of the articular surface, radial shortening, extent of dorsal comminution, intra-articular displacement, concomitant ulnar metaphyseal fracture, shear fracture, and fracture-dislocation of the distal radio-ulnar joint. In addition, clinical situations of patients, including age, activity level, underline disease, and recovery level, which the patients wish should be considered, comprehensively. For the duration of a splint or cast, three to four weeks are recommended in impacted or minimally displaced fractures and five to six weeks in displaced fractures. After reduction of the displaced fractures, patients should undergo a radiologicical examination every week to check the redisplacement or deformity of the fracture site until two or three weeks post trauma. Arm elevation is important for controlling fracture site swelling and finger exercises, including metacarpophalangeal joint motion, are needed to prevent hand stiffness. Active range of motion exercise of the wrist should be initiated immediately after removing the splint or cast.
Aged ; Arm ; Congenital Abnormalities ; Exercise ; Fingers ; Hand ; Humans ; Joints ; Metacarpophalangeal Joint ; Radius Fractures ; Radius ; Range of Motion, Articular ; Splints ; Upper Extremity ; Wrist

Objective: The number of children with polydactyly is increasing. In addition to genetic factors, an influence of maternal behavior or environmental effects during pregnancy is becoming increasingly apparent. However, epidemiological data on these effects are lacking. Methods: This hospital-based, case-control study enrolled 143 infants with polydactyly and 286 controls without genetic diseases to evaluate the association between active and passive maternal smoking during pregnancy and the likelihood of giving birth to a child with polydactyly. Results: Active and passive maternal smoking during pregnancy was associated with an increased risk of giving birth to a child with polydactyly (active smoking: OR=4.74, 95%CI: 1.43-15.65, P=0.011; passive smoking: OR=2.42, 95%CI: 1.32-4.44, P=0.004). After adjusting for confounders, smoking during pregnancy remained significant influence on polydactyly (active smoking: aOR=7.27, 95%CI: 1.72-30.72, P=0.007; passive smoking: aOR=2.41, 95%CI: 1.11-5.23, P=0.026). Conclusion: Active and passive maternal smoking during pregnancy appears to be a risk factor for polydactyly in newborns.
Case-Control Studies ; Child ; Female ; Fingers/abnormalities* ; Humans ; Infant ; Infant, Newborn ; Inhalation Exposure/statistics & numerical data* ; Maternal Exposure/statistics & numerical data* ; Polydactyly/epidemiology* ; Pregnancy ; Pregnancy Complications/etiology* ; Risk Factors ; Smoking/adverse effects* ; Tobacco Smoke Pollution/statistics & numerical data*

Extraskeletal chondromas are benign soft tissue tumor of hyaline cartilage. These tumors are rare and the pathogenesis is unclear. They are usually involves the hand or feet. We report the case of extraskeletal chondroma arising from subungual region of the finger with nail deformity and review of the literature.
Chondroma* ; Congenital Abnormalities* ; Fingers ; Foot ; Hand ; Hyaline Cartilage

PURPOSE: Metacarpal fracture of a ring and little finger occurs frequently. Percutaneous intramedullary fixation is a simple and effective method with a low incidence of complications. To date, Kirschner wire (K-wire) fixation has been widely used, but this has problems such as pin infection. Moreover it is difficult to start early active motion exercise. So, we replaced the K-wire with a bioresorbable implant and evaluated the results. METHODS: This study was conducted from 2014 to 2016 and involved 10 consecutive patients with 10 metacarpal neck fractures. All cases underwent percutaneous intramedullary fixation using the ActivaPin (Bioretec Ltd.) within 7 days after injury, and the average follow-up period was 13 months. At the final follow-up, all cases were assessed in terms of total active motion (TAM), bony union and angular deformity based on plain radiographs. RESULTS: The patients started active motion exercise within 1 week and regained a full range of motion after average 4 weeks. The TAM results were excellent at 250° to 270° in all cases. Regarding radiographic findings, fractures united in all cases and there were no malunion and knuckle deformity. CONCLUSION: Replacement of a K-wire with a bioresorbable pin prevented soft tissue damage and dorsal scarring. And our percutaneous intramedullary bioresorbable pin fixation technique resulted in early recovery of range of motion and correction of deformity. The patients regained range of motion and returned to daily life early.
Absorbable Implants ; Cicatrix ; Clinical Study* ; Congenital Abnormalities ; Fingers ; Follow-Up Studies ; Fracture Fixation ; Fractures, Bone* ; Humans ; Incidence ; Metacarpal Bones ; Methods ; Neck ; Range of Motion, Articular

BACKGROUND: In 2015, workers dismantling a fluorescent lamp factory in Korea were affected by mercury poisoning from exposure to mercury vapor. CASE PRESENTATION: Eighteen out of the 21 workers who participated in the demolition project presented with symptoms of poisoning and, of these, 10 had persistent symptoms even at 18 months after the initial exposure to mercury vapor. Early symptoms of 18 workers included a general skin rash, pruritus, myalgia, sleep disturbance, and cough and sputum production. Following alleviation of these initial symptoms, late symptoms, such as easy fatigue, insomnia, bad dreams, and anxiety disorder, began to manifest in 10 out of 18 patients. Seven workers underwent psychiatric care owing to sleep disturbance, anxiety disorder, and depression, and three workers underwent dermatologic treatment for hyperpigmentation, erythematous skin eruption, and chloracne-like skin lesions. Furthermore, three workers developed a coarse jerky movement, two had swan neck deformity of the fingers, and two received care at an anesthesiology clinic for paresthesia, such as burning sensation, cold sensation, and pain. Two workers underwent urologic treatment for dysfunction of the urologic system and impotence. However, symptomatic treatment did not result in satisfactory relief of these symptoms. CONCLUSION: Awareness of the perils of mercury and prevention of mercury exposure are critical for preventing health hazards caused by mercury vapor. Chelation therapy should be performed promptly following mercury poisoning to minimize damage.
Anesthesiology ; Anxiety Disorders ; Burns ; Chelation Therapy ; Congenital Abnormalities ; Cough ; Depression ; Dreams ; Erectile Dysfunction ; Exanthema ; Fatigue ; Fingers ; Humans ; Hyperpigmentation ; Korea ; Male ; Mercury Poisoning* ; Myalgia ; Neck ; Occupational Exposure ; Paresthesia ; Poisoning ; Pruritus ; Sensation ; Skin ; Sleep Initiation and Maintenance Disorders ; Sputum