Pediatric thumb flexion deformities.
Normal Thumb Development, Anatomy, and Function
The infant in the first few months of life will often hold the thumb in the palm, usually under the other four fingers, and it is important to recognize that this posturing can be completely normal in the first few months of life. (1) Jaffee and coworkers (1) examined closely this posturing to determine when it typically resolved. They sequentially examined 200 newborn infants, born at full term with a normal pregnancy, birth weight, and Apgar scores. The infants were followed throughout the first year of life. They observed this "thumb-in-fist" posturing in 125 of the 200 infants at birth, with all patients having a disappearance of the posturing by 7 months of age. The average age of disappearance was at 1.35 months. The only significant correlation they found was a language delay in those infants with disappearance the "thumb-in-fist" posturing between 3 and 7 months, although this was not followed past 1 year of age.
It is important to note a few reflexes that should be present in normal infants, which can aid in the evaluation of normal hand form and function in the infant. The palmar grasp reflex is elicited by toughing the ulnar aspect of the palm, and all fingers should close tightly. (2) This is also found in the foot with a similar reflex termed the plantar grasp reflex. The palmar grasp reflex typically disappears by 6 months of age in a term infant. (2) Absence could reflect peripheral nerve or spinal cord abnormalities while an exaggerated response or prolonged retention of the reflex could reflect upper brain lesions such as cerebral palsy. (2)
Another important reflex to observe is the Moro reflex. It is elicited by a slight drop of the infants head relative to the body axis while the infant is in the supine position and should be tested while the infant is awake, not crying, and when both hands are open. (2) A positive reflex is indicated by spinal extension, head retraction, shoulder abduction, and elbow extension, with the forearms supinating and all fingers and thumb extending. A reliable response persists until about 3 months and disappears by 6 months. (2) It is important to take note of the presence or absence of the reflex and note any asymmetry, which is often present with clavicle fractures. Specifically in regard to pediatric trigger thumb or congenital clasped thumb, note thumb extension with the maneuver.
Gessell and Halverson (3) extensively studied the development of grasping and opposition in the human infant to observe when infants started using their thumbs in a more opposable fashion. By presenting infants with various objects, such as a rod, ball, or cube, they determined the progression of infantile prehensile function throughout the first year of life. During the first year, the infant begins manipulating objects first using the more ulnar side of the hand and fingers to using the more radial sided index and middle fingers as well as the thumb. Thumb usage transitions from primarily adduction to more volar opposition, which occurred on average around 7 months. They described a continuum of thumb development, with the first stage consisting of pre-pivotal adduction in which the thumb basically acts in line with the other digits, to mesial opposition in which the infant begins bringing the thumb out of the palm contacting the objects with the side of the thumb. Mesial opposition began at around 4 months. (3) Full volar opposition was predominant by 12 months.
In terms of motion, the thumb has many degrees of freedom compared to the other digits. (4) Flexion and extension is in the plane of the palm, with extension also referred to as radial abduction. Abduction and adduction is in a plane perpendicular to the palm, with abduction also referred to as palmar abduction. Some degree of rotation in pronation and supination is afforded mostly at the carpometacarpal joint. Opposition involves the simultaneous motions of abduction, flexion, and pronation. (4)
Proximally, the most mobile of the thumb joints is the trapeziometacarpal joint. It is a delicate balance between mobility and stability composed of two reciprocally opposed saddles with perpendicular longitudinal axes, thus allowing flexion and extension and abduction and adduction in the same joint. (4, 5) It also allows for some rotation. It is stabilized by four ligaments: anterior oblique, intermetacarpal, radial collateral, and posterior oblique ligaments. The most important of these for stability is the deep anterior oblique or volar beak ligament. (4, 5) Distally the metacarpophalangeal joint and the interphalangeal joint function as hinges, with stability progression distally at the expense of mobility.
The extrinsic musculature of the thumb consists of the flexor pollicis longus (FPL), innervated by the anterior interosseous nerve, and the extensor pollicis longus (EPL), extensor pollicis brevis (EPB), and the abductor pollicis longus (APL), all innervated by the posterior interosseous nerve. The FPL inserts on the volar thumb distal phalanx base, APL on the thumb metacarpal base, EPB on the thumb proximal phalanx base, and the EPL on the thumb distal phalanx base.
The intrinsic musculature of the thumb consists of the abductor pollicis brevis and the flexor pollicis brevis, with its deep and superficial heads separated by the FPL tendon. Both insert on the radial aspect of the thumb proximal phalanx base, metacarpophalangeal joint capsule, and radial sesamoid with expansions to the dorsal hood. (4) The APB is by far the most important muscle for opposition. (4) The opponens pollicis is deeper and more radial and inserts along the radial aspect of the thumb metacarpal and functions more to flex the first metacarpal, aiding the APB in opposition. (4, 6) The adductor pollicis has a transverse and oblique heads, which insert onto the ulnar aspect of the thumb proximal phalanx, ulnar sesamoid, and dorsal hood, and functions primarily to adduct the thumb. This radial insertion of APB, FPB, and opponens pollicis aids in thumb pronation, which is balanced out by the ulnar insertion of the adductor pollicis, which supinates. (4, 6) The first dorsal interosseous can also be considered as a thumb intrinsic muscle. (4)
There are two main types of grip used by humans, the power grip and the precision grip. (7, 8) Power grip is a static, forceful grip. The hand acts as a clamp, holding the object between the partly flexed fingers and palm, with the thumb adducted, stabilizing the object with counter pressure in the plane of the palm. (7) With power grip, the hand is kept stable and movements are generated from the wrist, forearm, and elbow. Examples of the power grip include the cylindrical grip and the hook grip. (7) On the other hand, precision grip is a dynamic grip in which the object is not in contact with the palm but is manipulated between the opposed thumb and fingers. (7) Examples include palmar pinch, lateral pinch, and tip-to-tip pinch. Both grips can even be seen in the same hand during certain tasks. (7)
Evolutionary Development of the Human Thumb
The thumb is essentially a compromise over time, a change from a locomotor organ transformed into a manipulative organ for stone tool use as humans began to walk upright. (9) Manipulation of ancient tools, such as bones, stones, and wood, required the ability to conform the hand to specific shapes and sizes and to tolerate large stresses led to the slow evolutionary development of the modern human thumb. (9, 10) However, some contend that the hand developed more from the need for throwing and clubbing prowess, which yielded a reproductive advantage and drove natural selection, as evidenced by modern humans two main grips: the "clubbing" or power grip and the "throwing" or precision grips. (11)
Regardless of the drive for evolutionary development of the thumb, humans share many features with other more primitive mammals and apes. Many species of apes have thumb opposition, as it likely arose from ancient mammalians need to grasp small branches. (9) A saddle joint between the trapezium and first metacarpal has also been found in many marsupial, insectivore, and primate species. (9) Lastly, humans and primates also share a full set of intrinsic thumb musculature. (9)
However, humans have a separate origin for the flexor pollicis muscle, which is separate from the flexor digitorum superficialis, thus allowing early humans to flex the thumb independently of the other fingers. (9) Some apes even lack a FPL muscle. Humans also developed a broader volar pad and tuft on the thumb distal phalanx, which better distributes the pressure needed during forceful grasping and accommodating uneven surfaces. (9) Humans also have an increased relative thenar muscle mass and increased thenar muscle strength compared to our closest relatives, in addition to a relatively long thumb compared to the length of the hand, making precision grip and opposition easier. (9) Finally, humans also developed a broader and flatter surface area for the trapeziometacarpal joint, which afforded more mobility at the expense of stability and was likely protective due to the large axial forces associated with forceful precision and pinch grasp. (9, 10)
Pediatric Trigger Thumb
Pediatric trigger thumb is characterized by persistent flexion of the thumb interphalangeal joint and typically presents at around 2 years of age but can go unnoticed for years. (12-18) Often it is manifested as locked flexion at the IP joint, with triggering less common as in the adult counterpart. (12, 13, 17) Although a history of trauma is not common, the child can often be referred for evaluation of a thumb fracture or dislocation. (12) The etiology of pediatric trigger thumb considered to be due to a size mismatch between the FPL tendon and the pulley system. (12, 17) Around a quarter of the time, it occurs bilaterally, and unlike the adult counterpart where females predominate, the sex incidence is essentially equal. (13-17) The incidence of pediatric trigger thumb is around 3 in 1,000 live births, (19) and also unlike adults, the etiology is not inflammatory in nature. (20, 21)
On physical examination, although most patients will present with locked IP flexion, some patients will have difficulty with extension of the IP joint of the thumb with snapping or clicking. Table 1 shows the percentage of patients presenting in locked IP flexion across various previous studies. (22-33) Typically, there is a palpable volar mass at the level of the IP joint, which represents an enlargement of the FPL tendon and is historically referred to as Notta's node. (12, 34) Radiographs are normal and are not necessary for diagnosis.
Anatomy and Classification
In terms of classification, Ogino (35) gave a succinct classification consisting of four stages. Stage I is characterized by a palpable Notta's nodule with no triggering or snapping. In stage II, triggering is present, but the IP joint can be extended actively. In stage III, there is also triggering, but only passive IP extension can be obtained. Lastly, stage IV represents those presenting with the IP joint locked in flexion. Watanabe and colleagues (32) also published a similar classification that is used in the literature.
The thumb flexor pulley system differs from the pulley system found in the fingers. Doyle and Blythe (36) characterized the thumb pulley anatomy from adult cadaver dissection and showed three pulleys: the A1 over the MP joint, the oblique over the thumb proximal phalanx, and the A2 over the IP joint. Later, Bayat and associates (37) further described the existence of a variable annular pulley in between the oblique and A1 pulleys. They described three types based on the location of this variable annular pulley: being separate, fused or obliquely oriented. Most recently, Schubert and coworkers (38) confirmed these earlier findings through cadaver dissections showing the existence of the variable annular pulley in 93% of hands. The variable annular pulley was confirmed to be present in 11 of 16 pediatric patients in a study by van Loveren and van der Biezen, (39) but Kuo and Rayan (24) commented that they did not appreciate the variable annular pulley in any of their 24 patients. Therefore, it is unclear whether these adult studies on pulley anatomy apply to children, and no anatomical cadaver studies of the pediatric patient's thumb pulley system have been performed.
Congenital Versus Acquired
Probably the most debated concept in pediatric trigger thumb has been whether the pathologic entity is congenital or developmental. Some investigators (13) consider the term "congenital" a misnomer. However, many case reports (40-44) exist showing occurrence in twins, which suggest a congenital etiology. Bollinger and Fahey (40) mentioned two of their patients with trigger thumb in fraternal twins. Neu and Murray (41) discussed identical twins with bilateral thumb, long, and ring finger trigger digits which were present since 6 months of age. Thomas and Dodds (42) reported on identical twins with bilateral trigger thumbs since 8 months of age. Kakel and colleagues (43) noted twins with bilateral trigger thumbs. And, Wang and associates (44) noted identical twins with opposite sided trigger thumbs occurring at differing ages. However, Caldwell and coworkers (45) recently reported on monozygotic twins, one of which had bilateral trigger thumbs at 22 months of age, and the other twin with no abnormalities at 9-month follow-up.
The role of genetics in the etiology of pediatric trigger thumb has also been explored, with Weber (46) first reporting on the incidence in successive generations of a father and son. Later, van Genetchen (47) describing an extensive family history of pediatric trigger thumb in a family with six affected individuals in three successive generations. Vyas and Sarwahi (48) described the occurrence of bilateral trigger thumbs in a mother and her 3 year old child. Shim and associates (49) even reported on a family with pediatric trigger thumb, proposing a possible autosomal dominance with incomplete penetrance inheritance pattern.
Even though there are multiple case reports of twin occurrence and familial prevalence, both suggesting a congenital etiology, there has not been a documented case of trigger thumb present at birth. Dinham and Meggitt (15) in 1974 reported their experience with treating 105 patients with trigger thumb, of which they noted 26 were present at birth. However, none of these were confirmed by physician exam at the time of birth and were based on interview of the parents. Rodgers and Waters (50) were the first to critically look at the presence of trigger thumb at birth in an attempt to clarify the incidence. After prospectively examining 1,046 newborns, they found no instance of triggering, Notta's nodules, or locked IP flexion. Furthermore, Slakey and Hennrikus, (30) Moon and associates, (51) and Kikuchi and Ogino, (19) all subsequently examined thousands of newborns at birth, none finding an instance of trigger thumb at birth. Kikuchi and Ogino (19) even followed the screened cohort of patients and observed the development trigger thumb in 2 patients of the 601 that followed up in 1 year, giving an incidence of 3.3 in 1,000 live births. Therefore, with over 14,000 infants being screened and no trigger thumbs present at birth, the etiology is not congenital but develops during the first few months to years of life.
Interestingly, there is evidence suggesting there might be differences in incidence between ethnic groups. Ashford and Bidic (52) found a higher incidence of trigger thumb in their clinic population in Hispanic patients, which was statistically significant. They also found a lower incidence among African Americans.
Causes of pediatric trigger thumb have been attributed to many different factors, such as trauma, thumb-sucking, enlarged sesamoid bones, intrauterine thumb flexion, and various anatomical variations. (30) Two previous investigators (33, 53) in the past have shown pathology consistent with inflammation, concluding that the etiology was inflammatory and post traumatic. Spreecher (53) showed one case of microscopic histology of a Notta's nodule with many monocytes and lymphocytes, consistent with traumatic inflammation. Fahey and Bolliner (33) found collagenous degeneration and synovial proliferative changes in the tendon on histology.
However, more recent larger studies (20, 21, 54) have failed to find an etiology consistent with inflammation. Buchman and colleagues (21) examined specimens from nine patients under transmission electron microscopy of the tendon nodule and A1 pulley and found normal appearing fibroblasts with surrounding collagen. They found no evidence of infection, acute or chronic inflammation, or degenerative or immune changes, concluding that the etiology was not traumatic or inflammatory. Similarly, Khoshhal and coworkers (20) examined 23 A1 pulley specimens from patients after surgery for trigger release under electron microscopy and immunohistochemistry. They found that all specimens stained positive for vimentin and alpha-smooth muscle actin and negative for desmin. Vimentin reflects the active proliferation of fibrous tissue that was also seen on electron microscopy with dense spindle shaped fibroblasts in a collagenous matrix. This was consistent with the presence of myofibroblasts, which have been implicated in a variety of disorders, classified as repair process, proliferative, and desmoplastic response to tumors. (20)
Verma and associates (54) even prospectively examined patients with pediatric trigger thumb, observing both the normal and abnormal sides serially. They found a normal echotexture of the flexor pollicis longus tendon in all thumbs, no inflammation, or evidence of trauma. They noted that triggering always occurred at the A1 pulley. Thickening was noted in the FPL tendon at the location of the A1 pulley, which persisted after A1 pulley release. They concluded that the inciting incident in pediatric trigger thumb was enlargement of the FPL tendon, causing a mismatch between the size of pulley and size of the tendon. Although the etiology is still unclear, it is likely not due to trauma or inflammation.
Determining the natural history of pediatric trigger thumb is difficult, mainly due to the wide heterogeneity of published studies, with varying lengths of attempted observation, techniques of splinting and therapy, and varying surgical indications. Spontaneous resolution rates range widely from 0% (14) to over 75%. (55)
Non-operative management can range widely from strictly observation, to parental passive extension stretching, to a combination of stretching and splinting. Therapy and splinting has even been shown to resolve trigger thumb even when the patient presents in locked IP flexion. (56) Table 2 summarizes a review of the current literature (14, 15, 51, 54-59) regarding observation (24 months) of pediatric trigger thumb. As can be seen, the range of percentage of trigger thumbs that resolves ranges quite widely, from 0% in the study by Ger and colleagues (14) to 76% in the study by Baek and Lee. (55) Similarly, the average time to resolution also varied widely, from just under 2 months to over 5 years. This is likely due to no standardized indications for surgery and varied periods of time allowed for observation prior to surgical intervention. Most previous studies allowed only a 3 to 6 month period of observation before surgery was performed.
The best studies available, in terms of strict observation, were by Baek and associates (60) in 2008 and Baek and Lee, (55) who, in 2011, presented a 5-year follow-up on the same cohort. They followed 87 thumbs, defining resolution as attaining 0[degrees] of IP extension with no triggering. Seventy six percent of the thumbs resolved spontaneously, and the average time to resolution was 49 months, with half of the patients resolving within 4 years. This led them to recommend an initial prolonged period of observation given the high rate of overall resolution.
Two previous studies (27, 32) have looked specifically at stretching for pediatric trigger thumb, which is essentially a passive extension stretch performed by the parents, multiple times daily. Watanabe and coworkers (32) showed a 40% resolution rate with stretching over an average 62 months, and Jung and associates (27) showed an 80% resolution rate over an average 24 months. Both studies found a lower resolution rate in those patients presenting in locked IP flexion, leading both investigators to suggest a lower threshold for initial surgical intervention in these patients.
Another modality used in the treatment of pediatric trigger thumb has been splinting. Splinting holds the IP joint in extension and the MP joint in neutral. Splinting can be used only at night and during naps, or for 24 hours initially and then only at night and naps. Table 3 lists the four previous studies (28, 56, 58, 61) dealing primarily with splinting of pediatric trigger thumb, two of which compared the splinted group to observational controls, and one that compared splinting to stretching. Resolution rates in splinted groups have been quite high, ranging from 60% to 92%. When compared to observation alone, in both studies, splinting led to an over 30% increase in resolution rate, and in the study by Koh and colleagues, (56) it even led to a significant decrease in time to resolution, with low rates (1% to 2%) of contact dermatitis. The exact method of splinting varied between the four studies.
Surgical management for pediatric trigger thumb consists of either open release of the A1 pulley or percutaneous release. Open release is overall quite successful in restoring full thumb IP motion with little risk of neurovascular injury, infection, and persistent or recurring triggering. (12, 13, 15-17, 26) For open release, typically, a 1 cm transverse incision is made at the thumb palmar digital flexion crease. Longitudinal incisions have been associated with scar complaints long term. (62) The A1 pulley is released, and the variable annular pulley, as discussed earlier, may or may not need to be released as well. It is important to note that the thumb radial digital nerve crosses over the A1 pulley at the level of the surgical release and must be identified and protected. (12)
There have been many different studies (14, 15, 24-26, 29, 30, 52, 57, 59, 61-63) highlighting the outcomes of open surgical release. For the most part, all are retrospective Level IV evidence case series. Table 4 summarizes the outcome measures of recurrence and complication rates throughout the studies. Recurrence rate ranges from 0% to 6.5% and the incidence of superficial infections ranges between 1% to 3%. Follow-up ranges widely from not reported or under 1 month to over 15 years in one study.
A frequent theme in the treatment of pediatric trigger thumb is how long can surgery be safely delayed and the disorder observed. Dinham and Meggitt, (15) in reporting their results in 1974, stated that three of their six patients treated surgically that were over the age of 3 years had 15[degrees] residual flexion contractures long-term. This led them to recommend no observation in patients that were over the age of 3 years on presentation and against a prolonged period of observation in general.
However, many subsequent investigators (22, 29, 57, 59) have reported no residual IP flexion contractures when operating on those older than 3 years of age; with follow-up of at least 2 years. Skov and coworkers (29) found no residual flexion contractures on 23 thumbs operated after 3 years of age with average follow-up of 5.75 years. Mulpruek and Prichasuk, (59) in their case series had over one third older than age 3 years, and none had residual flexion contractures at average follow-up of 3.3 years. And Dunsmuir and Sherlock (57) reported on 61 thumbs over 3 years of age with no residual contractures at an average of 5-years follow-up. Han and associates (22) even reported on their series of 31 thumbs having surgery at an average age of 7.5 years, all with no final motion loss at average 27-month follow-up. Therefore, delaying surgery for years, if desired, is unlikely to lead to deleterious effects.
Percutaneous release of the A1 pulley has also been explored in pediatric trigger thumb, as in the treatment of adult trigger digits. Percutaneous release is relatively straightforward. By using a 19 to 20 gauge needle with the bevel parallel to the tendon, the A1 pulley is released with a longitudinal movement to slice through the pulley like a scalpel blade. (64) Retrospective studies (31, 63-66) have shown a higher recurrence rate than with open release, with one study (63) even having a recurrence rate of up to 35%. However, no neurovascular injuries have been reported or any other complications with the technique, except for two unintentional skin lacerations. (31)
Masquijo and colleagues (67) performed a prospective trial with 20 thumbs, first performing a percutaneous release and then performing an open observation of the result. They found full A1 pulley release was achieved in only 20% of the patients, with no nerve or vessel injuries. However, they found flexor tendon lacerations in 80% of the cases, all of which were superficial lacerations. The average distance between the needle and the neurovascular bundle was found to be 2.45 mm [+ or -] 0.9 mm. This led their group to stop performing percutaneous releases and recommending against the procedure. Therefore, given the high rate of recurrence found and the risk of tendon laceration, percutaneous trigger thumb release in children should be avoided.
Summary of Pediatric Trigger Thumb
Pediatric trigger thumb is manifested by persistent flexion of the thumb IP joint and usually presents around the age of 2 years. It has an equal incidence in males and females and is bilateral around 25% of the time. Triggering is less common as in adults, with locked IP flexion being more common in the child. Although the etiology is still questionable, it is not inflammatory as in adults, and it is unlikely congenital given prospective studies in newborns. Spontaneous resolution has been seen to be as high as 76% without treatment. The evidence shows that observing for months and even years has not proven to be detrimental, and it can be expected to resolve in an average of 4 years. Splinting has been shown to increase the resolution rates and time over observation alone. Open release has a low recurrence rate with minimal complications. Percutaneous release is associated with a higher recurrence rate and is not recommended in the pediatric population.
Congenital Clasped Thumb
Clasped thumb is a congenital deformity of the thumb in which the thumb is held in a flexed and adducted position in the palm. (68, 69) While it is always present at birth, it is often not noticed until lack of extension is appreciated by the parents. (17, 18, 68) The deformity can occur in isolation or as part of a syndrome, most commonly with arthrogryposis. (17) The pathology is essentially an imbalance between the thumb flexors and extensors. It is more common in males and is frequently bilateral. (17, 70)
On physical examination, varying degrees of thumb adduction contracture is seen, ranging from minimal to severe. (70) There is a flexion posture at the metacarpophalangeal joint with occasional flexion posturing at the IP joint, and the patient lacks MP joint extension. (18, 68) Mild deformities can be passively extended, while severe deformities may not. With more complex deformities, a varying decrease in thenar muscle mass and first webspace contracture can be appreciated. (70)
Anatomy and Classification
In contrast to pediatric trigger thumb, congenital clasped thumb manifests as flexion at the thumb MP joint, but depending on involvement of the extensor pollicis longus tendon, flexion at the IP joint may be present. (17) An absent EPB allows flexion instability at the MP joint, and an absent EPL allows flexion instability at the IP joint. A deficient APL allows the thumb to be held tightly in adduction into the palm. In a majority of cases, the EPB is found to be severely hypoplastic, threadlike, or absent; however, abnormalities of both the EPL and APB in addition to the EPB have been reported in the literature. (17, 71-73) More severe deformities include MP joint contractures, ulnar collateral ligament laxity, superficial thenar muscle absence or hypoplasia, and inadequate webspace skin available for reconstruction. (17, 18, 68)
Weckesser and coworkers (69) initially classified congenital clasped thumb into four groups. Group I consisted of patients with weak or absent extensor tendons. Group II had weak or absent extensor tendons with the addition of flexion contracture. Group III were more complex deficiencies with joint abnormalities and thenar hypoplasia. Group IV consisted of those not fitting into groups I to III. This classification, however, has proved cumbersome and not helpful clinically. (18) McCarroll (18) proposed a simpler classification system consisting of two groups: type 1 being supple with only absence or hypoplasia of the EPB or EPL tendons and type 2 being complex with the addition of varying MP joint contracture, thenar muscle hypoplasia, and first webspace skin deficiency. Mih (68) added another type to McCarroll's classification, being those associated a congenital syndrome, arthrogryposis, or windblown hand syndrome.
The more complex congenital clasped thumb is often present as a component of various different congenital syndromes, and recognition of these disorders is important in planning treatment. Clasped thumb can be found in the following: distal arthrogryposis, (74, 75) wind-blown hand syndrome, (76, 77) Freeman Sheldon syndrome, (78) Hecht syndrome (congenital contractural arachnodactyly), (70) MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), (79, 80) congenital hydrocephalus, (81) and congenital muscular dystrophy. (82)
Distal arthrogryposis is a group of syndromes characterized by congenital contractures of the hands and feet. (16, 75) It is thought to be due to fetal akinesia, i.e., decreased fetal movements in utero with type 1 being the most common. (75) The fingers are flexed, and the thumb is adducted tightly, and there can be varying degrees of shoulder, elbow, and wrist contractures. It is often associated with clubfoot, congenital vertical talus, and hip dysplasia. (75)
Freeman-Sheldon syndrome is essentially a severe form of distal arthrogryposis, specifically distal arthrogryposis type 2A. (75) It is also referred to as whistling face syndrome due to its characteristic facial features with a small mouth and pursed lips due to facial muscle contractures. (78) Patients also have feeding difficulties, and it is associated with camptodactyly, clubfoot, and scoliosis. (78) It is also important to note that they are prone to malignant hyperthermia. (78)
Wind-blown hand syndrome is a severe congenital clasped thumb with the addition of congenital ulnar deviation of the fingers at the MP joints. (76, 77) The thumb is tightly adducted with tight and severely deficient first webspace skin.
In addition to reporting surgical results for treatment of congenital clasped thumb, Ghani and associates (70) examined thoroughly their patient's clinical characteristics and associated conditions. They found that almost 60% of the patients had a history of consanguinity, and 33% of the patients had a parent or sibling with a congenital clasped thumb. Also, 78% of the patients had an associated lower limb anomaly, and 50% were associated with a genetic or congenital syndrome.
Approach to Treatment
In order to adequately treat the patient with congenital clasped thumb, it is important to realize the two basic types of patients that might present with the disorder. The first is the patient with the supple clasped thumb, whose deformity is passively correctable, and would benefit from initial splinting therapy and stretching, with eventual extensor mechanism reconstruction if this is unsuccessful. (68) The other type of patient is the patient with a more complex deformity, likely associated with a congenital syndrome. For this patient, in addition to preoperative splinting, they will require operative intervention with thumb extensor reconstructions and varying degrees of MP joint contracture releases, first webspace deepening and soft tissue reconstructions, and opposition transfers. (68) The main goal of treatment is to restore the patient's ability to bring the thumb away from the palm for grasping function, and it is important to consider that a mild deformity or extensor lag that does not interfere with hand function does not warrant surgical correction in all cases. (17-68, 76, 83)
It is important to begin splinting early, as the majority of supple clasped thumbs will improve or resolve with splinting. (68) The type of splint used is an opponens splint that holds the thumb in abduction at the carpometacarpal joint and extension at the IP and MP joints. (84) The goal of splinting is to allow the deficient extensor mechanism to develop and strengthen. (68, 83, 84) Often splinting is used as an adjunct to soften and alleviate the first webspace skin contracture in complex clasped thumbs.
Lin and colleagues (85) described their simple method of splinting for supple type congenital clasped thumbs. The patients were required to wear the splint for 3 to 6 months, 24 hours a day, and then for 1 to 3 months only at night. They achieved 88% excellent results, with full active motion at the MP and IP joints and 12% good results with only slight limitation in motion. Miura (86) also reported his results of splinting 96 thumbs, with 70% achieving good results if the splinting was started by 12 months of age, only 21% if the splinting was started between 1 and 2 years old, and no good results if it was started older than 2 years. This high-lights again the importance of beginning splinting early in the pediatric patient.
For the more complex clasped thumb deformities, those presenting after age 2 and for those which failed an initial trial of splining having a detailed understanding of the deficiencies and developing an operative plan is important. An organized and comprehensive surgical algorithm was presented in detail by Mih. (68) To restore thumb extensor function, tendon transfers using the extensor indicis proprius (EIP), flexor digitorum superficialis (FDS), brachioradialis, or extensor carpi radialis longus (ECRL) can be used. The EIP is ideal but can often be absent in the patient with congenital clasped thumb. Therefore, the FDS to the long finger is a good alternative. (68) Brachioradialis or ECRL lack enough excursion and need tendon grafting in addition to the transfer if used. (17)
Contracture of the thumb MP joint also needs to be addressed. In the complex clasped thumb, the flexor pollicis longus and the MP joint will be contracted, and the ulnar collateral ligament will be attenuated. (68) The volar plate needs to be released, and the FPL can be lengthened, proximal to the wrist, at the musculotendinous junction to avoid creating adhesions distally. The ulnar collateral ligament of the MP joint then needs to be imbricated, and to protect the imbrication and any thumb extensor tendon transfer, the thumb MP is usually pinned in extension. (68)
Due to the deficiency in opposition from thenar muscle hypoplasia in the complex clasped thumb, an opposition transfer is often required. Commonly described opposition transfers for clasped thumb are using the flexor digitorum superficialis (87) to the ring finger or the abductor digiti minimi, (88) also known as the Huber opponensplasty. Any CMC joint contractures need to be released if present as well. (68)
Lastly, to correct the first webspace contracture, the adductor pollicis and often the first dorsal interosseous need to be released from their origins. (68) Commonly, a Z-plasty is all that is needed to deepen the first webspace skin. However, a dorsal index rotational flap might be necessary to restore an appropriate amount of first webspace skin, of which there have been multiple techniques (89, 91) described.
Review of the literature on the treatment of congenital clasped thumb consists of mostly of Level IV evidence retrospective case series, with varying methods of classification, splinting, type and timing of surgical interventions, and results reporting. No studies include validated outcome measures. Table 5 lists the most pertinent studies (69, 70, 76, 77, 84, 85, 92) in the literature. Overall the success rate is high with splinting, with almost 80% excellent and good results throughout. Overall, the outcomes with surgical treatment vary widely with the degree of underlying deformities treated.
Tsuyuguchi and associates (84) presented the largest series of cases on the treatment of congenital clasped thumb in the literature. They splinted or performed a wide array of surgical procedures as discussed herein but importantly defined a set of useful surgical indications. Indications for surgery in the study were as follows: limitation of active MP joint extension more than 30[degrees], active CMC abduction less than 30[degrees], those not responding to splinting for at least 6 months, and any older patients presenting with a complex clasped thumb. They had 100% excellent results in splinting for cases with supple deformities, and 75% excellent and good results for surgical cases.
McCarrol and Manske (76) reviewed their experience with the treatment of complex clasped thumb deformities, detailing their early failures. They presented 18 patients with severe wind-blown hand syndrome and compared their initial early procedures to later procedures. The first six patients in their series were treated with limited soft tissue releases and extensor tendon transfers, and all patients did remarkably poor. The later 12 patients were treated, taking into account a better understanding of the pathology involved and had more extensive first webspace contracture releases, opponens transfers, and rotational flaps; and the patients had a 91% success rate. This study stressed the importance of correcting all parts of the deformity for optimal functioning postoperatively.
Summary of Congenital Clasped Thumb
Congenital clasped thumb presents at birth but is often unnoticed until 3 to 4 months of age. It is manifested by persistent flexion at the MP joint, in contrast to trigger thumb, which is at the IP joint. Complex deformities also have an adduction contracture and varying degrees of first webspace contractures. It is more common in males and is frequently bilateral. Clasped thumb can present in isolation or in conjunction with many different congenital syndromes. Supple deformities usually resolve with splinting and might need extensor tendon transfers if they do not. Complex deformities require restoration of thumb extension, thumb opposition, and correction of any first webspace contractures. Although lower quality case series exist, there are no high quality clinical studies to guide treatment.
Mark Shreve, M.D., and Alice Chu, M.D.
Mark Shreve, M.D., and Alice Chu, M.D., Department of Orthopaedic Surgery, NYU Hospital for Joint Diseases, New York, New York.
Correspondence: Mark Shreve, M.D., Department of Orthopaedic Surgery, NYU Hospital for Joint Diseases, 301 East 17th Street, New York, New York 10003; firstname.lastname@example.org.
None of the authors have a financial or proprietary interest in the subject matter or materials discussed, including, but not limited to, employment, consultancies, stock ownership, honoraria, and paid expert testimony.
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Table 1 Percentage of Patients Presenting in Locked IP Flexion Study Number of Locked IP Patients Flexion Han, et al (22) 31 70% Herdem, et al (23) 47 85% Kuo and Rayan (24) 28 93% Leung, et al (25) 209 82% Marek, et al (26) 217 94% Jung, et al (27) 35 11% Nemoto, et al (28) 54 69% Skov, et al (29) 47 83% Slakey and Hennrikus (30) 17 100% Svencan, et al (31) 31 90% Watanabe, et al (32) 60 63% Fahey and Bollinger (33) 15 73% Table 2 Resolution Rates and Time to Resolution for Various Studies Study Therapy Number of Patients (Number of Thumbs) Baek and Lee (55) Observation 67 (87) Verma, et al (54) Observation 20 (26) Koh, et al (56) Observation vs. 64 (87) Splinting Lee, et al (58) Observation vs. 50 (62) Splinting Dinham and Meggitt (15) Observation, then 105 (131) surgery Dunsmuir and Sherlock (57) Observation, then 53 (57) surgery Ger, et al (14) Observation, then 41 (53) surgery Moon, et al (51) Observation, then 33 (35) surgery Mulpruek and Prichasuk (59) Observation, then 42 (54) surgery Study % Resolution Time to Resolution Baek and Lee (55) 76% 49 mo [+ or -] 7.9 mo Verma, et al (54) 38% 18 mo (5-26 mo) Koh, et al (56) 61% obs 59 mo [+ or -] 46 mo obs 92% splint 22 mo [+ or -] 16 mo splint Lee, et al (58) 23% obs 22.1mo (3-60 mo) obs 71% splint 18.1mo (3-57 mo) splint Dinham and Meggitt (15) 21% < 12 mo Dunsmuir and Sherlock (57) 49% 7 mo (1-23 mo) Ger, et al (14) 0% 44 mo (9-139 mo) Moon, et al (51) 34% 5 mo (1-24 mo) Mulpruek and Prichasuk (59) 19% 7 wk (3-12 wk) Table 3 Studies Involving Splinting for Pediatric Trigger Thumb Study Therapy Number of Patients (Number of Thumbs) Nemoto, et al (28) Splinting 30 (40) Tan, et al (61) Stretching vs. Splinting 56 (68) Lee, et al (58) Observation vs. Splinting 50 (62) Koh, et al (56 Observation vs. Splinting 64 (87) Study % Resolution Time to Resolution Nemoto, et al (28) 60% 10 mo (1-30 mo) Tan, et al (61) 52% stretching 6 mo (3-9 mo) 77% splint Lee, et al (58) 23% obs 22.1 mo (3-60 mo) obs 71% splint 18.1 mo (3-57 mo) splint Koh, et al (56) 61% obs 59 mo [+ or -] 46 mo obs 92% splint 22 mo [+ or -] 16 mo splint Table 4 Summary of Results of Open Surgical Release (NR = not reported) Study Number of Recurrence thumbs Dinham and Meggitt (15) 105 2.9% Dunsmuir and Sherlock (57) 200 4% Ger, et al (14) 53 0% Kuo and Rayan (24) 28 0% Leung, et al (25) 209 4% Marek, et al (26) 217 0% McAdams, et al (62) 30 0% Mulpruek and Prichasuk (59) 32 0% Ramirez-Barragan, et al (63) 92 6.5% Skov, et al (29) 47 0% Slakey and Hennrikus (30) 17 0% Tan, et al (61) 72 1.4% Ashford, et al (52) 76 2.6% Study Complications Follow-up Dinham and Meggitt (15) 1 inadequate release NR 1 superficial infection (1%) Dunsmuir and Sherlock (57) 3 superficial infections 58 mo (1.5%) (13-115 mo) Ger, et al (14) NR 1 yr Kuo and Rayan (24) NR 79 mo (3-228 mo) Leung, et al (25) 3 hypertrophic scar 5 mo (3-29 mo) Marek, et al (26) 4 superficial infections 27 days (1.8%) (2-840 days) McAdams, et al (62) 7 longitudinal scar 181 mo complaints (2-40 yr) Mulpruek and Prichasuk (59) none 40 mo (8-65 mo) Ramirez-Barragan, et al (63) 2 superficial infections 24 mo (2.2%) (4-60 mo) Skov, et al (29) 10 bowstringing 69 mo (insignificant) (18-130 mo) Slakey and Hennrikus (30) none 12 mo (6-35 mo) Tan, et al (61) 2 superficial infections NR (2.8%) Ashford, et al (52) none NR Table 5 Summary of Studies on Treatment of Congenital Clasped Thumb (NR = not reported) Study Number % Bilateral of Male Patients Weckesser, et al (69) 17 76% 82% Tsuyuguchi, et al (84) 43 56% 74% Lipskeir and Weizenbluth (92) 12 NR 58% Wood and Biondi (77) 11 82% NR McCarrol and Manske (76) 18 50% 100% Ghani, et al (70) 40 73% 83% Lin, et al (85) 11 73% 55% Study Types Intervention Weckesser, et al (69) 11 group I cast, surgery, 6 group II-IV none Tsuyuguchi, et al (84) 14 type 1 splint, 14 type 2 surgery, none 15 type 3 Lipskeir and Weizenbluth (92) 4 group I surgery 6 group II 2 group III Wood and Biondi (77) complex surgery (windblown hand) McCarrol and Manske (76) complex surgery (windblown hand) Ghani, et al (70) 8 type 1 splint, 8 type 2 surgery, none 12 type 3 Lin, et al (85) supple splint Study Result Weckesser, et al (69) 56% excellent & good 26% fair, 18% poor Tsuyuguchi, et al (84) splint: 79% excellent & good, 19% fair, 2% poor surgery: 75% excellent & good, good, 19% fair, 6% poor Lipskeir and Weizenbluth (92) 89% excellent & good, 11% fair fair Wood and Biondi (77) 2 good, 2 fair McCarrol and Manske (76) Early cases: 18% improved Later cases" 01% improved Ghani, et al (70) splint: 80% success surgery: 38% excellent, 54% good, 8% fair Lin, et al (85) 88% excellent, 12% good
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|Author:||Shreve, Mark; Chu, Alice|
|Publication:||Bulletin of the NYU Hospital for Joint Diseases|
|Date:||Jan 1, 2016|
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