Palmar Dermatoglyphics in Congenital Hand Anomalies Kentaro Watanabe, MD, Ryogo Nakamura, MD, Takayuki Miura, MD, Tajimi, Japan A palmar
dermatoglyphic
performed
to evaluate
the number
incidence
of hypothenar
patterns,
variations, from
which
the normal
study of 392 hands of patients the pattern
are rare in normal range
hands,
triradii, intensity, were
in cases of ectrodactyly
range in cases of polydactyly. was characteristic
of digital
The dermatoglyphics
and discriminative.
function
of the hand,
and in estimating
(J Hand
Surg 1994;19A:961-967.)
with
frequently
Dermatoglyphics
From the Department of Orthopaedic Surgery, Gifu Prefectural Tajimi Hospital, Branch Hospital of Nagoya University, School of Medicine and The School of Physical Education, Chukyo University, Tajimi, Japan. Received for publication Oct. 15. 1993: accepted in revised form May 3, 1994. No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. Reprint requests: Kentaro Watanabe, MD, Department of Orthopaedic Surgery, Gifu Prefectural Tajimi Hospital, 5-161 Maehata-cho. Tajimi, Gifu 507. Japan.
line index.
observed.
and syndactyly, associated
hand anomalies
of an axial
and the main
was
triradius,
the
Remarkable
The results deviated
but were
within
the normal
with each type of hand anomaly
was also helpful
the time of the damage
Dermatoglyphics is a pattern of epidermal ridges, on the palmar side of a hand or the plantar side of a foot, observed in most primates and in some other mammals including rodents and marsupials. Epiderma1 ridges allow perspiration through many pores associated with sweat glands and provide a “skidproof effect,” facilitating tree climbing and branch grasping.‘,* Such behavior is common to these animals. The tactility of these mammals’ palms and soles is also very sensitive. An assortment of loops and triradii characterizes dermatoglyphics. A triradius is the center of three adjacent areas of ridges, and each triradius is accompanied by one loop. Loops and whorls are regarded as true patterns, while an arch is termed an open field because of an absence of an associated triradius’ (Fig. 1). Between the sixth and tenth week in embryogenesis, pads appear on the fingers and palm
congenital
the position
in evaluating
the
to the hand in embryogenesis
and then disappear after participating in the formation of dermatoglyphics.‘,4 Mulvihill’s’ and Penrose’@ hypotheses have addressed the process of dermatoglyphic development, however, this process remains unclear. Since the latter part of the 17th century, the characteristic configuration of dermatoglyphics has received attention. The first report about the relationship between dermatoglyphics and disease was presented by Cummins regarding dermatoglyphics in patients with Down syndrome. Since 1959, studies have focused on the relationship between chromosome aberrations and dermatoglyphics. These studies have revealed that the formation of dermatoglyphics is polygenic and influenced by exogenous factors.’ However, specific disease discrimination has not occurred, except in the cases of some chromosomal diseases such as Down syndrome. Although Mulvihill’ has described dermatoglyphics of patients with a few congenital hand anomalies, there have been few reports 8.9 of systematic studies. In this study, we made a systematic analysis of palmar dermatoglyphics (also referred to as palm prints) of patients with congenital hand anomalies and evaluated their significance. Materials
and Methods
We used a pencil lead method to extract dermatoglyphics. The palmar side of an affected hand, including the proximal crease of the wrist, was rubbed The Journal
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5
4
Figure 1. Palmar dermatoglyphics of a normal hand. Ridge patterns of thumb and index finger, middle and ring fingers, and little finger show a loop with one triradius, a whorl with two triradii, and an arch without a triradius, respectively. Letters a-d and t show digital triradii and an axial triradius, respectively. The length (1) demonstrates the position of an axial triradius and is expressed as the percentage of the axis length (L). Letters A-D and T show the main lines. Numbers represent the margin of the palm. Letter H shows a hypothenar pattern with one triradius. The number of digital triradii, the position of an axial triradius, and the pattern intensity of the palm is four, 13%, and six, respectively. The main line index is (A)3 + (D)7 = 10.
drawing paper coated with the lead of a 4B pencil. A copy of the palm’s dermatoglyphics was then obtained by applying semitransparent adhesive film to the hand. This method is convenient and acceptable for use on the hands of infants. A quantitative analysis of dermatoglyphics was undertaken in accordance with The Memorandum on Dermatoglyphic Nomenclature described by Penrose.3 Five items of palmar dermatoglyphics were analyzed, including (1) the number of digital triradii; (2) the position of an axial triradius; (3) the incidence of hypothenar patterns; (4) the pattern intensity; and (5) the main line index. There are four with
digital triradii in a normal hand at the base of four digits. The radiant of each triradius toward the center of the palm is named the main line. An axial triradius is situated in the proximal region of the palm and approximately superficial to the carpal bones. The position of an axial triradius was determined according to its location in relation to the length of the palm. A measurement was made of the axis length, that is, the distance between the most distal wrist crease and the most proximal crease on a ring finger (or a middle finger when a ring finger was absent). The distance between the axial triradius and the most distal wrist crease was then measured and expressed as a percentage of the axis length (Fig. 1). An investigation by Matsui2 on bilateral hands of 1026 normal Japanese children indicated that this percentage is usually less than 30%, with an average of 20%. The pattern intensity is the total number of triradii on the palm, including digital triradii, axial triradii, and triradii on the interdigital and hypothenar areas. It exceeds the number of loops by four and is closely correlated with the number of fingers.” The margin of the palm is represented by numbers, and the main line index is the sum of the two numbers corresponding to the exits of the main line A and D (Fig. 1). It shows a general direction of palmar epidermal ridges. This ridge direction becomes horizontal as it enlarges and vertical as it diminishes. In this study an analysis of ridge patterns of the fingertips (also referred to as fingerprints) was per-
Table 1. Details of 392 Hands of Patients With Congenital Hand Anomalies No. of Hands
Type Category I Transverse deficiencies Radial ray deficiencies Ulnar ray deficiencies Cleft hand Category II Syndactyly Camptodactyly Clinodactyly Radioulnar synostosis Category III Preaxial polydactyly Postaxial polydactyly Category IV Macrodactyly Category V Brachysyndactyly Category VI Congenital constriction syndrome Others
21 47 12 35 28 9 8 5 135 10 5 25 band
44 8
The Journal of Hand Surgery / Vol. 19A No. 6 November
Table 2. Results of a Quantitative No. of Digital Triradii
Type
Transverse deficiencies Radial ray deficiencies Ulnar ray deficiencies Cleft hand Syndactyly Camptodactyly Clinodactyly Radioulnar synostosis Preaxial polydactyly Postaxial polydactyly Macrodactyly Brachysyndactyly Congenital constriction band syndrome
Analysis of Five Items in Congenital Incidence of Hypothenar Patterns (%)
Position of an Axial Triradius @)
222 421 la1 2+- 1 2+-l 421 421 4k5 420 4+1 4kO 2?1 321
37k18 39 t 12 42 2 22 15 ? 5 23 2 12 24 ? 15 25 k 19 31 It_ 20 19 2 7 25 2 13 19 r 5 41 +- 17 22 -c 13
-
43 21 67 11 11 44 38 40 20 0 0 44 16
1994
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Hand Anomalies Pattern Intensity* 3.7 2 1.8
4.7 1.8 3.5 3.1 5.2 4.8 4.8 5.2 4.8 5.0 3.3 4.3
? 5 2 +4 t 4 4 + 5 z ?I
1.0 2.2 1.0 0.8 0.8 1.2 0.4 0.5 0.8 0.0 1.3 1.0
Main Line
Index? -___ 6.9 2 6.2 9.3 k 3.8 1.7 ? 2.9 8.3 r 4.4 7.2 k 5.5 11.6 r 1.4 12.5 r 2.2 12.6 5 1.7 13.2 k 2.0 10.5 + 3.7 12.0 k 1.4 7.5 k 5.9 10.4 5 3.5
Data are presented as the mean 2 SD. * Total number of all types of triradii; + Sum of the two numbers corresponding to the exits of the main lines A and D. formed in a few patients with different types of hand anomalies, because it was very difficult to decipher the ridge patterns of all of the digits. Palmar dermatoglyphics of 392 hands of patients with congenital hand anomalies diagnosed on the basis of clinical and radiologic information at Nagoya University Branch Hospital were copied, after informed consent had been obtained from each patient or the patient’s parents, and anaiyzed. The International Federation of Societies for Surgery of the Hand classification system” was used for classification purposes (Table 1). In this study, the malformations of triphalangeal thumb and congenital syn-
A
ostosis between the fourth and were considered separately from of preaxial polydactyly and ulnar spectively, in order to clarify the teristics expressed by each type
fifth metacarpals the malformations ray deficiency, reindividual characof malformation.
Results Digital Triradii The total numbers of digital triradii were decreased in cases of ectrodactyly and syndactyly (Table 2). In cases of both syndactyly and brachysyndactyly, the digital triradii of the webbed digits
B
Figure 2. (A) Dermatoglyphics of a hand representing syndactyly. Although fingerprints of the ulnar three digits are observed, their digital triradii are absent. (B) Dermatoglyphics of a hand representing brachysyndactyly. The digital triradii of the webbed digits are fused. The position of an axial triradius is distal and a hypothenar pattern is present.
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Figure 3. (A) Dermatoglyphics normal. The fingerprint of the polydactyly. The digital triradii triradius is slightly distal and a
of a hand representing preaxial polydactyly. Most of the epidermal ridge patterns are radial thumb is an open field. (B) Dermatoglyphics of a hand representing postaxial of both the little finger and the ulnar extra digit are absent. The position of an axial hypothenar pattern is observed.
were either absent or fused at the base of the interdigital spaces (Fig. 2). The existence of digital triradii of the extra digits in patients with preaxial polydactyly or postaxial polydactyly was rare (Fig. 3). In the patients with cleft hands, when the main
line of the digital triradius on the ring tinger was shifted toward the cleft space, a loop or a whorl was observed on the ulnar side of the cleft space suggestive of the fingerprint of the absent middle finger (Fig. 4). Axial
Triradii
The absence of an axial triradius was observed in 19% of the transverse deficiency cases, 35% of the radial ray deficiency cases, and 50% of the ulnar ray deficiency cases (Figs. 5-7). Axial triradii confirmed in these cases were displaced distally. In the radial ray deficiency cases, the position of an axial triradius was affected by the severity of thumb hypoplasia. Axial triradii were absent in all patients with aplasia of the thumb (Fig. 6). The T-line, the main line of an axial triradius, is usually shifted toward the first interdigital space in normal hands. In this study, it was shifted toward the second interdigital space in 23% of the transverse deficiency cases, 50% of the radial ray deficiency cases, 17% of the cases of brachysyndactyly, and 27% of the cases of constriction band syndrome. In 89% of the cases with cleft hands, the T-line was shifted toward the cleft space (Fig. 4). Hypothenar
Figure 4. Dermatoglyphics of a patient with a cleft hand. The position of an axial triradius is proximal, but the Tline is shifted toward the cleft space. Note the whorl at the ulnar side of the cleft space.
Patterns
The hypothenar pattern was often observed in some types of anomalies, and its incidence was very high, especially in patients with ulnar ray deficiency (Table 2). Additionally, the incidence of the thenar pattern was 50% in patients with aplasia of the thumb.
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Figure 5. Dermatoglyphics of hands representing the transverse deficiencies. On the left is a rudimentary digit type and on the right is an atypical cleft hand. An axial triradius is either absent or distally displaced. Note that there are fingerprints on the tips of the digits. Pattern Intensity
and Main Line Index
The main line index was correlated with the pattern intensity. In patients with ectrodactyly and syndactyly, both of these parameters were decreased. Fingerprints
A few interesting findings were associated with fingerprints found in patients with some types of
hand anomalies. Fingerprints on the tips of rudimentary digits were observed in patients with transverse deficiencies (Fig. 5). Alternatively, there were only traces of epidermal ridge patterns on the tips of the amputated fingers in patients with constriction band syndrome (Fig. 8). In patients with preaxial polydactyly, fingerprints of most duplicated radial thumbs revealed an arch. In patients with macrodactyly, the widths of both the epidermal ridges and the in-
Figure 6. Dermatoglyphics of hands representing the radial ray deficiencies. On the left is an example of hypoplasia of the thumb and on the right is an example of aplasia of the thumb. An axial triradius is displaced distally in the hypopiastic thumb, but is absent in the aplastic thumb.
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Figure 7. Dermatoglyphics of a hand representing the ulnar ray deficiencies. An axial triradius is displaced distally. Hypothenar and thenar patterns are observed.
terridge spaces of a hypertrophic finger were enlarged; however, the finger ridge count did not increase.
Discussion There are few remarkable variations in dermatoglyphics in normal hands. The absence of the digital triradius on the index, middle, or little linger is an abnormal variation. The distal displacement of an axial triradius is an occasional variation that has been described by Matsui.* These variations, however, are observed commonly in patients with congenital hand anomalies. Therefore, it is clear that there is a close correlation between a dermatoglyphic abnormality and a type of malformation of the hand. Factors including location, extent, time, and degree of damage to the hand during embryogenesis determine what type of hand anomaly develops. It has been suggested that dermatoglyphics is also influenced by these factors. There are three approaches to interpreting dermatoglyphics in patients with congenital hand anomalies from this point of view. First, dermatoglyphics facilitates discrimination of various hand anomalies. Although whether there
Figure 8. Dermatoglyphics of a patient with constriction band syndrome. All of the digital triradii exist and the position of an axial triradius is relatively proximal. There are traces of the epidermal ridge patterns on the tips of the amputated digits instead of the fingerprints.
is a correlation between transverse deficiencies and the constriction band syndrome, or the typical cleft hand and the atypical cleft hand, etc., is disputed, these syndromes now are distinguishable by analysis of their dermatoglyphics. In cases with transverse deficiencies, dermatoglyphics reveals the position of an axial triradius as distal. This differs from its position within the normal range in most cases of constriction band syndrome. Additionally, in the former, there are fingerprints on the tips of rudimentary digits, while there are traces of epidermal ridges without fingerprints on the tips of the amputated fingers in the latter. In cases of atypical cleft hand, the axial triradius is often displaced distally and absences of digital triradii are frequently observed. However, in cases of typical cleft hand, the position of the axial triradius is very proximal and digital triradii are observed unless associated with deficient digits. Dermatoglyphics also provides an opportunity to evaluate the function of an affected hand. The epi-
The journal
dermal ridge patterns of the palm participate in the function of grasping, since an effective “skidproof pattern” is provided when the main line index is large and the position of an axial triradius is proximal. Dermatoglyphic patterns in patients with transverse or radial/ulnar ray deficiencies, where the main line index is small and the position of an axial triradius is distal, suggest poor grasping function. In contrast, patients with preaxial polydactyly or macrodactyly, with a large main line index and a proximally located axial triradius, have good grasping function. Alternatively, patients with syndactyly or cleft hand have a small main line index and a proximally located axial triradius. Disturbance of these hands’ function is considered moderate. Dermatoglyphics is also helpful in estimating the time of the damage to the hand that occurred in embryogenesis and that is responsible for a hand anomaly. For example, absences of triradii indicate that the time of the damage was before the appearance of the pads and that the degree of the damage was severe. Remarkable variations such as very distally displaced axial triradii suggest that the degree of the damage was not severe, or that the time of the damage was relatively late (until the completion of pad formation). According to this hypothesis, the time of the damage is relatively early in the embryogenesis for the following types of hand anomalies: transverse and ray deficiencies, syndactyly, and brachysyndactyly. In cases of macrodactyly, although the widths of both the epidermal ridges and the interridge spaces are enlarged, the pattern, number, and position of the triradii are normal. It indicates that the time of the damage was after the completion of the dermatoglyphics. In cases of constriction band syndrome, the position of an axial triradius is within the normal range. Also, traces of epidermal ridges are observed on the tips of the amputated fingers. This suggests that the time of the damage was after the completion of the epidermal ridges. Kino” concluded that hemorrhages and necrosis in mesenchymal tissues induced by exogenous agents after the condensation of the digital rays causes the constriction band syndrome. He based this opinion on an experimental study by amniocentesis in rat fetuses. Inoue13 also suggested that the time of the damage in radial and ulnar ray deficiencies is before the 6th week in embryogenesis based on an arterial
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patterns analysis. Our presumptions are consistent with the conclusions of these experimental and clinical studies regarding the time of the damage. An analysis of dermatoglyphics is useful for discrimination of hand anomaly types, an evaluation of the hand’s function, and an estimate of the time in embryogenesis that the damage to an affected hand occurred. Dermatoglyphics is influenced by a number of factors, including individuality, heredity, and race, in both normal and abnormal hands. While it is necessary to recognize that there are limitations to any conclusion based solely on information from dermatoglyphics, the experimental dermatoglyphics that have recently been developedI may be helpful in reducing these limitations in the future.
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1. Cummins
2. Matsui I. Dermatoglyphics and congenital abnormalities. (in Japanese) Shoni lgaku 1978;11:814-68. on dermatoglyphic no3. Penrose LS. Memorandum menclature. Birth Defects Original Article Series t968;4:1-13. 4. Okajima M. Development of dermal ridges in the fetus. J Med Genet 1975;12:243-50. 5. Mulvihill JJ, Smith DW. The genesis of dermatoglyphics. J Pediatr 1969:75:579-89. Penrose LS, Ohara PT. The development of the epidermal ridges. J Med Genet 1973;10:201-8. Holt SB. The genetics of dermal ridges. Springfield, IL: Charles C Thomas, 1968:93-109. Suzuki T. Dermatoglyphic studies on the congenital hand anomalies. (in Japanese with English abstract) Nippon Seikeigekagakkai Zasshi 1979:53: 139-53. 9. Kanie J. Dermatoglyphics in congenital hand anomalies. (in Japanese with English abstract) J Jpn Sot Surg Hand 1987;3:971-86. 10. Penrose LS. Dermatoglyphic topology. Nature 1965: 205~544-6. 11. Swanson AB, Swanson GG, Tada K. A classification for congenital limb malformation. J Hand Surg 1983: 8:693-702. 12. Kino Y. Clinical and experimental studies of the congenital constriction band syndrome, with an emphasis on its etiology. J Bone Joint Surg 1975:57A:636-43. 13. Inoue G, Miura T. Arteriographic findings in radial andulnardeficiencies. JHandSurg 1991:16B:409-12. 14. Okajima M. Asai Y. Anatomical and microscopic study of the volar dermatoglyphics of the rat (Rattus norvegicus). Am J Phys Anthropol 1985:67:81-8.