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Abnormal dermatoglyphics in arthrogryposis multiplex congenita
A b n o r m a l Dermatoglyphies in A rthrogryposis Multiplex Congenita Pamela A. Casey and Errol Get"
A B N O R M A L DERMATOGLYPHICS IN ARTHROGRYPOSIS MULTIPLEX CONGENITA P A M E L A A. CASEY and E R R O L GER, Wilmington, Delaware SUMMARY
Dermatoglyphic abnormalities have been found in patients with arthrogryposis multiple congenita. These unusual fealures, which appear to be pathognomonic, indicale an early prenatal palhogenesis and may aid in differential diagnosis. INTRODUCTION Dermatoglyphics, the configurations of the ridged skin of the fingers, palms, toes and soles (Fig. 1), are of considerable value in the diagnosis and delineation of many congenital defects. Formed early in gestation, the dermal patterns are a reflection of the combined genetic and environmental influences on the developing foetus. Down's syndrome was the first disorder to be associated with unusual dermatoglyphic features (Cummins, 1936 & 1939). This discovery occurred more than twenty years before the establishment of the chromosomal basis of Down's syndrome. Prior to this, extensive studies on normal and malformed hands by Cummins and others had led to the hypothesis that the dermal ridges form transversely to the planes of growth stress in the foetal hand and conform to the shape of the developing hand (Cummins, 1926). These early researchers were aware that errors in the development of the hand could result in anomalous dermatoglyphic configurations. In more recent times, dermatoglyphics have attracted increasing attention with respect to malformation syndromes, especially those of chromosomal origin. EMBRYOLOGY
The relationship between congenital defects and abnormal dermatoglyphics is best understood from a developmental viewpoint. The dermal ridges form from the elevations of mesenchymal tissue known as the volar pads, which are equivalent to the walking pads of animals. The emergence of these pads and the later ridge patterns are primarily determined by a multiple gene system, but intrinsic or environmental disturbances in development may significantly alter the genetic effects (Mulvihill, 1969). Insults to the foetus during the critical period of organogenesis and concurrent ridge formation produce varying dermatoglyphic changes, depending upon the timing of the interference. The chronology of dermal pattern development is summarized in Table 1. The flexion creases of the fingers and palms were not included in the original definition of dermatoglyphics. Early researchers believed that crease formation was a result of motion of the foetal hand, and that abnormal patterns of movement led to abnormal crease types. This hypothesis was contradicted by Wurth (1937), who observed crease formation prior to eight weeks gestation, before the hand is capable of coordinated movement. The creases apparently form concurrently with the process of volar pad and ridge development, and the term " d e r m a t o g l y p h i c s " is now understood to encompass the flexion creases as well as the ridge patterns (Walker, 1965). Pamela A. Casey, B.A. Clinical Research Department, Alfred I. duPont Institute, p . o . Wilmington, Delaware 19899, U.S.A. 34
The Hand-Vol. II
Box 269,
No. 1
1979
Abnormal Dermatoglyphics in Arthrogryposis Multiplex Congenita Pamela A. Casey and Errol Ger
Main
Fig. 1. Schematic normal handprint, showing digital pattern types, palmar triradii (a, b, c, d and t) and their main lines, and palmar creases.
TABLE 1 TIMETABLE OF DERMAL RIDGE DEVELOPMENT IN THE H U M A N FOETUS
6--
8weeks
--
Volar pads appear
1 0 - - 12 weeks
--
Pads begin to regress
13 weeks
--
Primary ridges form
19 weeks
--
Secondary ridges form
20weeks
--
Dermal patterns complete MULVIHILL, J. and SMITH, D. (1969)
DERMATOGLYPHIC ANALYSIS Ridge configurations on the digits and palms fall into three major pattern categories: arch, loop and whorl (Fig. 1). These are determined by the presence of landmarks known as triradii, triangular junctions of three separate ridge systems. The radiants of the triradii probably mark the boundaries of earlier volar pad formations (Penrose, 1973). In addition to the triradii associated with the digital ?'he Hand--Vol. 11
No. 1
1979
35
A b n o r m a l Dermatoglyphics in Arthrogryposis Multiplex Congenita Pamela A. Casey and Errol Ger
patterns, there are normally four distal palmar triradii, labelled a, b, c and d. The axial triradius, usually at the base of the palm, is labelled t. Any accessory triradii are labelled accordingly. The dermal ridges tend to display a transverse orientation except in areas of volar pad formation. In these areas, the ridges are curvilinear to conform to the shape of the pad, lying at right angles to the planes of growth stress (Mulvihill and Smith, 1969). On the palm, the degree of transversality is determined by tracing the proximal radiant of each distal palmar triradius to its terminus on the palmar border, the so-called main line index. The timing and symmetry of volar pad inception and regression are responsible for pattern determination, and these processes are open to many influences. In general, the greater the height of the volar pad and the longer it persists, the greater the intensity of the pattern. Arches, with no triradii, have the lowest intensity, while whorls, with two triradii, have the highest intensity. The volar elevation of the central palm is the most short-lived, and also the area of least pattern development (Mulvihill, 1969). The thenar and hypothenar eminences have more persistent pads and a higher incidence of pattern formation. ARTHROGRYPOSIS MULTIPLEX CONGENITA
Arthrogryposis multiplex congenita, simply defined, is " a syndrome of persistent joint contractures, present at birth" (Drachman, 1961). The aetiology of the condition is largely an enigma, it was originally believed to be a primary disorder of the joints (Tachdjian, 1972). The multiple flexion contractures were thought to be the result of mechanical factors which restricted foet.al movement (Friedlander, 1968). The most plausible explanation of the contractures is abnormality of the anterior horn cells with failure of muscle innervation during foetal life (Adams, 1975). In 1966, Brehme and Baitsch reported on the dermatoglyphics of fifteen patients with the diagnosis of arthrogryposis multiplex congenita. The authors discovered that a majority of their patients showed strikingly vertical alignment of the palmar ridges. They also noted distortion of the distal palmar triradii in some patients, and abnormalities of the flexion creases. Those patients with the most severe malformations appeared to have the most marked dermatoglyphic anomalies. It is the purpose of the present study to delineate further the dermatoglyphic features of arthrogryposis multiplex congenita, and to indicate the utility of these features in differential diagnosis. MATERIALS A N D METHODS
The present study involves twenty-five patients with a diagnosis of arthrogryposis. The degree of involvement was graded according to the extremities involved: quadriparetic, either moderate or severe, if all four extremities were affected; diparetic if only the upper extremities were affected; and paraparetic if only the lower extremities were involved. The distribution of the patients is shown in Table 2. Handprints were obtained from the patients using the Faurot Inkless Method*. In cases where satisfactory prints were unobtainable, visual inspection of the hands was used as a supplement. The dermatoglyphics were analyzed according to the methods * Faurot, Inc.; New York, New York.
36
The H a n d - - V o l . 11
No. 1
1979
Abnormal Dermatoglyphics in A rthrogryposis Multiplex Congenita Pamela A. Case), and Errol Ger
TABLE 2 DERMATOGLYPHIC ABNORMALITIES IN ARTHROGRYPOSIS Total No. of Patients
Vertical Palmar Ridges
Abnormal Palmar Creases
Abnormal Finger Creases
Abnormal Palmar Patterns
Quadriparetic (severe)
9
8
9
7
7
Quadriparetic (moderate)
7
3
7
6
5
Diparetic
5
5
5
3
2
Paraparetic
4
0
1
0
0
25
16
22
16
14
Total
F R E Q U E N C Y OF A B N O R M A L D E R M A T O G L Y P H I C S
Q (severe) Q (moderate) Di P
Most Least
of Cummins and Midlo (1961). The analysis included classification of the digital and palmar patterns, evaluation of the palmar and interphalangeal flexion creases, and determination of the transversality of the palmar ridges (main line indices). RESULTS The results of the dermatoglyphic analysis are summarized in Table 2. There was a strong correlation between the clinical manifestations and the dermatoglyphic characteristics. Only three patients had handprints which could be considered normal. The most consistent findings were abnormal palmar and interphalangeal flexion creases. All but three patients, regardless of the severity of the malformations, had abnormal palmar creases. The most frequent aberrant type of crease was the simian line, or single transverse crease, although three severely involved quadriparetic patients had vertical palmar creases. Sixteen patients showed absence of interphalangeal creases, varying from absence on one finger only to complete lack of creases on all fingers. The findings of Brehme with regard to the palmar ridges were confirmed in the present study group (Fig. 2). Thirteen of twenty-five patients exhibited longitudinal orientation of their palmar ridges, which was most marked on the radial side of the hand. There were many large, unusual hypothenar patterns, and only one thenar pattern. Interdigital patterns, when present, were most often in the fourth interdigital area. The concentration of patterns on the ulnar side of the hand contrasted sharply with the predominance of vertical ridges on the radial side. In some patients, there was a little distinction between the hypothenar and distal ulnar regions o f the palm, with a large pattern encompassing the entire ulnar side of the palm. The Hand--Vol. 11
No. 1
1979
37
Abnormal Dermatoglyphics in Arthrogryposis Multiplex Congenita Pamela A. Case), and Errot Ger,
Control
Arthrocjryposis
Fig. 2. Comparison of a handprint of a ten-year-old female palienl with arthrogryposis with that of an age-matched female control. Note the complex digila] patterns, vertical pahnar .main lines, displaced palmar triradii, vertical palmar flexion creases, and absence of interphalangeal creases. This is the most severe type of dermatoglyphic malformation found among arthrogryposis patients.
The distal palmar triradii, normally located at the base of each digit except the thumb, were displaced in many instances. Patients lacking the palmo-digital flexion creases had triadii displaced distally onto the proximal phalanges. The axial triradius was frequently displaced in the ulnar direction, consistent with the presence of vertical ridges on the radial side. The digital patterns, in persons lacking interphalangeal creases, did not fall within the normal pattern areas, but often extended below the boundary usually provided by the distal finger crease. The group as a whole showed an increase in the frequency of digital whorls with a corresponding decrease in the incidence of arches compared to the general population. The frequency of loops was essentially the same in the patient group as in the control group. Many of the patients had hypoplastic ridges, especially in the central palmar region. The handprints of the mothers of twelve of the study patients were analyzed. Their dermatoglyphics revealed no anomalies similar to those seen in the handprints of the patients. No consistent pattern of features emerged which could distinguish this group from the general population. DISCUSSION
The literature contains few reports of vertical ridge alignment in persons not 38
The Hand-- Vol. 1l
No. 1
1979
A b n o r m a l Dermatoglyphics in A rthrogryposis Multiplex Congenita Pamela A. Case), and Errol Ger
affected with arthrogryposis. Cummins and Midlo (1961) mention an apparently normal woman with vertical ridges, and Holt (1964) reports a case of "Turner's syndrome in a female with a 46, XX karyotype" with similar palmar configurations. Certain chromosome anomalies, e.g. trisomy 13 and trisomy 18, show a slight tendency toward longitudinal palmar ridges on the radial side of the hand (Schaumann, 1976). The association of abnormal dermatoglyphics and arthrogryposis multiplex congenita supports the hypothesis of early prenatal pathogenesis. An interruption of the orderly sequence of tissue differentiation often produces characteristic dermatoglyphic changes, it is unlikely that restriction of foetal movement alone would produce abnormal dermatoglyphic patterns, particularly of the unique type seen in arthrogryposis. An intrinsic defect is a much more tenable explanation, such as a failure of muscle differentiation which could lead to inhibition of the volar pads. Depending upon the timing of the onset of the muscle disorder, either inception or regression of the pads might be affected, producing the unusual configurations observed in the study patients. Ridge differentiation begins on the radial side of the hand and proceeds in the ulnar direction (Hale, 1952). Inhibition of the pads on the radial side and aberrant morphology and persistence of the pads on the ulnar side are possible factors in the tendency toward more pronounced vertical ridge orientation on the radial side and increased pattern intensity on the ulnar side. Since the radiants of the triradii represent the boundaries of the volar pads, displacement of the triradii and unusual patterns are additional evidence of an error in differentiation resulting in abnormal formation a n d / o r displacement of the pads. An embryonic muscle deficit would also explain the anomalous or absent flexion creases and the hypoplastic palmar ridges. Reduced flexion potential of the hand due to lack of muscle tissue may change the crease configurations to reflect the abnormal function. Hypoplasia of the central palmar area would explain the underdeveloped ridges. The degree of dermatoglyphic abnormality reflects the severity of the clinical manifestations. Patients affected only in the lower extremities tend to have normal handprint characteristics. Those who are mildly affected have only slight dermatoglyphic changes, such as a thenar exit of main line a, or a single abnormal palmar crease. Those who are affected severely in all four extremities demonstrate the whole spectrum of characteristic dermatoglyphic anomalies. The observation of Brehme and Baitsch (1966) that the patients with normal handprints and abnormal footprints is consistent with the finding of normal handprints in three of the four paraparetic patients in the present study group. The slight lag in differentiation between the upper and lower limbs probably accounts for this phenomenon, if the prenatal insult takes place after the critical period for the upper extremities. A number of congenital abnormalities present joint contractures and other clinical signs similar to those seen in arthrogryposis. Conditions which may mimic arthrogryposis include congenital contractural arachnodactyly, Larsen syndrome, cerebral palsy, and multiple pterygium syndrome. Since prognosis, treatment, and genetic counselling may differ significantly in these disorders, establishment of an accurate diagnosis is essential. Dermatoglyphic analysis can facilitate differential diagnosis. The combination of vertical palmar ridges, absent interphalangeal creases, distorted triradii, and abnormal palmar flexion creases seems to be The H a n d - - Vol. I I
No. 1
1979
39
Abnorrnal Dermatoglyphics in A rthrogryposis Multiplex Congenita Pamela A. Casey and Errol Ger
pamognomonic for arthrogryposis multiplex congenita. A differential diagnosis may be aided in many cases by the presence of the longitudinal ridges alone. ACKNOWLEDGEMENTS
We wish to thank Patrick Moran and Rupa Redding for their help in collecting the handprints and Mrs. Connie Clark, Dr. Henry Cowell, and Dr. Mary Telfer for their advice and encouragement. REFERENCES ADAMS, R. D. Diseases of Muscle; A Study in Pathology. Hagerstown, Maryland, 3rd Ed. Harper and Row, 1975 p. 242. BREHME, H. and BAITSCH, H. (1966) Hautleistenbefunde bei 15 Patienten mit Arthrogryposis multiplex congenita, Humangenetik, 2: 344-354. CUMMINS, H. (1926) Epidermal-Ridge Configurations In Developmental Defects, With Particular Reference To The Ontogenetic Factors Which Condition Ridge Direction, The American Journal of Anatomy, 38: 89-151. CUMMINS, H. (1936) Dermatoglyphic stigmata in mongolian idiocy (Abstract), Anatomical Record, 64 (Suppl. 3): II. CUMMINS, H. (1939) Dermatoglyphic Stigmata In Mongoloid Imbeciles, Anatomical Record, 73: 407-415. CUMMINS, H. and MIDLO, C. Finger Prints, palms and soles; an introduction to dermatoglyphics. New York, Dover Publications. (1961). DRACHMAN, D. B. and BANKER, B. Q. (1961) Arthrogryposis Multiplex Congenita. Case Due to Disease of the Anterior Horn Cells, Archives of Neurology, 5: 77-93. FRIEDLANDER, H. L., WESTIN, G. W. and WOOD, W. L. Jr. (1968) Arthogryposis Multiplex Congenita. A Review of I=orty-five Cases. The Journal of Bone and Joint Surgery, 50A: 89-112. HALE, A. R. (1952) Morphogenesis Of Volar Skin In The Human Fetus, The American Journal of Anatomy, 91: 147-181. HOLT, S. B. and LINDSTEN, J. (1964) Dermatoglyphic Anomalies in Turner's Syndrome, Annals of Human Genetics, 28: 87-100. MULVIHILL, J. J. and SMITH, D. W. (1969) The genesis of dermatoglyphics, The Journal of Pediatrics, 75: 579-589. PENROSE, L. S. and O'HARA, P. T. (1973) The Development of the Epidermal Ridges. Journal of Medical Genetics, 10: 201-208. SCHAUMANN, B. and ALTER, M. Dermatoglyphics in Medical Disorders, New York, SpringerVerlag, 1976. 163-166. TACHDJIAN, M. O. Pediatric Orthopedics, Philadelphia, W. B. Saunders Co. 1972 p. 232. WALKER, N. F. The current status of research on dermatoglyphics in medical constitution, in Genetics today, Proceedings of XI International Congress of Genetics, The Hague, The Netherlands September 1963 3: 981-990. ed S. J. Geerts, Oxford Pergamon Press. 1965. WURTH, A. (1937) Die Entstehung der Beugefurchen der menschlichen Hohlhand, Zeitschrift for Morphologie und Anthropologie, 36: 187-214.
40
The H a n d - - V o l . 11
No. 1
1979
A B N O R M A L DERMATOGLYPHICS IN ARTHROGRYPOSIS MULTIPLEX CONGENITA P A M E L A A. CASEY and E R R O L GER, Wilmington, Delaware SUMMARY
Dermatoglyphic abnormalities have been found in patients with arthrogryposis multiple congenita. These unusual fealures, which appear to be pathognomonic, indicale an early prenatal palhogenesis and may aid in differential diagnosis. INTRODUCTION Dermatoglyphics, the configurations of the ridged skin of the fingers, palms, toes and soles (Fig. 1), are of considerable value in the diagnosis and delineation of many congenital defects. Formed early in gestation, the dermal patterns are a reflection of the combined genetic and environmental influences on the developing foetus. Down's syndrome was the first disorder to be associated with unusual dermatoglyphic features (Cummins, 1936 & 1939). This discovery occurred more than twenty years before the establishment of the chromosomal basis of Down's syndrome. Prior to this, extensive studies on normal and malformed hands by Cummins and others had led to the hypothesis that the dermal ridges form transversely to the planes of growth stress in the foetal hand and conform to the shape of the developing hand (Cummins, 1926). These early researchers were aware that errors in the development of the hand could result in anomalous dermatoglyphic configurations. In more recent times, dermatoglyphics have attracted increasing attention with respect to malformation syndromes, especially those of chromosomal origin. EMBRYOLOGY
The relationship between congenital defects and abnormal dermatoglyphics is best understood from a developmental viewpoint. The dermal ridges form from the elevations of mesenchymal tissue known as the volar pads, which are equivalent to the walking pads of animals. The emergence of these pads and the later ridge patterns are primarily determined by a multiple gene system, but intrinsic or environmental disturbances in development may significantly alter the genetic effects (Mulvihill, 1969). Insults to the foetus during the critical period of organogenesis and concurrent ridge formation produce varying dermatoglyphic changes, depending upon the timing of the interference. The chronology of dermal pattern development is summarized in Table 1. The flexion creases of the fingers and palms were not included in the original definition of dermatoglyphics. Early researchers believed that crease formation was a result of motion of the foetal hand, and that abnormal patterns of movement led to abnormal crease types. This hypothesis was contradicted by Wurth (1937), who observed crease formation prior to eight weeks gestation, before the hand is capable of coordinated movement. The creases apparently form concurrently with the process of volar pad and ridge development, and the term " d e r m a t o g l y p h i c s " is now understood to encompass the flexion creases as well as the ridge patterns (Walker, 1965). Pamela A. Casey, B.A. Clinical Research Department, Alfred I. duPont Institute, p . o . Wilmington, Delaware 19899, U.S.A. 34
The Hand-Vol. II
Box 269,
No. 1
1979
Abnormal Dermatoglyphics in Arthrogryposis Multiplex Congenita Pamela A. Casey and Errol Ger
Main
Fig. 1. Schematic normal handprint, showing digital pattern types, palmar triradii (a, b, c, d and t) and their main lines, and palmar creases.
TABLE 1 TIMETABLE OF DERMAL RIDGE DEVELOPMENT IN THE H U M A N FOETUS
6--
8weeks
--
Volar pads appear
1 0 - - 12 weeks
--
Pads begin to regress
13 weeks
--
Primary ridges form
19 weeks
--
Secondary ridges form
20weeks
--
Dermal patterns complete MULVIHILL, J. and SMITH, D. (1969)
DERMATOGLYPHIC ANALYSIS Ridge configurations on the digits and palms fall into three major pattern categories: arch, loop and whorl (Fig. 1). These are determined by the presence of landmarks known as triradii, triangular junctions of three separate ridge systems. The radiants of the triradii probably mark the boundaries of earlier volar pad formations (Penrose, 1973). In addition to the triradii associated with the digital ?'he Hand--Vol. 11
No. 1
1979
35
A b n o r m a l Dermatoglyphics in Arthrogryposis Multiplex Congenita Pamela A. Casey and Errol Ger
patterns, there are normally four distal palmar triradii, labelled a, b, c and d. The axial triradius, usually at the base of the palm, is labelled t. Any accessory triradii are labelled accordingly. The dermal ridges tend to display a transverse orientation except in areas of volar pad formation. In these areas, the ridges are curvilinear to conform to the shape of the pad, lying at right angles to the planes of growth stress (Mulvihill and Smith, 1969). On the palm, the degree of transversality is determined by tracing the proximal radiant of each distal palmar triradius to its terminus on the palmar border, the so-called main line index. The timing and symmetry of volar pad inception and regression are responsible for pattern determination, and these processes are open to many influences. In general, the greater the height of the volar pad and the longer it persists, the greater the intensity of the pattern. Arches, with no triradii, have the lowest intensity, while whorls, with two triradii, have the highest intensity. The volar elevation of the central palm is the most short-lived, and also the area of least pattern development (Mulvihill, 1969). The thenar and hypothenar eminences have more persistent pads and a higher incidence of pattern formation. ARTHROGRYPOSIS MULTIPLEX CONGENITA
Arthrogryposis multiplex congenita, simply defined, is " a syndrome of persistent joint contractures, present at birth" (Drachman, 1961). The aetiology of the condition is largely an enigma, it was originally believed to be a primary disorder of the joints (Tachdjian, 1972). The multiple flexion contractures were thought to be the result of mechanical factors which restricted foet.al movement (Friedlander, 1968). The most plausible explanation of the contractures is abnormality of the anterior horn cells with failure of muscle innervation during foetal life (Adams, 1975). In 1966, Brehme and Baitsch reported on the dermatoglyphics of fifteen patients with the diagnosis of arthrogryposis multiplex congenita. The authors discovered that a majority of their patients showed strikingly vertical alignment of the palmar ridges. They also noted distortion of the distal palmar triradii in some patients, and abnormalities of the flexion creases. Those patients with the most severe malformations appeared to have the most marked dermatoglyphic anomalies. It is the purpose of the present study to delineate further the dermatoglyphic features of arthrogryposis multiplex congenita, and to indicate the utility of these features in differential diagnosis. MATERIALS A N D METHODS
The present study involves twenty-five patients with a diagnosis of arthrogryposis. The degree of involvement was graded according to the extremities involved: quadriparetic, either moderate or severe, if all four extremities were affected; diparetic if only the upper extremities were affected; and paraparetic if only the lower extremities were involved. The distribution of the patients is shown in Table 2. Handprints were obtained from the patients using the Faurot Inkless Method*. In cases where satisfactory prints were unobtainable, visual inspection of the hands was used as a supplement. The dermatoglyphics were analyzed according to the methods * Faurot, Inc.; New York, New York.
36
The H a n d - - V o l . 11
No. 1
1979
Abnormal Dermatoglyphics in A rthrogryposis Multiplex Congenita Pamela A. Case), and Errol Ger
TABLE 2 DERMATOGLYPHIC ABNORMALITIES IN ARTHROGRYPOSIS Total No. of Patients
Vertical Palmar Ridges
Abnormal Palmar Creases
Abnormal Finger Creases
Abnormal Palmar Patterns
Quadriparetic (severe)
9
8
9
7
7
Quadriparetic (moderate)
7
3
7
6
5
Diparetic
5
5
5
3
2
Paraparetic
4
0
1
0
0
25
16
22
16
14
Total
F R E Q U E N C Y OF A B N O R M A L D E R M A T O G L Y P H I C S
Q (severe) Q (moderate) Di P
Most Least
of Cummins and Midlo (1961). The analysis included classification of the digital and palmar patterns, evaluation of the palmar and interphalangeal flexion creases, and determination of the transversality of the palmar ridges (main line indices). RESULTS The results of the dermatoglyphic analysis are summarized in Table 2. There was a strong correlation between the clinical manifestations and the dermatoglyphic characteristics. Only three patients had handprints which could be considered normal. The most consistent findings were abnormal palmar and interphalangeal flexion creases. All but three patients, regardless of the severity of the malformations, had abnormal palmar creases. The most frequent aberrant type of crease was the simian line, or single transverse crease, although three severely involved quadriparetic patients had vertical palmar creases. Sixteen patients showed absence of interphalangeal creases, varying from absence on one finger only to complete lack of creases on all fingers. The findings of Brehme with regard to the palmar ridges were confirmed in the present study group (Fig. 2). Thirteen of twenty-five patients exhibited longitudinal orientation of their palmar ridges, which was most marked on the radial side of the hand. There were many large, unusual hypothenar patterns, and only one thenar pattern. Interdigital patterns, when present, were most often in the fourth interdigital area. The concentration of patterns on the ulnar side of the hand contrasted sharply with the predominance of vertical ridges on the radial side. In some patients, there was a little distinction between the hypothenar and distal ulnar regions o f the palm, with a large pattern encompassing the entire ulnar side of the palm. The Hand--Vol. 11
No. 1
1979
37
Abnormal Dermatoglyphics in Arthrogryposis Multiplex Congenita Pamela A. Case), and Errot Ger,
Control
Arthrocjryposis
Fig. 2. Comparison of a handprint of a ten-year-old female palienl with arthrogryposis with that of an age-matched female control. Note the complex digila] patterns, vertical pahnar .main lines, displaced palmar triradii, vertical palmar flexion creases, and absence of interphalangeal creases. This is the most severe type of dermatoglyphic malformation found among arthrogryposis patients.
The distal palmar triradii, normally located at the base of each digit except the thumb, were displaced in many instances. Patients lacking the palmo-digital flexion creases had triadii displaced distally onto the proximal phalanges. The axial triradius was frequently displaced in the ulnar direction, consistent with the presence of vertical ridges on the radial side. The digital patterns, in persons lacking interphalangeal creases, did not fall within the normal pattern areas, but often extended below the boundary usually provided by the distal finger crease. The group as a whole showed an increase in the frequency of digital whorls with a corresponding decrease in the incidence of arches compared to the general population. The frequency of loops was essentially the same in the patient group as in the control group. Many of the patients had hypoplastic ridges, especially in the central palmar region. The handprints of the mothers of twelve of the study patients were analyzed. Their dermatoglyphics revealed no anomalies similar to those seen in the handprints of the patients. No consistent pattern of features emerged which could distinguish this group from the general population. DISCUSSION
The literature contains few reports of vertical ridge alignment in persons not 38
The Hand-- Vol. 1l
No. 1
1979
A b n o r m a l Dermatoglyphics in A rthrogryposis Multiplex Congenita Pamela A. Case), and Errol Ger
affected with arthrogryposis. Cummins and Midlo (1961) mention an apparently normal woman with vertical ridges, and Holt (1964) reports a case of "Turner's syndrome in a female with a 46, XX karyotype" with similar palmar configurations. Certain chromosome anomalies, e.g. trisomy 13 and trisomy 18, show a slight tendency toward longitudinal palmar ridges on the radial side of the hand (Schaumann, 1976). The association of abnormal dermatoglyphics and arthrogryposis multiplex congenita supports the hypothesis of early prenatal pathogenesis. An interruption of the orderly sequence of tissue differentiation often produces characteristic dermatoglyphic changes, it is unlikely that restriction of foetal movement alone would produce abnormal dermatoglyphic patterns, particularly of the unique type seen in arthrogryposis. An intrinsic defect is a much more tenable explanation, such as a failure of muscle differentiation which could lead to inhibition of the volar pads. Depending upon the timing of the onset of the muscle disorder, either inception or regression of the pads might be affected, producing the unusual configurations observed in the study patients. Ridge differentiation begins on the radial side of the hand and proceeds in the ulnar direction (Hale, 1952). Inhibition of the pads on the radial side and aberrant morphology and persistence of the pads on the ulnar side are possible factors in the tendency toward more pronounced vertical ridge orientation on the radial side and increased pattern intensity on the ulnar side. Since the radiants of the triradii represent the boundaries of the volar pads, displacement of the triradii and unusual patterns are additional evidence of an error in differentiation resulting in abnormal formation a n d / o r displacement of the pads. An embryonic muscle deficit would also explain the anomalous or absent flexion creases and the hypoplastic palmar ridges. Reduced flexion potential of the hand due to lack of muscle tissue may change the crease configurations to reflect the abnormal function. Hypoplasia of the central palmar area would explain the underdeveloped ridges. The degree of dermatoglyphic abnormality reflects the severity of the clinical manifestations. Patients affected only in the lower extremities tend to have normal handprint characteristics. Those who are mildly affected have only slight dermatoglyphic changes, such as a thenar exit of main line a, or a single abnormal palmar crease. Those who are affected severely in all four extremities demonstrate the whole spectrum of characteristic dermatoglyphic anomalies. The observation of Brehme and Baitsch (1966) that the patients with normal handprints and abnormal footprints is consistent with the finding of normal handprints in three of the four paraparetic patients in the present study group. The slight lag in differentiation between the upper and lower limbs probably accounts for this phenomenon, if the prenatal insult takes place after the critical period for the upper extremities. A number of congenital abnormalities present joint contractures and other clinical signs similar to those seen in arthrogryposis. Conditions which may mimic arthrogryposis include congenital contractural arachnodactyly, Larsen syndrome, cerebral palsy, and multiple pterygium syndrome. Since prognosis, treatment, and genetic counselling may differ significantly in these disorders, establishment of an accurate diagnosis is essential. Dermatoglyphic analysis can facilitate differential diagnosis. The combination of vertical palmar ridges, absent interphalangeal creases, distorted triradii, and abnormal palmar flexion creases seems to be The H a n d - - Vol. I I
No. 1
1979
39
Abnorrnal Dermatoglyphics in A rthrogryposis Multiplex Congenita Pamela A. Casey and Errol Ger
pamognomonic for arthrogryposis multiplex congenita. A differential diagnosis may be aided in many cases by the presence of the longitudinal ridges alone. ACKNOWLEDGEMENTS
We wish to thank Patrick Moran and Rupa Redding for their help in collecting the handprints and Mrs. Connie Clark, Dr. Henry Cowell, and Dr. Mary Telfer for their advice and encouragement. REFERENCES ADAMS, R. D. Diseases of Muscle; A Study in Pathology. Hagerstown, Maryland, 3rd Ed. Harper and Row, 1975 p. 242. BREHME, H. and BAITSCH, H. (1966) Hautleistenbefunde bei 15 Patienten mit Arthrogryposis multiplex congenita, Humangenetik, 2: 344-354. CUMMINS, H. (1926) Epidermal-Ridge Configurations In Developmental Defects, With Particular Reference To The Ontogenetic Factors Which Condition Ridge Direction, The American Journal of Anatomy, 38: 89-151. CUMMINS, H. (1936) Dermatoglyphic stigmata in mongolian idiocy (Abstract), Anatomical Record, 64 (Suppl. 3): II. CUMMINS, H. (1939) Dermatoglyphic Stigmata In Mongoloid Imbeciles, Anatomical Record, 73: 407-415. CUMMINS, H. and MIDLO, C. Finger Prints, palms and soles; an introduction to dermatoglyphics. New York, Dover Publications. (1961). DRACHMAN, D. B. and BANKER, B. Q. (1961) Arthrogryposis Multiplex Congenita. Case Due to Disease of the Anterior Horn Cells, Archives of Neurology, 5: 77-93. FRIEDLANDER, H. L., WESTIN, G. W. and WOOD, W. L. Jr. (1968) Arthogryposis Multiplex Congenita. A Review of I=orty-five Cases. The Journal of Bone and Joint Surgery, 50A: 89-112. HALE, A. R. (1952) Morphogenesis Of Volar Skin In The Human Fetus, The American Journal of Anatomy, 91: 147-181. HOLT, S. B. and LINDSTEN, J. (1964) Dermatoglyphic Anomalies in Turner's Syndrome, Annals of Human Genetics, 28: 87-100. MULVIHILL, J. J. and SMITH, D. W. (1969) The genesis of dermatoglyphics, The Journal of Pediatrics, 75: 579-589. PENROSE, L. S. and O'HARA, P. T. (1973) The Development of the Epidermal Ridges. Journal of Medical Genetics, 10: 201-208. SCHAUMANN, B. and ALTER, M. Dermatoglyphics in Medical Disorders, New York, SpringerVerlag, 1976. 163-166. TACHDJIAN, M. O. Pediatric Orthopedics, Philadelphia, W. B. Saunders Co. 1972 p. 232. WALKER, N. F. The current status of research on dermatoglyphics in medical constitution, in Genetics today, Proceedings of XI International Congress of Genetics, The Hague, The Netherlands September 1963 3: 981-990. ed S. J. Geerts, Oxford Pergamon Press. 1965. WURTH, A. (1937) Die Entstehung der Beugefurchen der menschlichen Hohlhand, Zeitschrift for Morphologie und Anthropologie, 36: 187-214.
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The H a n d - - V o l . 11
No. 1
1979