Dermatoglyphics in Medical Disorders

264 Pages·1976·9.382 MB·English

by  Blanka Schaumann, Milton Alter (auth.)

Dermatoglyphics
in Medical Disorders
Dermatoglyphics
in Medical Disorders
Blanka Schaumann
Milton Alter
lS]
SPRINGER-VERLAG
New York Heidelberg Berlin
1976
Blanka Schaumann
Milton Alter
Epidemiology and Genetics Unit
University of Minnesota
and
Neurology Service
Veterans Administration Hospital
Minneapolis, Minnesota
Library of Congress Cataloging in Publication Data
Schaumann, Blanka.
Dermatoglyphics in medical disorders.
Bibliography
Includes index.
1. Cutaneous manifestations of general diseases.
2. Dermatoglyphics. I. Alter, Milton, joint author.
II. Title. [DNLM: 1. Chromosome abnormalities
-Diagnosis. 2. Dermatoglyphics. WR101
S313d]
RLl00.S33 616.07'2 75-37772
All rights reserved
No part of this book may be translated or reproduced in any form without
written permission from Springer-Verlag.
© 1976 by Springer-Verlag New York Inc.
Softcover reprint of the hardcover lst edition 1976
ISBN 978-3-642-51622-1 ISBN 978-3-642-51620-7 (eBook)
DOI 10.1007/978-3-642-51620-7
Preface
The skin on the fingertips and palmar and plantar surfaces of man
is not smooth. It is grooved by curious ridges, which form a variety
of configurations. These ridge configurations have attracted the at
tention of laymen for millenia. They have also evoked the serious
interest of scientists for more than three centuries. The anatomist
Bidloo provided a description of ridge detail in the seventeenth cen
tury. Since then, additional information has been added by anthro
pologists, biologists, and geneticists. For the last century, the fact
that each individual's ridge configurations are unique has been uti
lized as a means of personal identification especially by law enforce
ment officials. Widespread medical interest in epidermal ridges de
veloped only in the last several decades when it became apparent
that many patients with chromosomal aberrations had unusual ridge
formations. Inspection of skin ridges, therefore, promised to provide
a simple, inexpensive means for determining whether a given patient
had a particular chromosomal defect. However, the promise was
only partially fulfilled because of the inherent variability of skin ridge
configurations. It was possible to draw conclusions about ridge ab
normalities in groups of patients but not always in a given individual.
Patients and clinicians became somewhat disenchanted with the
clinical value of studying ridges. Nonetheless, considerable clinically
useful information about groups of individuals with chromosomal
defects has been discovered and therefore a knowledge of the types
of deviations associated with various medical disorders can add ap
preciably to the diagnostic armamentarium of the clinician. Unusual
v
PREFACE
ridge configurations have been shown to exist not only in patients
with chromosomal defects but also in patients with single-gene dis
orders and in some in whom the genetic basis of the disorder is unclear.
More than 30 years ago, a monograph on epidermal ridges was
published by Cummins and Midlo (1943/1961). This classic pro
vided interesting information on the historical development of the
scientific study of epidermal ridges and invaluable advice on how to
record and analyze epidermal ridge configurations. Cummins and
=
Midlo (1926) also coined the name dermatoglyphics (derma
skin; glyphics = carvings) for the scientific study of ridges as well
as the ridges themselves. This label has now gained universal accept
ance. They also included some information on a number of medical
disorders. However, their work precedes the burgeoning of cyto
genetics that has occurred in the last several years and, therefore, the
recent work on dermatoglyphics in medical disorders is not included
in their monograph. Although several works on dermatoglyphics
have appeared since publication of the Cummins and Midlo classic,
none has treated the subject comprehensively.
The present monograph attempts to fill this gap. It aims to pro
vide an illustrated guide to ridge analysis and also to bring together
the widely scattered recent and older information on dermatoglyphic
studies in medical disorders. The practicing physician may find much
of value in this book that he can apply in his day-to-day work. At
the same time, there are sufficient data to provide a reference re
source to the medical research worker. Because genetic and anthro
pologic aspects of dermatoglyphics are dealt with adequately in other
recent publications (Cummins and Midlo, 1943/1961; Martin and
Saller, 1962; Holt, 1968; Loeffler, 1969), they are not discussed in
any great detail in this book. Only sufficient information is given on
the latter topics to provide a foundation to the serious medical investi
gator. The first part of the book gives information on how to record
dermatoglyphics. The second part provides instruction in derma
toglyphic interpretation, concentrating on aspects that have medical
relevance. The third part provides up-to-date summaries of infor
mation on dermatoglyphics in a variety of medical disorders. A sec
tion is also included on palmar and finger creases, although, strictly
speaking, analysis of creases is outside the pale of dermatoglyphics.
The medical disorders discussed are a selected rather than an ex
haustive list because isolated case reports and questionable analyses
of some medical disorders have been excluded. Only well-substan
tiated data are included. The information has been collected from
both the English and the non-English literature so that dermato-
vi
PREFACE
glyphic data that may not have been readily available heretofore are
opened to a wider audience. For readers who require only summary
data, tables with the salient conclusions are provided; for those' who
require more information, the text should prove useful.
References
CUMMINS, H., and MIDLO, C.: Palmar and plantar epidermal ridge con
figurations (dermatoglyphics) in European-Americans. Am. I. Phys.
Anthropol., 9:471, 1926.
c.:
CUMMINS, H., and MIDLO, Finger Prints, Palms and Soles. Phila
delphia, Blakiston, 1943jNew York, Dover, 1961.
HOLT, S. B.: The Genetics of Dermal Ridges. Springfield, Ill., Charles C
Thomas, 1968.
LOEFFLER, L.: Papillarleisten- und Hautfurchensystem. In Becker, P. E.
(Ed.): Humangenetik. Stuttgart, G. Thieme Verlag, 1969, Vol. 1/2.
MARTIN, R., and SALLER, K.: Lehrbuch der Anthropologie. Stuttgart, G.
Fischer Verlag, 1962, Vol. III.
vii
Contents
1
Embryogenesis and Genetics of Epidermal Ridges 1
2
Methods of Recording Dermatoglyphics 13
STANDARD METHODS 15
Ink Methods 0 Inkless Methods 0 Transparent Adhesive Tape
Method 0 Photographic Method
SPECIAL METHODS 20
Hygrophotography 0 Radiodermatography 0 Plastic Mold
o Automatic Pattern Recognition
3
Dermatoglyphic Pattern Configurations 27
RIDGE DETAIL (MINUTIAE) 28
PATTERN CONFIGURATIONS 29
Fingers (Fingertip pattern configurations, Dermatoglyphic landmarks,
Patterns of middle and proximal phalanges) 0 Palms (Palmar pattern
configurations, Palmar landmarks) 0 Toes 0 Soles (Plantar pattern
configurations, Plantar landmarks)
QUANTITATIVE ANALYSIS 59
Pattern Intensity 0 Ridge Counting (Finger and toe r~dge counts,
Ridge counts of digital areas, Ridge counting in patterns lacking
ix
CONTENTS
triradii, Estimation of the ridge count on missing or mutilated finger
tips) 0 Position of Axial Triradius (atd angle, Measurement of distal
deviation, Ridge counting, Breadth ratio) 0 Main-line Index
DERMATOGLYPHIC TOPOLOGY 70
Topological Classification of Palmar Dermatoglyphics 0 Topological
Classification of Plantar Dermatoglyphics
FREQUENCY OF DERMATOGLYPHIC TRAITS IN
NORMAL POPULATIONS 77
Bilateral Symmetry 0 Sex Differences in Dermatoglyphics 0 Racial
Differences in Dermatoglyphics
4
Congenital Malformations of Dermatoglyphics 89
RIDGE APLASiA 90
RIDGE HYPOPLASIA 93
RIDGE DISSOCIATION 94
"RIDGES-OFF-THE-END" 99
5
Flexion Creases 103
EMBRYOLOGY OF FLEXION CREASES 103
CLASSIFICATION OF PALMAR FLEXION CREASES 105
Major Creases 0 Minor Creases' 0 Secondary Creases 0 Other Hand
Creases (Phalangeal creases, Metacarpophalangeal creases, Wrist
creases)
PLANTAR FLEXION CREASES 118
WHITE LINES 122
'6
Medical Disorders with Associated Dermatogly- 131
phic Abnormalities
CONGENITAL MALFORMATIONS OF HANDS AND FEET 131
Thalidomide Embryopathy 0 Absence or Hypoplasia of the Thumbs
o Triphalangy of the Thumbs 0 Holt-Oram Syndrome 0 Anonychia
x
CONTENTS
o Distal Phalangeal Hypoplasia 0 Brachydactyly 0 Camptodactyly
o Syndactyly 0 Polydactyly 0 Other Gross Hand and Foot
Malformations
AUTOSOMAL TRISOMIES 146
Trisomy 21 (Down Syndrome) 0 Trisomy 18 0 Trisomy 13
o Trisomy 8 Mosaicism
ABERRATIONS OF SEX CHROMOSOMES 173
Monosomy of the X Chromosome (Turner Syndrome) 0 Polysomies
of the X and Y Chromosomes (Klinefelter Phenotype) 0 Polysomies
of the Y Chromosome 0 Polysomies of the X Chromosome
TRIPLOIDY 183
STRUCTURAL CHROMOSOMAL ABERRATIONS 184
peletion of the Short Arm of Chromosome 5 (Cri-du~chat Syndrome)
o Deletion of the Short Arm of Chromosome 4 (Wolf-Hirschhorn
Syndrome) 0 Deletions of Chromosome 18
SINGLE-GENE DISORDERS AND DISORDERS WITH
UNCERTAIN GENETIC TRANSMISSION 196
de Lange Syndrome 0 Rubinstein-Taybi Syndrome 0 Smith-Lemli
Opitz Syndrome 0 Cleft Lip and Palate 0 Cerebral Gigantism
NONGENETIC AND EXOGENOUS FACTORS 209
Rubella Embryopathy 0 Leukemia 0 Cytomegalic Inclusion Disease
o Celiac Disease
Index 253
xi
1
Embryogenesis and
Genetics of Epidermal Ridges
Dermal ridge differentiation takes place early in fetal development.
The resulting ridge configurations are genetically determined and in
fluenced (or modified) by environmental forces. There is a paucity
of knowledge concerning the developmental mechanism that deter
mines ultimate epidermal ridge patterns but a relationship to the fetal
volar pads clearly exists because ridge patterns form at the sites of
these pads.
Fe.tal volar pads (Figure 1.1) are mound-shaped elevations of
mesenchymal tissue situated above the proximal end of the most dis
tal metacarpal bone on each finger, in each interdigital area, in the
thenar and hypothenar areas of the palms and soles, and in the calcar
area of the sole. Secondary fetal pads may be found in other areas,
such as on the central palm or as pairs on the proximal phalanges
(Mulvihill and Smith, 1969). The formation of these pads is first
visible on the fingertips in the sixth to seventh week of embryonic
development. The pads become very prominent during the subse
quent several weeks, diminish again in the fifth month, and disappear
completely in the sixth month. Within this period the ·dermal ridges
coalesce into specific patterns, replacing the volar pads. It is believed
that the presence of the volar pads as well as their size and position
are, to a large extent, responsible for the configuration of papillary
ridge patterns, as postulated by Bonnevie (1924). For example, small
pads would result in a simple pattern (arch), whereas more promi
nent pads would tend to lead to the devl,'(lopment of large and more
complex systems of ridge configurations (loops and whorls). Simi-
1