290 Medical Inzforinatics Europe '97 C. Pappas et al. (Eds.) IOS Press, 1997 A study of Dermatoglyphics in Gonadal Dysgenesis: a computerised analysis applicable in under-developed countries Professor Bernard Richards, Medical Informaticist, Manchester, England Dr Silvia Mandasescu, Consultant Endocrinologist, Roman Hospital, Romania Abstract. Dermatoglyphics, the study of finger-tip and palmar prints, can play an important role in suggesting or confirming the diagnosis in the case of certain congenital syndromes. The paper discusses the prints in the cases of two important syndromes viz Turner's and Klinefelter's, and shows how to differentiate between the two. 1. Introduction Some work has been done in the past in using computers as an aid in Dermatoglyphics. One aspect that is new in this paper is that the computer has been used to house a database on young people which has enabled some interesting results to be obtained for two Syndromes, Turner's Syndrome (first reported in 1938) and Klinefelter's Syndrome (first reported in 1942), results which are very new. Previous work has been concerned with examining the Dermatoglyphics of patients with Klinefelter's Syndrome [1] and with Turner's Syndrome [2]. What is new in the work described below is that our cohort contains both these types of patients allowing cross- comparisons. The earliest work on Dermatoglyphics was done by Purkinje[3] in 1823. It has been known for many years that the Dermal Ridges (the lines and ridges on the palms of the hand, and on the feet and on the fingers), begin to form between the thirteenth and nineteenth week of foetal gestation [4]. The study of the development of such patterns and their association with subsequent conditions in later life is termed "Dermatoglyphics". The dermal ridge patterning thereby provides an indelible historical record that indicates the form of the early foetal hand (or foot) [5]. NORMAL DOWN SYNDROME ta common diqtiíbutitxt Ot diQiq! pattsev+ec.. ;......uMt1r tt)pps Oft at=' dr,tits •••°••-yy üittlt bop radial bop , t..... .-..t ►f301t ulna*. bop tiiptl pad 3'4 .nterttj,tal <th inlerci>^ tfai ib!:entl4` oi . ✓ ttosF> distat Cfease '^e.. pl Stb d■Ql ..-»♦ lotatmHótale pt. (paap tadi td Sids) im:an trR sf sc d4Eat a 'Oat , telraxái.irS maxi;slgl maximal ilíC arx3tr L . sn+esin / Wet angle :t:.t:et;cr \ "I mean w.$l" nf Sher, = l^ tt,rpt:ttxrzar fi p3rierrtints 1riroairria3 a•'rsE tow., Figure 1. Palmar Prints, Normal, and DOWN Figure 2. Foetal prints at 18 weeks Medical Informatics Europe '97 291 Mild to severe alterations in hand morphology occur in a variety of syndromes. Whilst not conclusive evidence in themselves, these patterns enhance the clinicians' ability to arrive at a specific overall diagnosis of a congenital syndrome [6]. There are two general categories of dermatoglyphic alterations, viz. an aberrant pattern, and an unusual frequency of ridges and/or a distribution of a particular pattern on the finger-tips. A good example of such abnormalities occurs in Down Syndrome, a Syndrome caused by an additional chromosome number 21., otherwise known as Trisomy 21 Syndrome. Figure 1 shows a normal palm and that of a Down Syndrome palm. Figure 2 shows the development of foetal fingertip pads at 16 to 19 weeks and the resulting fingertip dermal ridge patterns. The "ridge count" is obtained as the number of ridges between the centre of a pattern and the more distant tri-radius. (The upper print has two such tri-radii: the count to the more distal one is 17). The significant patterns are those identified as (I) Open areas; (ii) Arches; (iii) Loops, open towards the thumb being radial, those away from the thumb being ulner (See Fig 1 ); and (iv) whorls. There are six zones of patterning, viz the hypothenar (distal to the thumb, (see Figure) the Thenar (nearest the thumb), and the four interdigital areas. There are also four tri-radii situated at the base of the fingers (see Figure ) identified by the letters a, b, c, d. Finally there is a major tri-radius located near the wrist, this is denoted by t (See Figure ): there may be a secondary tri-radii nearer the fingers denoted by t', noticeably in the Down Syndrome (See Figure ). The other important parameter is the atd angle. Its value depends on the position of t and is normally about 48°. Finally, the sum of the ridge counts on all ten fingers is denoted by TRC. (Total Ridge Counts). 2. The Genetic Significance of Dermatoglyphics Researchers carried out by various experts e.g. Holt (1961) lead to the conclusion that one's dermatoglyphics are an essential part of one's constitution and are an important genetic characteristic. An identical configuration is never passed on from the parents but only a tendency to inherit some of the characteristics. These characteristics are influenced in part by the genes in the parents; each parent being homozygous (same) or heterozygous (different) in the various genes. However during foetal development, these dermatoglyphic structures can be modified. The most serious dermatoglyphogenesis occurs in the compartments of the thumb, next in order of seriousness come the irregular patterns in the third finger and the little finger (fourth finger), then the middle finger (2nd) and lastly the forefinger (1st). Syndromes in which abnormal patterns are very characteristic include Down Syndrome, Turner's Syndrome (females) and Klinefelter's Syndrome (males). One might notice in passing that these syndromes are all characterised by missing or additional chromosomes, viz. Down Syndrome (an additional number 21 chromosome), Turner's Syndrome (XO, i.e. a missing Y chromosome) and Klinefelter's Syndrome (XXY, an additional, female, X chromosome) 292 Medical Informatics Europe '97 3. The Methodology of this Study Dermatoglyphic studies were carried out between 1985 and 1986 on subjects having Turner (six female cases) and Klinefelter (four male cases) Syndromes, in comparison with a control group of 100 unrelated individuals (namely 50 girls and 50 boys), those latter being between the ages of 12 and 14 years in good health and randomly selected. A dermatoglyphic record was made for each patient including digital and palmar prints, diagnosis, and other clinical parameters of each patient. The following dermatoglyphic characteristics were recorded. 1.The frequency of lacy form fields 2. The inter-digital prints 3. The terminations of the main lines (the palmar type) 4. The Thenar and Hyperthenar palmar prints 5. For digital prints, the total number of crests (TRC) 6. The number of digital crests (RC) 7. The A-D Index (ADI) 8. The number of palmar tri-radii 9. The position of the palmar t point (see Fig 1) 10.The size of the atd angle (see Fig 1) 11.The dat angle 12.The number of palmar crests Rcab, Rcbc, Rccd 13.The distance between the palmar tri-radii, ab, be For each palm, 30 items of data were recorded; hence each person had 60 items in total These were recorded in the database. Of the above 13 characteristics, items 1 to 5 inclusive were allocated a code, whilst items 6 to 13 were accorded a numerical value. 4. Results Girls Boys Turners Klinefelters 111111111111111111MIREIM Ri ht MEMO Ri ht 11211111112111111 FMIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIMIIIIIIIIIIIM 1111111111111111111111111111111111111111111111111111111111111111111111111111111111111111111 NM 1 00°<'0 66% 100% 67% 50°io 50% 34% 50% OEIIIIIMIIIMIIIINMMIIIMIMIINIMIIIIIMIIIIIIIIIIIIIIIIIMIIIII Wd 1111 17% MN 34% 34% 16% 16% ws 33% 16% 16% 34% 16% ^ 1^IIIIIIIIIIII 17°%a 1111.11011111111111111.1111 16% 16% EMIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIIINIIIIIIIIHIIIIIIIIIIIIIIIIIIIIIIIIIII BEM 100% 100% 100% 1 00% 100& 100°ío 1 00°ío 100% Table 1: The distribution of print types for Finger 1 of each hand (In the Table, all figures are percentages. The actual numbers involved are 50 girls, 50 boys, Turner Syndrome 6 cases, Klinefelter Syndrome 4 cases). Medical Informatics Europe '97 293 Many interesting results were obtained. Space prevents a full and demonstrative discussion of these. However two results can be shown here. Table 1 below shows the distribution of the digital prints for Finger 1. Similar results have been produced for the other fingers. This Table shows the significant differences between the two abnormalities and the prints of the normal cohort. The other figures are similar. (In the Table, A represents Arches; T. the tri-radius; Lo and LR Ulnar Loops and Radial Loops; Wd, W 5, we are Whorls, double, singular, and circular; and W is a normal whorl). The absence of Ulnar Loops in the left hand of a patient clearly indicating an abnormality. The full set of results for all five fingers of both hands, when taken together, clearly provide evidence suggestive of an abnormality. Using "Palmar types" (results not shown here) will distinguish between Turners and Klinefelters. 5. Conclusion The following important conclusions are to be noted. 1. Diseases with genetic predispositions are accompanied by mutations in the papillary prints which remain unchanged during the person's life. Hence the study of dermatoglyphics will be a meaningful aid in congenital diagnosis. It does not replace other methods but helps to establish the diagnosis. 2. Examination of a patient's hand and foot prints does not require special apparatus nor expensive reagents: paper and ink will suffice and these latter can be used outside the hospital, even on domicilliary visits. Hence as a diagnostic aid, these results are more economical, in monetary terms, then chromosomal analysis. This aspect is of great importance in the poorer countries. 3. The main types of syndromes in which dermatoglyphics can play a part are: (i) the chromosomic syndromes, eg Down (Trisomy 21), Edwards Trisomy 18), Patau (Trisomy 13), Cri-du-Chat (deletion on Chromosome 5), Turner, and Klinefelter; (ii) the genetically determined syndromes, e.g.