approaching to a pediatric diagnosis on hand morphology..deformities and how it plays a role as a peripheral marker to a definitive diagnosis

1. HAND – A CLUE TO PEDIATRIC
DIAGNOSIS
CHAIR PERSON : Dr. SHIVAPRAKASH N C
MODERATOR : Dr. MADHAVA KAMATH
PRESENTOR :Dr. HARSHAVARDHAN.G
DEPT OF PEDIATRICS – AIMS SAH & RC

2. • Hand – embryology
• Hand in various disorders
• Disorders of the fingers
• Disorders of the nails
• Dermatoglyphics

5. Early Embryology
• Limb formation begins relatively late in
gestation after the basic body plan has taken
shape. The limb buds are first visible along the
embryonic flanks in the middle (upper) and
end(lower) of the 4th
week.
• The activation of mesenchymal cells derived
from lateral mesoderm (to form the limb
field) appears to be the crucial step.

6. • Indeed the skeletal structures of the limbs are
derived from this mesoderm as opposed to
the somatic sclerotomes that form the rest of
the skeletal system from the neck down.

8. Timetable of hand development
• Onset of development of arm bud - 27 days 4th
week
• Well-developed arm bud - 28-30 days
• Elongation of arm bud - 34-36 days 5th
week
• Formation of hand paddle - 34-38 days
• Onset of finger separation - 38-40 days
• Full separation of fingers - 50-52 days 7th
week

9. • Limb buds have a specialized distal
ectodermal region at the dorsal/ventral
margin called the apical ectodermal ridge
(AER), which signals to the underlying
mesoderm called the Progress zone.
• Limb development occurs as a result of the
continuous interactions between the
ectodermal and mesodermal components of
the bud

10. CLUBBING
• Caused by hyperactivity and opening of
anastomotic channels in the nail bed because
of anoxia and other unknown stimuli.
• Normal angle between nail and nail bed Is
lost in clubbing.
• In true clubbing, the vertical height at the
base of the nail is more than the vertical
height of the DIP joints. measurement of a
normal finger is shown here

11. Theories of Clubbing
• One theory is that clubbing is a response to
arterial hypoxaemia, in which release of an
unknown humoral substance causes dilation
of the vessels of the fingers and the toes.
• Another is that clubbing results from a
neurovascular abnormality. In support of this
is the fact that a vagal section may reverse
clubbing.

12. • Recent research studies have shown that
platelet-derived growth factors and vascular
endothelial growth factors (which are
released when platelet precursors are trapped
in the peripheral circulation) acts as
promoters of vascularity and eventually finger
clubbing.
• However, no theory adequately explains the
sheer variety of diseases in which this
phenomenon occurs

14. • HPGD gene - Hydroxyprostaglandin
Dehydrogenase

15. • Digital index
It is the sum of phalangeal depth ratio for all
10 fingers. A digital index of 10.2 or higher is
indicative of clubbing. Although a phalangeal
depth ratio of 1.0 or greater in any finger is
suggestive of clubbing, digital index is more
specific for clubbing.

16. • SCHAMROTH’S WINDOW TEST:
• In normal nails when both thumb nails are
placed in opposition there is a large diamond
shaped gap. there is reduction or
disappearance of this gap in clubbing.

19. CAUSES
• Cardiac:
Cyanotic heart diseases(TOF),
Infective Endocarditis
Eisenmerger syndrome.
• Pulmonary:
Bronchiectasis
Lung abscess
Empyema

20. • GIT: Inflammatory bowel diseases
Cirrhosis
• .NEOPLASMS:
Mesotheliomas.
• ENDOCRINAL:
Thyrotoxicosis,myxedema.
• RARE causes:
Hereditary clubbing
Unidigital clubbing

21. • PSEUDO CLUBBING:
seen in hyper parathyroidism, excessive bone
resorption may result in disappearance of the
terminal phalanges with telescoping of soft
tissues and drumstick appearance of fingers
resembling clubbing. increased curvature of nails
is not present.
• UNILATERAL CLUBBING:
• Local A-V malformations, and aneurysms, trauma,
sarcoidosis, gout

22. GRADING
• GRADE 1: Softening or sponginess of nail bed
(increase fluctuation)
• GRADE 2 : obliteration of nail bed angle with
increased Lovibond angle (N -165 degree) and +
schamroth’s sign.
• Grade 3: parrot beak/drumstick appearance with
increased convexity of nail fold
• Grade 4: swelling of fingers at all phalangeal
joints and wrists with hypertrophic pulmonary
osteo arthropathic changes(not seen in
children).

24. • Lovibond angle - angle located at the junction
between the nail plate and proximal nail fold,
and which is normally less than 160 degrees.
In clubbing, the angle exceeds 180 degrees.

25. CYANOSIS
• Bluish discoloration of the skin & mucous
membranes due to increased amount of
reduced haemoglobin (>5gm %)in capillary
bed.

26. Types-
• Central- (tongue ,lips & cheeks)
• Is due to circulatory or ventillatory insult that
leads to poor blood oxygenation in the lungs.
Develops when oxygen saturation drops <85
or <75%
• CAUSES-
Intracranial haemorrhage
tonic-clonic seizures
pneumonia/ bronchiolitis

27. • Pulmonary hypertension
• Hypoventilation
• Valvular heart diseases
• Methaemoglobinemia
• Polycythemia
• Congenital cyanotic heart disease(TOF)
• Eisenmenger syndrome.
• interstitial & Lobar pneumonia & ARDS

28. • Peripheral- (involves extrimities , fingers)
• Bluish tint in the extremities mainly due to
inadequate circulation
• Causes-
All common causes of central cyanosis
Peripheral vascular disease
Raynauds phenomenon

29. Hb level

30. PALLOR
• Synonym of anemia
• Reduction in haemoglobin concentration &
haematocrit below the lower limit of the
normal for that particular age group
• Hb level of <11g/100ml can be taken as
anemia in childhood

31. • Causes-
• Deceased production –
1) bone marrow failure
(aplastic anemia - fanconi anemia)
2) nutritional defieciency
(iron, folic acid ,vit b12)
• Increased loss –Blood loss- truma ,hookworm
infestation

32. Haemolysis-
• Congenital - hemolytic anemia,thalasasemia
• Acquired - autoimmune haemolytic anemia

33. PALMAR ERYTHEMA
• Reddening of the palms & at the thenar &
hypothenar eminences

34. • Eg- Portal hypertension
Polycythemia
Thyrotoxicosis
Rheumatoid arthritis
kawasaki disease

35. DISORDERS OF THE FINGERS
• 1) CLINODACTYLY
• 2) BRACHYDACTYLY
• 3) CAMPTODACTYLY
• 4) POLYDACTYLY
• 5) SYNDACTYLY
• 6) SYMBRACHYDACTYLY
• 7) ARACHNODACTYLY

36. DISORDERS OF THE FINGERS
• CLINODACTYLY:
• Angular deformity of the digits. shortening of
the middle phalanx of the little finger with
curvature of Little finger towards middle
finger (seen in Downs Syndrome).
• Occurs distal to MCP joint

37. Clinodactyly of the 5th
digit

38. • BRACHYDACTYLY:
• Short palm with hypoplastic middle phalanx of
the middle finger is seen.
• Eg: Downs syndrome,
Achondroplasia,
Prader Willi syndrome.

39. Brachydactyly –short palms

40. CAMPTODACTYLY:
• Nontraumatic Flexion deformity of the 5th
finger .may involve 4th
digit also. PIP is usually
affected (restricted extension)
• contracture of Proximal interphalangeal Joint
(PIJ) is usually observed.
• Eg: Downs syndrome.

41. Camptodactyly of the 5th
digit

42. POLYDACTYLY:
• Duplication of a digits ,having supernumery
fingers.
• Types- a) Preaxial deformity
b) Postaxial deformity
• Eg : Trisomy 13, Lawrence moon biedl
syndrome, Ellis-van creveld syndrome.

43. • Pre-axial: refers to the lateral/radial aspect of
the forearm
• Post-axial: refers to the medial/ulnar aspect
of the forearm
• Central: when there is absence of digits or
metacarpals in the central region of the hand

44. Preaxial polydactyly

45. Postaxial polydactyly

46. SYNDACTYLY:
• Failure of the individual digits to separate
during development produces syndactlyly.
• Most common between 2nd
and 3rd
digits
when the degree of fusion is less than 1/3rd
of
the length of the digit it may be considered as
normal variation.
• Eg: Trisomy 13, Apert syndrome.

47. Types

48. Complete Syndactyly of 3rd
& 4th
digit

49. Incomplete syndactyly of 4th
& 5th
digits

50. SYMBRACHYDACTYLY-
• Congenital abnormality, characterized by limb
anomalies consisting of brachydactyly,
syndactyly and global hypoplasia of the hand.
Eg- associated with poland syndrome

51. Symbrachydactyly

52. ARACHNODACTYLY:
• Unduly long fingers.
• Eg: Marfans syndrome
Homocystinuria
Hypogonadism.

53. Long fingers in Marfans

54. • THUMB:
• Broad thumb: Rubinstein-Taybi syndrome.
• Bifid thumb: associated with chromosomal
anomalies, Holt-Oram syndrome, Fanconi.
• ABSENT THUMB:
• Eg: Fanconi anemia
Holt-Oram syndrome
Diamond Blackfan syndrome

55. BROAD THUMB

56. BIFID THUMB

57. ABSENT THUMB

58. The 'finger length index'
•
A fundamental problem regarding the issue of
assessing finger length is that it requires a
consideration of other dimensions of the hand (or
body), in order to address any value to finger
length.
The 'finger length index' is presented here as a
simple solution to encounter the effect of sex (and
for a large part ethnicity) by means of the
following formula:
Finger length index = [ finger length / palm length +
palm breadth /2 ]

59. • The following guidelines can be used:
- Extraordinary long fingers (arachnodactyly):
finger length index > 0.960
- Long fingers: 0.900 - 0.960
- Ordinary fingers: 0.847 - 0.900
- Short fingers: 0.800 - 0.847
- Extraordinary short fingers (brachydactyly):
finger length index < 0.800.

60. • Finger length - is measured from the tip of the
3th finger to the border crease with the palm.
• Palm length - is measured from the border
crease to the distal wrist crease (which is usually
found at the midcarpal joint - see the X rays hand
example).
• Palm breadth - is measured at the end of the
metacarpals (typically the shortest distance
between the start of the life line and halfway the
ulnar palmar zone just above the heart line).

62. • - Ordinary finger length to palm breadth ratio
is defined as (25th to 75th percentile):
0.935 < FL/PB < 0.990;
- Ordinary finger length to palm length ratio is
defined as (25th to 75th percentile):
0.715 < FL/PB < 0.785.

63. SIGNS IN MARFANS SYNDROME
• THUMB SIGN: when thumb is brought across
the palm,it protrudes past ulnar border of
palm(this sign absent in homocystinuria which
mimics marfans in many ways).
• WRIST SIGN: The child can encircle his/her
wrist by grasping it with the thumb and 5th
finger (thumb and 5th
finger will overlap in this
gap).

64. THUMB SIGN (Steinberg sign)

65. WRIST SIGN (Walker murdoch sign)

68. • TRIDENT SIGN: Marked divergence between
3rd
and 4th
fingers so that the thumb,1st
two
fingers and the last 2 fingers stand out as
separate groups to give a trident appearance.

69. trident hand is seen in achondroplasia
OVERRIDING FINGERS:
• Seen in Trisomy 18(Edward syndrome).
Ectrodactyly (absent digits/split hand) :
• Absence of one or more central digits of the
hand . Mostly it is congenital with no apparent
associations.
• Eg: Ectrodactyly –Ectodermal dysplacia ( Lobster
hand )

70. Overriding fingers

71. Ectrodactyly (Lobster hands)

72. PHOCOMELIA
• Is Congenital absence of limb. It was the
notorious complication of use of thalidomide
in the 1st
trimester of pregnancy

73. • Periungual desquamation of skin in case of
kawasaki disease

74. • Carpopedal spasm in a case of TETANY. This is
due to hypocalcemia,which may be induced
by alkalosis
• It can also be precipitated by applying the
pressure of inflated BP apparatus when there
is hypocalcemia, described as trosseau’s sign

75. Carpopedal spasm

76. Generalized Hyperpigmentation
In case of -
• 1) Addisons disease
• 2) Congenital adrenal hyperplasia [CAH]
• 3) Haemochromatosis
• 4) Megaloblastic anemia -Vitamin B12
deficiency
• 5) kala azar

77. Knuckle pad hyperpigmentation

78. Cortical thumb
• It is one of the earliest sign of cerebral palsy

80. Signs in Osteoarthritis
• Haberden’s nodes -
• Hard or bony swellings that can develop in
DIP Joints
• Bouchard nodes -
• similar bony growths in PIP Joints

81. Haberden’s nodes & bouchard’s nodes
in OA

82. Dermatomyositis
• Gottron’s papules are seen

83. Hand in developmental milestones

84. SIGNS IN INFECTIVE ENDOCARDITIS
• OSLER NODES - transient small pea-sized
tender nodules in the pulp of fingers & toes
,thenar /hypothenar eminences
• Eg: Infective Endocarditis
vasculitic disorders

85. • JANEWAY LESIONS - painless nontender
erythematous macular/nodular lesions over
palms/soles
• SPLINTER HAEMORRHAGES - tiny blood clots
that tend to run vertically under the nails.
• Eg- can also be seen in IE/SLE/RA/Psoriatic
arthritis /Chronic glomerulonephritis/ cirrhosis

87. DISORDERS OF NAILS
• 1) Nail structure
• 2) Abnormalities in Nail shape / size
• 3) Changes in Nail color
• 4) Nail separation
• 5) Nail changes associated with skin disease

90. Abnormalities in Nail shape / size
• ANONYCHIA – absence of the nail plate,
usually a result of congenital disorders or
trauma and malformations of the digits

91. • Causes-
• congenital ectodermal defects, ichthyosis,
severe infection, allergic contact dermatitis,
self-inflicted trauma, Raynaud phenomenon,
lichen planus, epidermolysis bullosa, or severe
exfoliative diseases

92. • KOILONYCHIA – flattening & concavity of the
nail plate with loss of normal contour,
producing a spoon shaped nail
• Eg: Iron defieciency anemia
Plummer -Vinson syndrome
Hemochromatosis

93. Koilonychia (spoon shaped nails)

94. • PLATYONYCHIA – flattening of nail without
concavity .Longitudinal streaks & thinning of
the nail plate
• Eg: Congenital nail dysplasia, an autosomal
dominant disorder

95. • ONYCHOMADESIS-
Spontaneous proximal separation &
subsequent shedding of nail plate
• Eg- Trauma to nail matrix
Drug toxicities
Severe intrauterine distress

96. ONYCHOMADESIS

97. • NAIL PITTING – Formation of nail pits
(punctate depressions) is seen. Pinpoint areas
of aberrent keratinization & nail matrix
invasion by inflammatory cells
• Eg- Localized trauma
Psoriasis

98. Nail pitting

99. • Nail Patella Syndrome –
• an autosomal dominant disorder caused by
mutations in the transcription factor LMX1B
,in which nails are 30-50% of their normal size
& often have triangular /pyramidal lunulae

100. NAIL PATELLA SYNDROME

101. • 20 NAIL DYSROPHY- (TRACHYONYCHIA)
spectrum of nail plate surface abnormalities
that result in roughness of nail. Nail matrix
keratinization is disturbed
Eg- Lichen planus
Pemphigus vulgaris
Psoriasis
Eczema

102. 20 nail dystrophy

103. • Beau’s lines- uniform transverse grooves
originating under the proximal nail fold that
move distally with the nail growth
• Eg- Recurrent illness
Birth trauma
Toxins

109. Changes in Nail color
• LEUCONYCHIA ( white nail )– white opacity of
the nail plate
• Types – Punctate
Striate

110. • causes:
• Arsenic poisoning
Renal failure
Hypoalbuminemia
Hepatic cirrhosis
Psychogenic stresses
Occupational trauma
Zinc defieciency

111. • Black nail- Addisons disease
Antimalignancy drugs

112. • Half and half nail- white proximal and
red/brown distal half in the same nail
• Eg: chronic renal failure

113. • YELLOW NAIL SYNDROME-
• Thickened ,excessively curved, slowly growing
yellow nails without lunule. all nails are
affected.
• Eg- Recurrent Bronchitis
Bronchiectasis , Chylothorax
Defiecient Lymphatic drainage

114. Yellow nail syndrome

115. DERMATOGLYPHICS
• Refers to configurations formed by the dermal
ridges, not by flexion creases.
• Ridges & palmar creases remain unchanged
for life except for their size
• Epidermal ridges of palm are unique to each
individual & are not identical even in identical
twins

116. • FINGER PATTERN-
• The pattern at the distal phalanges of fingers
can be arches, loops, whorls or double loops.
- Triradius is the junction of three sets of
coverging epidermal ridges.
• ULNAR LOOP- ridges enter & leave from ulnar
side
• RADIAL LOOP- ridges enter & leave from radial
side

117. • Loops have one triradius, whereas whorls
have two
• Normal pattern- ulnar loop in little finger &
radial loop in index finger
• In DOWNS SYNDROME ,there may be ulnar
loops in all fingers

118. • RIDGE COUNT-
• The total no of ridges from the core of the
pattern upto the triradius gives the no. of
ridges for that finger.
• Avg value – MALE -145
FEMALE -127
Ridge count can be done after taking a
fingerprint. It will be low in klinefelter
syndrome & high in turners

119. • Pattern in palm- tri radii are formed normally
beneath each finger & the axial line
• The distal tri radii are named a, b ,c, d from
index to little finger, respectively
• the axial tri radii is called t
• . Normally t is found near the wrist but in
syndromes like DOWNS, t will be displaced
distally in the palm. atd angle becomes wider

120. • Normal atd angle is about 40-45 degree, but
in DOWNS it may be 75 or more

121. • Palmar crease-
• normally 2 deep transverse palmar creases
are expected, each stopping short of reaching
the other end of palm.
• In Downs Syndrome instead of 2 palmar
creases, one transverse Palmar crease
extending across the entire palm (Simian
Crease)is seen

122. • When there are 2 palmar creases, but the
proximal one extends across whole of the
palm , it is called SYDNEY LINE , which may be
seen in DOWNS