Nail pate/la syndrome 
Case report 
NAIL PATELLA SYNDROME 
V. Feier and C. Solovan 
ABSTRACT 
A case ofnail-patella syndrome (NPS) with bone anomalies but without evidentrenal manifestations is presented. Additionally 
to nail dystrophy anomalies which have not been reported before are deseti bed: absence of the styloid apophysis of the cubitus 
and absence ofthe complete link ofthe iliac wings cartilage. It is emphasized thatdermatologists andradiologists should be aware 
of diagnosing NPS early to anticipate possible renal involvement. 
KEYWORDS 
nail-patella syndrome, 23 year-old female, case repolt 
INTRODUCTION 
In the nail patella syndrome (NPS) or hereditary onycho-
osteoarthroplasia, tissues of ectodermal as well as of 
mesodermal origin are involved. An autosomal dominant 
inheritance of variable expressivity but high penetrance is 
generally assumed (1). Females of sholt stature are more 
frequently affected. The NPS locus is at 9q34 linked to the 
ABO group (2). In 1965, 225 patients with this syndrome 
were living in Great Britain. The estimated prevalence is 22/ 
million inhabitants, while the mutation rate is estimated 1.9 
millions alele/generation (3). 
The syndrome is characterized byfour groups of symptoms: 
acta dermatovenerologica AP A. Vol 2, 93, No 3 
1. Complete or partial absence of fingernails, the tumb-nail 
is absent or most severely affected. The severity of nail 
dysn·ophy is decreasing from index to the small finger (from 
the radial to the ulnar side) 
2. Bony dysplasia of the knee aerea: hypoplasia or aplasia of 
patella,hypoplasiaofthelateralfemoralcondylus,dislocation 
of the knee with subluxation of the patella. 
3. Bony displasia ofthe elbow consisting ofthe hypoplasia of 
the capitellum and of the radial head. 
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Nail pate/la syndrome 
4. Presence of iliac horns 
In some families a nephropathy has been described as a 
complication of the syndrome: by light and electron 
microscopy a thickened glomerular basement membrane 
with irregular zones ofrarefication (4, 5, 6). 
CASE PRESENT A TION 
The family history was unremarkable 
The 23 year-old patient L.A. presented herself for a 
dermatological consultation because severa! nail dystrophies 
on her hands. The alterations were present since birth. 
Figure 1: The patient is incapable of performing a complete 
extension in the elbow joint, and has difficulties in the 
pronation and supination movements, too. 
96 
A dermatological inspection revealed a complete absence 
of nails of both thumbs, pterigium unguium and 
onychoatrophy of fingers 2,3 and 4 on both hands as well as 
of the fifth finger on the righthand. The nail of the fifth finger 
ofthe left hand was normal. The patient complained that she 
could not extend completely her elbows (Fig. 1) and that she 
had difficulties carrying out the pronation and supination 
movements. At the age of 10 years she underwent a surgical 
treatment for recurrent dislocations of the left patella. The 
nails on the toes were normal. The 2nd, 3rd and 4th fingers on 
both hands displayed an axial deviation (Fig. 2). 
The routine laboratory tests e.g. WBC, RBC, ESR, serum 
electrophoresis, glucose, thymol turbidity, serum calcium, 
Figure 2: Absence of nails on both thumbs; dystrophy and 
pterigium unguium of fingers 2, 3 and 4 as we/1 as of jing er 
5 on the right hand. 
ALT and AST were within normal limits. Additionally the 
blood group A II, an eosinophylia of 6 %, a serum iron leve! 
of28.2 urno! (normal values up to 26 urno!) and a proteinuria 
of less than 200 mg/24 h were found. 
The cytogenetic investigation was also within the normal 
limits. 
X-ray examination revealed the following changes: 
The fingers 2 and 3 of the right hand and 3 and 4 of the left 
hand presented an axial deviation at the leve! ofthe proximal 
interphalangeal joint; there was a cubital deviation of the of 
the metacarpo-phalangeal joints of fingers 3 and 4 of the left 
hand and an osteosclerosis of the proximal apophysis of the 
phalanges of the right hand; the second phalanges of both 
fifth fingers were shorter; there was also a structural 
modification of carpal bones, especially the semilunar and 
the left big bone (periarticular osteosclerosis), demine-
acta dermatovenerologica A.P.A. Vol 2, 93 , No 3 
Figure 3: X ~ ray examination of the hands showed the 
absence of the styloid ulnar apophysis bilaterally. 
ralisation of the distal epiphysis of the right radius and 
absence of the styloid cubital apophysis bilaterally (Fig. 3). 
The gracil distal epiphyses ofhumerus were demineralised; 
a spotted demineralisation ofthe radius and ulna bilaterally, 
hypoplasia of the radial head with dislocation as well as a 
medial position of the olecranon were observed (Fig. 4). 
Figure 4: X - ray of the elbow articulation (joint) showed 
hypoplasia of the radia! head and luxation in thejoint, and an 
unusual position of the cubital (ulnar) head. 
The acromial processes displayed a strong obliquity, a 
medial deviation as well as an asymmetry. The scapulae were 
more convex with a thickened extemal edge. On the right 
side there was also a slight acromio-clavicular disjunction. 
acta dermatovenerologica AP A. Vol 2, 93, No 3 
The bones of the pelvis presented a periarticular sclerosis, 
incompletely linked growing cartilages of the iliac crests, 
sacralization of the L5 as well as a spina bifida. The heads of 
femur were slender bilaterally, giving the impression of coxa 
valga, the spinae iliacae posteriores inferiores were 
hypertrophic . 
Figure 5: X - ray of the knee showed hypoplasia of the patella 
and of the lateral femular condyl, bilaterally. 
The X-rays of the knees showed a demineralisation of the 
periarticular parts as well as hypoplasia of both patellae and 
lateral femoral condyles; both medial femoral condyles were 
hypertrophic, the left lateral tibial spine was flattened (Fig. 
5). The ankles displayed a periarticular demineralisation 
with a few small areas of lysis at the distal epiphysis of the 
right fibula. There was a demineralisation of the metata:rsal 
and phalangeal periarticular surfa:ces of the 2nd, 3rd, 4th and 
5th toes bilaterally. 
DISCUSSION 
The case can be considered a complete NPS with subclinical 
renal alteration. The onychodystrophy was typica:l, the severity 
of lesions decreased from the radia! to the ulnar side. The 
displasia of the nails is usuall y present from bi11h or since the 
first years of life. 
Capillaroscopy revealed dilated capillary loops in the 
dorsal pterygium with formation of a microvascular system 
between them. 
Certa:in symptoms which have been described in NPS like 
onychoschysis, hyponychium or triangular lunula (1) were 
missing in our patient. The presence of iliac homs on the 
posterior iliac crests which is one of the fm1her characteristics 
97 
ofNPS (7) was also missing in our case. Other bone dysplasias 
associated withNPS reported as: congenital absence offibula 
(9) or shoulder dysplasia, were not manifest in our patient. 
There were however expressed a thickening of the lateral side 
of scapula, spina bifida as well as dysplasia of the proximal 
epiphysis of radius. Additionally our case presented bone 
dysplasias which were not mentioned previously in the 
literature: bilateral absence of styloid apophysis, asymmetry 
of acrornial processes with a reduced glenoid cavity. 
A glomerulopathy has been described in association with 
NPS. It is characterised by deposits of collagen-like material 
at the site of glomerular basement membrane as shown by 
light microscopy (3) and electron microscopy (5, 6). 
Proteinuria is asymptomatic in about 60 % of cases while in 
5 to 8 % of patients the disease progresses towards a renal 
failure and hemodialysis becomes necessary. As our patient 
presented only a mild proteinuria a future evolution can not 
be foreseen. She declined renal biopsy. 
In addition to the changes already mentioned a thickening 
ofthe epidermal basementmembrane was detected by electron 
microscopy (11). 
CONCLUSION 
The review of the literature indicates that NPS is not so rare 
as it may appear. The majority of these patients are not 
seriously handicapped. Physicians however should bear in 
mind thatdue to changes observed in the basement membrane 
of glomeruli the condition may progress towards severe renal 
involvement. For this reason regular medica! checkups are 
indicated. 
REFERENCES 
1. Burton JL, Rook A. Genetics in dermatology. In Rook A 
et al: Textbook ofDermatology, Blackwell, Oxford, 1986, p. 
155 
2. Nora J, Fraser FC. Medical Genetics: Principles and 
Practice, Lea and Febiger, Philadelphia, 1989, p. 148 
3. Loomer RL. Shoulder girdle dysplasia associated with nail 
patella syndrome Clin Orthop 1989; 238: 112-16 
4. Del Pozzo E, Lapp H. Ultrastructure of the kidney in the 
nephropathy of thenail-patellasyndrome. Amer J ClinPathol 
1970; 54: 845-51 
5. Ben Bassat M, Cohen L, Rosenfeld J. The glomerular 
basement membrane in the nail-patella syndrome. Arch 
Pathol 1971; 92:350-55 
6. Silverman ME, Goodman RM, Cuppage FE. The nail-
patella syndrome. Arh Intem Med 1967; 120: 68-74 
7. Lucas GL, OpitzJM, Wiffer C. The nail patella syndrome. 
Clinical and genetic aspects of 5 kindreds with 38 affected 
farnily members. J Pediatr 1966; 68: 273-88 
8. HowardJL, Moore WH, Dhekne R. Nail-patellasyndrome: 
Hereditary onycho-osteodysplasia. Diagnosis by Tc-99m 
MDP bone scan. Clin Nucl Med 1990; 15: 53-4 
9. Banskota AK, Mato-Smith W, Rajbhandari S, Rosenthal 
DL. Case report 548. Skeletal Radiol 1989; 18: 318-21 
10. Burkhart CG, Bhumbra R, lannone AM. Nail-patella 
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presentation. J Amer Acad Dermatol 1980; 3: 251 -56. 
AUTHORS' ADDRESSES 
Virgil Feier M.D., Ph. D, professor of dermatology, Head ofDe1matology Deparunent, Medica! University. Marasesti 5, 
1900 Timisoara, Romania 
Caius Solovan M.D, assistant professor of dermatology, same address 
98 acta dermatovenerologica A.P.A. Vol 2, 93, No 3