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Year : 1990  |  Volume : 56  |  Issue : 2  |  Page : 150-151

Nail patela elbow syndrome

Correspondence Address:
V K Jain

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A 15 year old male having nail-patella elbow syndrome presented with deficient nail with pterygium formation rudimentry patellae, iliac horn, increased carrying angle of elbow joints and thickened ribs. Family history was suggestive of autosomal dominant inheritance.

Keywords: Nail-patella-elbow syndrome, Pterygium

How to cite this article:
Jain V K, Dixit V B, Jain R. Nail patela elbow syndrome. Indian J Dermatol Venereol Leprol 1990;56:150-1

How to cite this URL:
Jain V K, Dixit V B, Jain R. Nail patela elbow syndrome. Indian J Dermatol Venereol Leprol [serial online] 1990 [cited 2021 Jan 24];56:150-1. Available from:

Nail-patella-elbow syndrome (NPES) is an autosomal dominant disorder manifesting as a triad of abnormal nails, elbows and knees.[1] Various nail changes include discoloration of nail plate, ridging, triangular or poorly formed lunulae, koilonychia and absent or dystrophic nails particularly of ulnar half.[2],[3],[4],[5] Increased carrying angle, subluxation or dislocation of radial head and limitation of movements are the important elbow joint abnormalities.[6] Deformi­ties of the knees are usually characterised by hypoplastic or rudimentary patellae which are displaced upwards and laterally.[6],[7] Other abnormalities which have been observed in this syndrome include iliac horns, thickened scapulae, hyperextensible joints, cataracts, heterochromia of iris, albuminuria and renal dysplasia.[1],[8],[9] Rare features reported include club foot, spina­bifida and Plummer-Vin son syndrome.[10]

We report a case of NPES with some interest­ing associations like pterygium of nails and thickened ribs which have not been reported previously in the literature.

  Case Report Top

A 15-year-old male had dystrophy of hand and toe nails since birth. The thumb nails were completely lost and the severity of des­truction was less from thumb to little finger. The thumb and ring finger nails showed ptery­gium [Figure - 1]. The toe nails were less severely deficient. The lunulae were not visible. Iliac horn was palpable on right side only. Both patellae were rudimentary and laterally dis­placed. Knee joints were unstable. Elbow joints showed increased carrying angle with limitation of movements. Family history sug­gested autosomal dominant inheritance. In addition, the patient had generalised roseolar rash, healed scar on coronal sulcus and genera­lised discrete non-tender lymphadenitis.

X-ray of pelvis showed iliac horn on right side [Figure - 2], and that of knee joints showed small laterally displaced patellae. No bony abnor­mality was seen in X-ray of elbow joints. X-ray of ribs revealed thickening [Figure - 3]. Blood group of patient was B (Rh±ve). Blood VDRL was positive in 1 : 128 dilution. Urinalysis and fundus examination revealed no abnormality.

  Comments Top

NPES was probably first described by Little[11] in 1897. However Turner[12] in 1933 noted that in addition to a triad of congenital anomalies of the nails, elbows and knees, some subjects showed flaring of the iliac crests and prominence of anterior superior iliac spines. Fong[8] termed these prominences as `Iliac horns'. After a few years iliac horns were observed in association with knee, elbow and nail changes by other authors.[6],[7],[13] Various other skeletal changes have also been described in association with this syndrome.[5],[6],[10] Combination of these ectodermal and mesodermal anomalies have been given a number of synonyms, including osteo-onychodysplasia, arthrodysplasia, nail­patella syndrome, onycho-chondroplasia and Turner's syndrome.[7],[12],[13] It is inherited as an autosomal dominant trait with linkage between the loci controlling the gene and that of ABO blood group.[14]

Our case had deficient nails with pterygium formation, rudimentary patellae, iliac horn, increased carrying angle of elbow joints and thickened ribs. We have no specific suggestions to the cause of pterygium of nails and thickened ribs, other than that they are associated with the various ectodermal and mesodermal defects seen in this syndrome.

  References Top

1.Gibbs RC, Berczeller PH and Hyman AB : Nail­patella-elbow syndrome, Arch Dermatol, 1964; 89 : 196-199.  Back to cited text no. 1    
2.Duthie RB and Hecht F : The inheritance and development of nail-patella syndrome, J Bone Joint Surg, 1963; 45B : 259-267.  Back to cited text no. 2    
3.Daniel CR, Osment LS and Noojin RO : Tri­angular lunulae, a clue to nail-patella syndrome, Arch Dermatol, 1980; 116 : 448-449.  Back to cited text no. 3    
4.Levan NE : Congenital defect of thumbnails, Arch Dermatol, 1961; 83 : 938-939.  Back to cited text no. 4    
5.Carbonara P and Alpert M : Hereditary osteo­onychodysplasia (HOOD), Amer J Med Sci, 1964; 248 : 139-151.  Back to cited text no. 5    
6.Tachdjian O Mihram : Paediatric Orthopaedics, Ist ed, WB Saunders Company, Philadelphia, 1972; p 257-264.  Back to cited text no. 6    
7.Love WH and Beiler DD : Osteo-onychodysplasia, J Bone Joint Surg, 1957; 39A : 645-650.  Back to cited text no. 7    
8.Fong EE : Iliac horns (Symmetrical bilateral central posterior processes), Radiology, 1946; 47 : 517-518.  Back to cited text no. 8    
9.Morita T, Langhlin LO, Kawano K et al : Nail­patella syndrome. Light and electron microscopic studies of the kidney, Arch Int Med, 1973; 131 271-277.  Back to cited text no. 9    
10.Samman PD : The nails in disease, 3rd ed, William Heinemann Medical Books Ltd, London, 1978; p 168.  Back to cited text no. 10    
11.Little EM : Congenital absence or delayed develop­ment of the patella, Lancet, 1897; 2 : 781-784.  Back to cited text no. 11    
12.Turner JW : A hereditary arthrodysplasia asso­ciated with hereditary dystrophy of nails, JAMA, 1933; 100 :882-884.  Back to cited text no. 12    
13.Jain VK, Pahwa US and Dashore A : Nail-patella syndrome, Ind J Dermatol Venereol Leprol, 1987; 53 : 176-178.  Back to cited text no. 13    
14.Renwick JH and. Lawler SD : Genetic linkage between the ABO and nail-patella loci, Ann Hum Genet; 1954; 19 : 312-323.  Back to cited text no. 14    


[Figure - 1], [Figure - 2], [Figure - 3]


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