|Year : 1990 | Volume
| Issue : 2 | Page : 150-151
Nail patela elbow syndrome
VK Jain, VB Dixit, Rama Jain
V K Jain
Source of Support: None, Conflict of Interest: None
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
Nail-patella-elbow syndrome (NPES) is an autosomal dominant disorder manifesting as a triad of abnormal nails, elbows and knees. Various nail changes include discoloration of nail plate, ridging, triangular or poorly formed lunulae, koilonychia and absent or dystrophic nails particularly of ulnar half.,,, Increased carrying angle, subluxation or dislocation of radial head and limitation of movements are the important elbow joint abnormalities. Deformities of the knees are usually characterised by hypoplastic or rudimentary patellae which are displaced upwards and laterally., Other abnormalities which have been observed in this syndrome include iliac horns, thickened scapulae, hyperextensible joints, cataracts, heterochromia of iris, albuminuria and renal dysplasia.,, Rare features reported include club foot, spinabifida and Plummer-Vin son syndrome.
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|| |
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|| |
NPES was probably first described by Little in 1897. However Turner 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 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.,, Various other skeletal changes have also been described in association with this syndrome.,, 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.,, It is inherited as an autosomal dominant trait with linkage between the loci controlling the gene and that of ABO blood group.
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|| |
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[Figure - 1], [Figure - 2], [Figure - 3]