Ectrodactyly

G Kalla, Anush Garg

 Department of Dermatology, Venereology and Leprology, Dr. S.N. Medical College, Jodhpur, India

Correspondence Address:
G Kalla
4F-12, "Sugyajan", New Power House Road, Jodhpur, Rajasthan-342 003
India

Introduction

Ectrodactyly (Lobster claw hand deformity) is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands. It consists of the absence of all or part of a central ray, associated with deepening of webs at site of absence of the ray and syndactyly of the neighbouring digit. The association of ectrodactyly with cleft lip and palate was originally described by Cockayne.[1] It was known as EEC syndrome, i.e. ectrodactyly-ectodermal dysplasia - cleft lip/ palate. In literature few sporadic reports are there.[2],[3],[4]

Case Report

A-70 year-old man presented with an unrelated skin problem. Both his hands were showing lengthening and broadening of the digits.

There was fusion of middle and ring fingers of both the hands but the left hand was more robust. The fused fingers of left hand were showing outward curvature [Figure - 1].

This individual was born with syndactyly of middle and ring fingers of both hands. The size of all digits at birth was equal. The growth of all digits was more as compared to other body parts and that of fused fingers more than other digits. The digits attained the present size i.e. almost double the size of normal fingers by the age 20 years. The nails of the affected fingers were maldeveloped. Patient was left hander, could perform all his routine activities and led a normal sexual life having 5 children in whom no abnormality could be detected.

Systemic examination of the patient did not reveal any anomaly. Hair and teeth were normal. Both the feet had no abnormality. There was no history of consanguinity or any other congenital malformation. Abdominal ultrasonography did not show any abnormality.

X-ray of the hands showed enlargement of all phalanges with periarticular osteopenia and osteoporotic changes. Increased soft tissue mass and syndactyly was clearly appreciable [Figure - 2].

Discussion

Ectrodactyly is rare autosomal dominant ectodermal dysplasia. It may be associated with other ectodermal defects.[5]

The present case did not have a positive family history nor did he have any other ectodermal defect. Deepening of the web spaces of hands was not found in our case. Probably a full blown case of EEC syndrome would have shown all these features where as this individual had only ectrodactyly. More robust left hand could be explained in view of it being the dominant hand.

1.	Cockayne EA. Cleft palate-lip, hair lip, docrocystitis and cleft hand and foot. Biometrika 1936;26:60-63. [Google Scholar]
2.	Pries C, Mittleman D, Miller M, et al. The EEC syndrome. Am J Dis Child 1974;127:840-844. [Google Scholar]
3.	Rasenmann A, Shapira T, Cohen MM. Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and a review of literature. Clin Genet 1976;9:347-53. [Google Scholar]
4.	Preus M, Fraser FC. Lobster claw defect with ectodermal defects, cleft lip -palate, tear duct anomaly and renal anomaly. Clin Genet 1973;4:369-375. [Google Scholar]
5.	Rudiger RA, base w, Passarge E. Association of ectrodactyly, ectodermal dysplasia and cleft - lip - palate. Am J Dis Child 1970;120:160-163. [Google Scholar]