23 Despite the best answer, the side effects associated with corticosteroids, mainly in the acrofacial
lesions, are relevant.
Based on the clinical features (short stature, polydactyly, and orofacial abnormalities), the differential diagnoses of the McKusick Kauffman syndrome, Jeune dystrophy, and Weyers acrofacial
dysostosis can be considered.
Mixed: various combinations of segmental, acrofacial
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial
The authors noted that this presentation was unlike typical vitiligo, "which is often bilaterally distributed in an acrofacial
pattern, or scattered symmetrically over the entire body with a predilection for extensor surfaces with a relatively early onset in life and a slowly evolving disease course.
1Mutations in various genes like FANCE SF3B4WNT7A and ATR have been implicated in Fanconianemia acrofacial
dysostosis-1 fibular aplasia withpoly-syn-oligodactyly and Seckel syndrome-1respectively suggesting their likely role in thumbpathomorphogenesis.
Vitiligo was classified according to pattern of its distribution into generalized, focal, acrofacial
(lip-tip), mucosal, segmental, universalis and unclassified.
The differential diagnosis includes acrofacial
dysostosis, oculoauriculovertebral spectrum and X-linked dominant maxillofacial dysostosis.
One case each had oral candidiasis, diabetes, hypertension, acrofacial
vitiligo in BP.
dystosis is an autosomal dominant condition with many clinical features similar to EVC.
Our patient had accessory tragi as a presenting feature which can also be found in various other syndromes like Trecher-Collins syndrome, Wolf-Hirschhorn syndrome, Nager's acrofacial
dysostosis, Wildervanck syndrome, Townes-Brocks Syndrome and Delleman syndrome.
It is usually associated with acrofacial
and urogenital malformations with or without cryptophthalmos, positive family history, umbilical hernia and bilobed lungs.