Affiliations: Department of Pathology, All India Institute of
Medical Sciences, New Delhi, India
Note: [] Correspondence: Mehar Chand Sharma,
Department of Pathology, All India Institute of Medical Sciences, New Delhi,
110029, India. Tel.: +91 11 26593371; Fax: +91 11 26588663; E-mail:
[email protected]
Abstract: The aim of this study was to assess the diagnostic utility of skin
biopsy in the diagnosis of Ullrich congenital muscular dystrophy. Paired skin
and muscle biopsies were, studied in the three cases of Ullrich disease.
Immunostaining for collagen VI was performed on both test and control biopsies.
Staining pattern in skin biopsies was compared with the muscle biopsies.
Immunoblot was performed to validate the results. Immunostaining for collagen
VI was absent in dermis in skin biopsies of all the three patients of Ullrich
disease and corroborated with findings of muscle biopsies. Immunoblot revealed
absence of collagen VI band in all the three cases. Our study suggests that
skin biopsy can be very useful for the diagnosis of Ullrich disease. Skin
biopsy being less traumatic and less invasive is easy to perform in children,
obviates the need for sedation, and is cosmetically superior to muscle biopsy.
