| Literature DB >> 21508572 |
Sanjiv V Choudhary1, Shazia Bisati, Sankha Koley.
Abstract
A two-month-old female infant born of a consanguineous marriage, presented with loose, wrinkled and inelastic skin over the neck, axillae, trunk, inguinal region and thighs with slow elastic recoil. Patient also had systemic manifestations in the form of bilateral apical lobe consolidation of lung, bilateral inguinal hernia, rectal and uterovaginal prolapse. Histopathological examination of skin biopsy with special stain for elastic tissue revealed absence of dermal elastic tissue. Genital abnormalities in patients with congenital cutis laxa have been reported rarely. But rectal and uterovaginal prolapse have not been reported at an early age of two months. In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa.Entities:
Mesh:
Year: 2011 PMID: 21508572 DOI: 10.4103/0378-6323.79706
Source DB: PubMed Journal: Indian J Dermatol Venereol Leprol ISSN: 0378-6323 Impact factor: 2.545