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Lamellar ichthyosis with genu valgum: unfolding the link. | LitMetric

Lamellar ichthyosis with genu valgum: unfolding the link.

BMJ Case Rep

Department of Endocrinology, Gauhati Medical College, Guwahati, India.

Published: November 2012

We describe a case of lamellar ichthyosis with bilateral genu valgum. The association of genu valgum with congenital ichthyosis is rare. Our patient, a 22-year-old girl, had lamellar ichthyosis and was born with a collodion membrane. She developed progressive valgus deformity of the knees of 5 years duration associated with difficulty in walking. On evaluation, she had generalised scaly skin lesions along with bilateral genu valgum and biochemical evidence of vitamin D deficiency. Skin serves as an important site for vitamin D synthesis and thus skeletal deformities secondary to vitamin D deficiency may occur in cases of congenital ichthyosis, causing a diagnostic dilemma due to the unusual association. This case serves as a reminder that clinicians need to be aware of such an association in order to prevent, appropriately diagnose and adequately treat the rare case of congenital ichthyosis with rickets and osteomalacia.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4542963PMC
http://dx.doi.org/10.1136/bcr-11-2011-5136DOI Listing

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