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Lamellar Ichthyosis with Rickets

Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalize...

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Detalles Bibliográficos
Autores principales: Ali, Raafia, Aman, Shahbaz, Nadeem, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publicaitons 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809253/
https://www.ncbi.nlm.nih.gov/pubmed/24353599
Descripción
Sumario:Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is softening of bones leading to fractures and deformities. It is caused by vitamin D deficiency & lack of adequate calcium in diet. Children, 6 to 24 months of age, are at a higher risk due to rapidly growing bones. The association between various types of ichthyoses and rickets is well documented. We report a case of lamellar ichthyosis with rickets in a 14-year-old girl from our part of the world.