Cargando…
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...
Autores principales: | , , |
---|---|
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 |
_version_ | 1782288672070041600 |
---|---|
author | Ali, Raafia Aman, Shahbaz Nadeem, Muhammad |
author_facet | Ali, Raafia Aman, Shahbaz Nadeem, Muhammad |
author_sort | Ali, Raafia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3809253 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Professional Medical Publicaitons |
record_format | MEDLINE/PubMed |
spelling | pubmed-38092532013-12-18 Lamellar Ichthyosis with Rickets Ali, Raafia Aman, Shahbaz Nadeem, Muhammad Pak J Med Sci Case Report 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. Professional Medical Publicaitons 2013-04 /pmc/articles/PMC3809253/ /pubmed/24353599 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Ali, Raafia Aman, Shahbaz Nadeem, Muhammad Lamellar Ichthyosis with Rickets |
title | Lamellar Ichthyosis with Rickets |
title_full | Lamellar Ichthyosis with Rickets |
title_fullStr | Lamellar Ichthyosis with Rickets |
title_full_unstemmed | Lamellar Ichthyosis with Rickets |
title_short | Lamellar Ichthyosis with Rickets |
title_sort | lamellar ichthyosis with rickets |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809253/ https://www.ncbi.nlm.nih.gov/pubmed/24353599 |
work_keys_str_mv | AT aliraafia lamellarichthyosiswithrickets AT amanshahbaz lamellarichthyosiswithrickets AT nadeemmuhammad lamellarichthyosiswithrickets |