Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people. Presentation
Affected babies are born in a collodion membrane, a shiny, waxy-appearing outer layer to the skin. This is shed  10–14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. Collodion baby
In medicine, the term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Appearance and treatment at birth
The appearance is often described as a shiny film looking like a layer of Vaseline. The eyelids and mouth may have the appearance of being forced open due to the tightness of the skin. There can be associated eversion of the eyelids (ectropion). Collodion babies can have severe medical consequences, mainly because the baby can lose heat and fluid through the abnormal skin. This can lead to hypothermia and dehydration. Strategies to prevent these problems are the use of emollients or nursing the baby in a humidified incubator.
A 2007 study showed the efficacy of leucine and isoleucine supplementation in one patient. Larger studies are being conducted. History
First noted by Hugh W. Josephs in 1936, the condition is however named for the pediatricians Louis K. Diamond and Kenneth Blackfan, who described congenital hypoplastic anemia in 1938. Responsiveness to corticosteroids was reported in 1951. In 1961, Diamond and colleagues presented longitudinal data on 30 patients and noted an association with skeletal abnormalities. In 1997, a region on chromosome 19 was determined to carry a gene mutated in some DBA. In 1999, mutations in the ribosomal protein S19 gene (RPS19) were found to be associated with disease in 42 of 172 DBA patients. In 2001, a second DBA gene was localized to a region of chromosome 8, and further genetic heterogeneity was inferred. Additional genes were subsequently identified. See also
List of hematologic conditions
Pure red cell aplasia

References
External links

GeneReviews/NCBI/NIH/UW entry on Diamond–Blackfan Anemia
OMIM entries on Diamond–Blackfan Anemia
Diamond–Blackfan anemia Genetics Home Reference