One proband from the Icelandic family 25291 was found homozygous for this mutation. We also identified a novel c.103g t transition in exon 2. This variant results in a p.G35X nonsense mutation (Figure 1b ) and an early truncation of the protein. [doi.org]

All neonates had difficulties in breathing, two developed aspiration pneumonia, and one had bilateral pneumothorax after intubation and died at 6 months because of pulmonary and cardiac sequelae. [ncbi.nlm.nih.gov]

Radiographyshowed bilateral pulmonary infiltrations, possibly asign of aspiration pneumonia. [docslide.net]

The child becomes severely asphyctic after delivery, probably because of aspiration of amnion debris. [doi.org]

Key features of IPS are complications in the second trimester of pregnancy, premature birth of a child with thick caseous epidermis especially on the scalp, respiratory complications (asphyxia) probably due to foetal aspiration of amniotic skin debris [medicaljournals.se]

At 2 years of age, the patient has developed an atopic skin condition with severe itching, recurrent skin infections, food intolerance and periods of wheezing. [ncbi.nlm.nih.gov]

After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. [orpha.net]

Asthma has been recorded in some cases later on in the individual's life and sign of atopic dermatitis persist, follicular hyperkeratosis and small amounts of scaling at the scalp that goes on into adulthood but otherwise the individual continues a healthy [en.wikipedia.org]

Each patient’s skin was affected severely at birth, but this turned gradually into a milder phenotype, with characteristic flat follicular hyperkeratosis. Hypereosinophilia was verified in all patients at varying ages. [doi.org]

The clinical features weredescribed by Brusasco et al,8 who noted hypereosin-ophilia and a strongly positive Darier sign as well. Infact, both our children showed positive urticarialdermographism and slight blood eosinophilia in asingle blood test. [docslide.net]

Missense mutations and non-sense mutations in FATP4 are associated with similar clinical features suggesting that missense mutations have a severe impact on FATP4 function. [ncbi.nlm.nih.gov]

Ichthyosis prematurity syndrome was suggested and the diagnosis supported by electron microscopy of a skin biopsy specimen showing pathognomonic trilamellar membrane aggregations in the stratum corneum and stratum granulosum. [atgcchecker.com]

However, IPS is more prevalent in Norway and Sweden with an estimated local carrier frequency of one in 50 suggesting a founder mutation [ 1 ]. [doi.org]

Her skin hasbeen persistently dry with a tendency to prurigo andperiodic flexural dermatitis that suggests atopic der-matitis. [docslide.net]

Radiographyshowed bilateral pulmonary infiltrations, possibly asign of aspiration pneumonia. [docslide.net]

Radiographyshowed bilateral pulmonary infiltrations, possibly asign of aspiration pneumonia. [docslide.net]