Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Autophagy/genetics , Melanoma/genetics , Skin Neoplasms/genetics , Biomarkers, Tumor/genetics , Humans , Melanoma/epidemiology , Melanoma/pathology , Prognosis , Retrospective Studies , Risk Factors , Sequestosome-1 Protein , Skin Neoplasms/epidemiology , Skin Neoplasms/pathology , Melanoma, Cutaneous MalignantABSTRACT
Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome.
Subject(s)
Agenesis of Corpus Callosum/diagnosis , Cleft Lip/diagnosis , Coloboma/diagnosis , Lipoma/diagnosis , Nasal Polyps/diagnosis , Skin Diseases/diagnosis , Brain/pathology , Child , Facies , Female , Humans , Infant, Newborn , Magnetic Resonance Imaging , Male , PhenotypeABSTRACT
The increase in reports of novel diseases in a wide range of ecosystems, both terrestrial and marine, has been linked to many factors including exposure to novel pathogens and changes in the global climate. Prevalence of skin cancer in particular has been found to be increasing in humans, but has not been reported in wild fish before. Here we report extensive melanosis and melanoma (skin cancer) in wild populations of an iconic, commercially-important marine fish, the coral trout Plectropomus leopardus. The syndrome reported here has strong similarities to previous studies associated with UV induced melanomas in the well-established laboratory fish model Xiphophorus. Relatively high prevalence rates of this syndrome (15%) were recorded at two offshore sites in the Great Barrier Reef Marine Park (GBRMP). In the absence of microbial pathogens and given the strong similarities to the UV-induced melanomas, we conclude that the likely cause was environmental exposure to UV radiation. Further studies are needed to establish the large scale distribution of the syndrome and confirm that the lesions reported here are the same as the melanoma in Xiphophorus, by assessing mutation of the EGFR gene, Xmrk. Furthermore, research on the potential links of this syndrome to increases in UV radiation from stratospheric ozone depletion needs to be completed.
Subject(s)
Cyprinodontiformes/metabolism , Fish Diseases/metabolism , Fish Proteins/metabolism , Melanoma/metabolism , Ozone Depletion , Perciformes/metabolism , Receptor Protein-Tyrosine Kinases/metabolism , Skin Diseases/metabolism , Animals , Cyprinodontiformes/genetics , Fish Diseases/epidemiology , Fish Diseases/genetics , Fish Diseases/pathology , Fish Proteins/genetics , Marine Biology/methods , Melanoma/epidemiology , Melanoma/genetics , Melanoma/pathology , Mutation/radiation effects , Oceans and Seas , Perciformes/genetics , Receptor Protein-Tyrosine Kinases/genetics , Skin Diseases/epidemiology , Skin Diseases/genetics , Skin Diseases/pathology , Ultraviolet Rays/adverse effectsABSTRACT
Blister formation and eccrine sweat gland necrosis have been recognized to occur in states of impaired consciousness and were first reported following barbiturate intoxication. Their etiology is complex and cannot simply be explained by pressure effects. Now that barbiturates are less frequently used, clinicians are likely to be less aware of the phenomenon of coma blister formation; however, newer drugs have also been associated with the occurrence of coma blisters. We describe 2 new associations of coma blisters and anticonvulsants in children. In the first child, blisters recurred on multiple occasions along with obtundation and edema. Our aims are to alert clinicians to the occurrence of coma blisters in children sedated on anticonvulsant medications and to report the new finding of recurrent coma blisters.
