1/5. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils.Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears (Jordans' anomaly) in patients with ichthyotic erythroderma leads to the diagnosis. In spite of frequent liver, muscle, ear, eye and central nervous system involvement, Dorfman-Chanarin syndrome may present clinically as monosymptomatic ichthyosis. Here, we report clinical and laboratory investigations in a consanguineous family from turkey with 3 affected family members, and demonstrate the lipid vacuoles in epidermal Langerhans' cells for the first time. Langerhans' cell phenotyping suggests that the skin inflammation is due to the gene defect and not to underlying atopic dermatitis. Microscopic examination of eosinophils for lipid vacuoles to identify conductors revealed variable percentages of normal and vacuolized eosinophils in conductors, suggesting the microscopic analysis of at least 10 eosinophils for conductor identification.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/5. Severe type II gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.Severe infantile gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for this phenotype. We document an Hispanic infant succumbing with arthrogryposis and collodion membrane covering the skin who had no detectable beta-glucocerebrosidase activity in tissue samples and who was homozygous for a rare recombinant allele, RecNciI. Microscopic evaluation demonstrated accumulation of Gaucher cells in visceral organs and extensive loss of neurons in the anterior horns, brainstem, and cortex of the nervous system. The apoptosis of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively.- - - - - - - - - - ranking = 0.2678597567014keywords = nervous system (Clic here for more details about this article) |
3/5. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.Neutral lipid storage disease (Chanarin-Dorfman syndrome) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids (lipid droplets) in various types of cells. The clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a 4-year-old boy presenting a generalized ichthyosiform disorder manifested by migrating scaly plaques alternating with areas of normal-looking skin, showing erythematous borders with sharp margins, clinically suggestive of erythrokeratoderma variabilis (EKV). A peripheral blood smear revealed cytoplasmic vacuoles in most granulocytes. Genetic studies from the patient and his parents revealed that the patient carried two different and novel mutations of the ABHD5 gene: a nonsense mutation in exon 6 (transmitted by the father) and an insertion/deletion in exon 4 (transmitted by the mother). Our observation demonstrates the clinical heterogeneity of the ichthyosiform dermatoses observed in Chanarin-Dorfman syndrome and widens the clinical range of conditions presenting migrating scaly plaques mimicking EKV.- - - - - - - - - - ranking = 582.61780474186keywords = metabolic disorder (Clic here for more details about this article) |
4/5. Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement.BACKGROUND/AIMS: Dorfman-Chanarin syndrome is a very rare condition determined by an autosomal recessive inherited disorder of neutral lipid metabolism. The syndrome is defined by the association of ichthyosiform nonbullous erythroderma, vacuoles in the leukocytes and variable involvement of liver, muscle and central nervous system. Only 19 cases have been described worldwide. methods: We studied a 16-year-old patient with congenital ichthyosis, liver and spleen enlargement and abnormal gamma-glutamyltransferase. liver biopsy, skin biopsy and blood smear showed abnormal intracellular neutral lipid storage. RESULTS/CONCLUSION: On the basis of clinical and histological findings, the patient was diagnosed as having Dorfman-Chanarin syndrome. This is the fourth reported Italian case, with a prominent skin and hepatic involvement. liver biopsy, performed in the first instance, was of great importance in reaching a diagnosis.- - - - - - - - - - ranking = 0.2678597567014keywords = nervous system (Clic here for more details about this article) |
5/5. Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases.Dorfman-Chanarin syndrome, or neutral lipid storage disease with ichthyosis, is a rare inherited metabolic disorder characterized by accumulation of neutral lipids in different tissues. Variability in dermatologic severity is not understood. We report two new cases, compare their features with other reported cases, and examine the possible relationship between the severity of the dermatologic condition and lipid accumulation in various types of skin cells. The localization of lipid droplets was determined in various dermal and epidermal cells by light microscopy of epoxy resin semithin sections and electron microscopy in four cases of Dorfman-Chanarin syndrome. Lipid droplets in the dermis were detected in fibroblasts, schwann cells in both myelinated and unmyelinated nerves, smooth muscle cells, and sweat gland cells, but not in endothelial cells of blood capillaries. The droplets were not surrounded by a membrane. Findings indicate that there is no correlation between the clinical severity of the disease and the microscopic findings.- - - - - - - - - - ranking = 582.61780474186keywords = metabolic disorder (Clic here for more details about this article) |