1/6. Phaeochromocytoma in children.Phaeochromocytoma is a rare disease in childhood with a subtle and wide range of clinical presentations. We report two confirmed cases and one potential case of phaeochromocytoma, each belonging to a different disease spectrum or syndromal disorder, namely sporadic phaeochromocytoma, von hippel-lindau disease, and multiple endocrine neoplasia type 2a. knowledge of the molecular basis of the condition helps to make the diagnosis. Affected individuals and their family members should be screened for any associated syndromal disorders that can carry a substantial degree of morbidity and mortality.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/6. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.epidermolysis bullosa dystrophica inversa (DEB-I) is a very rare disease characterized by autosomal recessive inheritance that causes blistering and erosions on the trunk and extremities occurring in early infancy with a predilection for flexural and mucosal areas thereafter. Ultrastructural findings show dermolytic blistering and absent or rudimentary anchoring fibrils as in generalized forms of dystrophic epidermolysis bullosa. Immunoreactivity for type VII collagen, however, is preserved. We present two patients with DEB-I with compound heterozygosity for the two different COL7A1 mutations, one of them (Arg2069Cys in exon 74) carried by the heterozygous mother, the other one (Lys142Arg in exon 3) carried by the heterozygous father, accompanied by absence of the associated anchoring fibrils protein GDA-J/F3.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/6. Familial clustering of dendriform pulmonary ossification.Dendriform pulmonary ossification is an extremely rare disease, which is usually found and analysed postmortem. Pathogenesis of pulmonary ossification is therefore still unknown. We describe two males in the same family (a 29 year-old patients and his 58 year-old father) with pulmonary ossification. The young male was symptomatic pneumothorax but his father had been asymptomatic since youth. Familial clustering of pulmonary ossifications strongly suggests a genetic predisposition for the pathogenesis. This is the first report of two cases of dendriform pulmonary ossification in the same family.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/6. Lipoprotein glomerulopathy associated with psoriasis vulgaris: report of 2 cases with apolipoprotein e3/3.Lipoprotein glomerulopathy (LPG) is a rare disease, characterized by a special histology, including dilated glomerular capillaries filled with pale-stained and meshlike lipoprotein thrombi. It always presents with proteinuria or nephrotic syndrome. Although hyperlipidemia is not always seen, most patients have type III hyperlipoproteinemia with apolipoprotein (apo) E2/3 phenotyping. Although the clinical feature of LPG is rarely described, LPG associated with other glomerulopathy, including IgA nephropathy, membranous nephropathy, and lupus nephritis, has been documented. Until now, there have been no reports of psoriasis vulgaris associated with LPG. The authors present 2 cases of LPG with apo E3/3 genotyping associated with psoriasis vulgaris. The first patient was a 65-year-old woman who presented with nephrotic syndrome with daily urinary protein loss of 9.05 g and itchy erythematous scaly plaques on her trunk and lower limbs for 1 year. The renal biopsy results showed LPG, and the skin biopsy results showed psoriasis. The second patient was a 50-year-old man with history of psoriasis over his trunk and 4 limbs for 30 years. He also presented with nephrotic syndrome with daily urinary protein loss of 7.55 g. The renal biopsy results also showed LPG. The genotype of apo E showed E3/3, and lipoprotein electrophoresis showed a type III hyperlipoproteinemia-like pattern in both cases. The authors suggest that presence of apo E3/3 genotype cannot rule out the diagnosis of type III hyperlipoproteinemia and LPG. Besides, LPG should be included in the differential diagnosis of psoriatic patients with nephrotic syndrome, especially in Asian patients who show poor response to traditional therapy. Renal biopsy should be performed to make the definitive diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/6. Focal myositis in monozygotic twins.Focal myositis is a rare disease with unknown etiology and a broad spectrum. Here, we present two cases in monozygotic twins who complained of recurrent pain of their calves and showed histological signs of inflammation and MRI image compatible with the diagnosis of focal myositis. The occurrence of twin cases not living in the same household suggests a genetic susceptibility to the disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/6. Albumin locust valley: a new case of analbuminemia.OBJECTIVE: To discover and document cases of the rare disease analbuminemia. DESIGN AND methods: blood specimens of a subject were analyzed by routine clinical laboratory procedures, by immunochemical tests for albumin, and by electrophoresis with immunofixation using anti-human serum albumin (HSA). Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and dna sequencing of the 14 exons of the HSA gene were conducted on dna from leukocytes. RESULTS: Albumin concentration was 0.003 g/L; serum globulins and cholesterol were elevated. immunoelectrophoresis showed no trace of albumin in any of the serum components. The coding region plus all mRNA splice sites were normal and mutation-free, and SSCP and HA showed no abnormalities. CONCLUSIONS: Data define a bona fide case of analbuminemia. We suggest that the mutation causing the analbuminemic trait in this subject might involve a remote regulatory element.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |