Epidermolysis bullosa junctionalis progressiva in three siblings

Three siblings of Swiss origin with epidermolysis bullosa junctionalis progressiva are described. The following clinical features were present from school age: dystrophy of the nails, non-scarring blistering of the skin, mild skin atrophy, hypodontia and dental caries. Light microscopy showed subepidermal blistering. Direct immunofluorescence was negative. On indirect immunofluorescence staining of a fresh spontaneous blister, bullous pemphigoid antigen and laminin were localized to the blister roof, and collagen IV and collagen VII to the blister base, indicating junctional splitting. Electron microscopy revealed a normal dermo-epidermal junction zone, including normal hemidesmosomes. There were no deposits of electron-dense amorphous material.     

Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings

We describe three delta-F508/G551S compound heterozygous siblings with a mild CF phenotype, characterized by mild chronic pulmonary disease, pancreatic sufficiency and increased sweat chloride levels. PCR-mediated site-directed mutagenesis detected the delta-F508 mutation on one allele, and the G551S mutation was detected by SSCP and sequence analysis of exon 11. Two previously described sisters who were homozygous for the G551S mutation had a very mild phenotype with normal sweat chloride concentrations. In our patients the mild phenotype resulted from the combined effect of the mild G551S allele with the severe delta-F508 allele.     

Congenital chylothorax in siblings

We describe two cases of congenital chylothorax in siblings with important differences from previously described familial cases. Our findings support the likelihood of an autosomal recessive inheritance in some cases of this condition, rather than X-linked recessive inheritance, which has also been suggested. Autopsy findings from one of these cases and others previously described suggest that the pathophysiological mechanisms involved may be variable.     

Hodgkin's disease in siblings

An incidence survey of Hodgkin's disease in Greater Boston during 1959-1973 detected five sibling pairs under the age of 45. The expected number is 0.7; thus, siblings of young adults with Hodgkin's disease have about a sevenfold excess risk of the disease (P = 0.0008). Eight sibling pairs, not in the incidence series, were also identified. Among all 13 pairs, 12 were sex concordant; the number expected is 6.8 (P = 0.01). The literature includes 46 sibling pairs under 45 of which 30 are sex concordant. The expected number is 23.9 (P = 0.05). Combining the present and the literature series suggests that siblings of the same sex as an affected person have a risk of Hodgkin's disease double that of siblings of the opposite sex. The sex concordance suggests that the excess Hodgkin's disease among siblings of affected persons is due either to inter-personal transmission of an etiologic agent by prolonged or intimate contact or to common-source exposures.     

Parent ratings of EAS temperaments in twins, full siblings, half siblings, and step siblings.

A twin/family design was used to explore genetic contributions to personality; to evaluate whether twins and nontwins yield different genetic results; and to test for the presence of contrast effects, the tendency of a rater to contrast one sibling with the other, thereby magnifying existing behavioral differences. The sample consisted of 708 adolescent same-sex sibling pairs from 10 to 18 years of age. Pairs included identical (monozygotic; MZ) and fraternal (dizygotic; DZ) twins, and full siblings in nondivorced families; and full, half, and unrelated siblings in stepfamilies. Mothers and fathers rated the temperament of their children on the EAS Temperament Survey (A. H. Buss & R. Plomin, 1984). Model-fitting analyses revealed significant genetic infiuences on each of the four EAS dimensions; however, for some dimensions, heritability estimates were significantly greater for twins than for nontwins. Overall, the data were best described by a sibling interaction model, which indicated significant contrast effects. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Hypothyroidism due to ectopy in siblings

Two families each had two siblings with hypothyroidism due to ectopy and hypoplasia of the thyroid. A genetic factor controlling normal thyroid development and descent may be responsible, and the importance of plasma thyroid-stimulating hormone estimation in borderline hypothyroid cases is emphasized. We suggest screening of siblings of patients with ectopic thyroid for hypothyroidism.     

Voluntary palatal tremor in two siblings

We report two siblings with palatal tremor (PT) and ear clicks who can voluntarily elicit or suppress both PT and ear clicks by just "thinking" about starting or stopping the sounds. The patients were also able to voluntarily modulate the frequency of their ear clicks and PT. They did not have any signs of cerebellar, brain stem, or other neurologic disease. These familial palatal movements may represent a variant of palatal tremor but can not satisfactorily be classified as either symptomatic or essential PT.     

Commentary: siblings in their families.

Three themes in the contributions to the Special Issue are discussed (see record 2005-16478-001 for the introduction to the Special Issue). The first is new evidence for associations between the quality of sibling relationships and children's adjustment problems and positive development, from research which also takes account of parent-child relationships, and genetic associations. The second is the new methodological approaches to studying the complexity of family patterns in which siblings play a central role (for instance with multilevel modelling) and the study of changes over time. The third is the significance of connections with relationships outside the family especially peer relationships and friendships. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Hereditary sensory autonomic neuropathy--type II in siblings

An experimental investigation has lately shown that certain allyl compounds of garlic are able to provoke acantholysis in normal human skin cultured in vitro. The acantholytic effect has been more prominent in the samples from DR4+ donor. We here report a case of superficial pemphigus which appeared spontaneously in a DR4,14+, 49-year-old man and which ran a course that proved to be affected by dietary factors, in particular by the consumption of garlic. In the absence of a conventional treatment and on a garlic-free diet only, the disease ceased for several months. Soon after an unintentional dietary test with a strongly and presumable garlic-spiced fish meal, the pemphigus recurred. Nutritional factors should be added to the ever-growing list of exogenous factors capable of inducing or perpetuating pemphigus in genetically predisposed individuals.     

Focal segmental glomerulosclerosis

Over the last 2 decades, we have learnt that focal segmental glomerulosclerosis (FSGS) is a ubiquitous phenomenon underlying the progressive deterioration of many different types of renal diseases in both pediatric and adult populations. FSGS may also be the primary renal lesion, whether in new disease entities such as glycogen storage disease and human immunodeficiency virus infection, or in idiopathic FSGS. Although the mechanism which triggers the development of primary FSGS still remains unknown, laboratory and clinical studies have identified several key pathophysiological events leading to end-stage renal disease. While therapeutic modalities have not changed remarkably, a recent study, although uncontrolled, demonstrated an impressive efficacy of intravenous steroid pulse therapy in inducing remission. Nevertheless, it remains largely unknown whether such a forced remission decreases the overall risk of developing chronic renal failure. Studies have revealed an important pathophysiological role of angiotensin and the therapeutic efficacy of angiotensin converting enzyme inhibitors in progressive loss of renal function in diseases where glomerulosclerosis is secondary; however, it remains to be verified whether these results hold true in primary FSGS. As a result of the improvement in allograft survival rate, the benefit of renal transplant outweighs the risk of recurrence of FSGS, hence transplantation continues to be a vital therapy for FSGS patients who have reached renal failure. Thus, FSGS is not one disease, but rather a range of lesions seen in many settings. The type of lesions and the patient's unique genetic factors contribute to prognosis, and also may dictate choice of optimum therapy.