Stefan Nordström

Chronic recurrent multifocal osteomyelitis and pustulosis palmoplantaris

Based on nine patients 4 to 26 years of age, we describe the clinical characteristics of chronic recurrent multifocal osteomyelitis. This disorder was characterized by an insidious onset of fever, local swelling and pain in affected bones, and radiologic findings suggesting osteomyelitis. The lesions were mainly localized to the clavicles and the metaphyses of tubular bones. The clinical course was characterized by intermittent periods of exacerbation and improvement over several years. Six of the patients had recurrent pustulosis palmaris and plantaris, which closely parallelled the exacerbations of the bone lesions. Biopsies from the bone lesions showed nonspecific inflammatory changes with granulocytic infiltration. Repeated bacterial and fungal cultivations from blood, bone biopsies, and pustules were negative. Immunologic investigation revealed no abnormality common to the patients. There was no indications of a genetic etiology. The pathogenesis of the disorder is unknown. Antibiotic treatment had no obvious effect but corticosteroid therapy appeared to be of benefit in some patients. The long-term prognosis appears to be relatively good.

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

A large Swedish family with more than 250 cases of Bests macular dystrophy has been clinically and genetically studied. The gene was traced to a couple born in central Sweden in the 17th century. Highly significant evidence for genetic linkage to DNA markers on chromosome 11q13 was detected. A lod score of 15.12 was obtained at recombination fraction 0.01 with DNA marker INT2 (also called FGF3). The retinally expressed gene ROM1, which maps to the same chromosomal region is a candidate for this genetic disease.

Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children

In Sweden, more than 250 cases of hereditary macular degeneration (HMD), inherited as an autosomal dominant trait and consistent with Bests disease, have been traced to one gene source in the 17th century. In this large material an apparently homozygous father was found, who was aged 56 and had 11 affected children. One of the children, aged 24, did not show any macular degeneration, but nevertheless she was considered to be a carrier of the HMD‐gene because she had pathological EOG‐values. The great variations in expressivity of the disease in the 11 children reflected what has been found as a rule in large Swedish families with HMD. The homozygotic stage did not seem to differ in clinical appearance from the heterozygotic.

EOG in a large family with hereditary macular degeneration. (Best's vitelliform macular dystrophy) identification of gene carriers.

A total of 128 descendants from one large family with a history of hereditary macular degeneration (HMD) were examined with EOG. Of these, 42 were affected patients, 48 were healthy offsprings to affected parents, and 38 were normal controls. Affected subjects had a light peak/dark trough ratio smaller than 1.40. In the group of offspring of affected parents the Lp/Dt ratios showed a bimodal distribution dividing the group into two parts, one with values less than 1.40 and another with values larger than 1.70. Thus carriers of the HMD gene can apparently be identified by use of EOG. The affected subjects and the carriers had a lower base value of the standing potential than the controls.

Hereditary pyrophosphate arthropathy (familial articular chondrocalcinosis) in Sweden.

Genealogical links between three Swedish families with hereditary pyrophosphate arthropathy were found in the 18th century, indicating a possible founder effect, similar to earlier findings in Slovakia, France and Chile. However, no connection between the Swedish and other European families with the disease has so far been found. In accordance with other reported familial aggregations of pyrophosphate arthropathy, the transmission of the disease in the Swedish families appeared to be autosomal dominant with incomplete penetrance and variable expressivity. Severe symptoms related to homozygotic cases reported in some other families were not found in Sweden.

Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden.

Two families from northern Sweden with a total of 8 patients with typical symptoms of congenital achromatopsia with amblyopia were studied. In one of the families 4 affected children (3 brothers and 1 sister) also showed pallor of the optic discs and marked astigmatism. The transmission of the disease was consistent with an autosomal recessive inheritance in both families. The study confirmed that complete and incomplete achromatopsia might be different expressions of the same gene. Six out of 13 near relatives of the achromatic patients showed minor colour vision defects, suggesting a tendency towards heterozygotic manifestation of the gene.

URINARY METABOLIC STUDIES IN HEREDITARY MACULAR DEGENERATION

Urinary metabolic studies by means of high‐voltage paper electrophoresis (HVPE) and some qualitative chemical tests were performed in 40 patients in a family with hereditary macular degeneration and in 40 nonaffected members of the same family. No biochemical abnormalities were observed in the examined urine samples. The results are discussed with regard to earlier published reports of aminoaciduria in hereditary macular degeneration.

A GENETIC STUDY OF CONGENITAL HEREDITARY MACULAR DEGENERATION IN THE COUNTY OF VäSTERBOTTEN, SWEDEN

Two pedigrees of two separate families are presented. In one of them, hereditary macular degeneration was confirmed in 24 out of 43 cases examined ophthalmologically. They belonged to 3 generations. By means of the parish catechetical meeting examination records, it has ‐ to a rather high degree of accuracy ‐ been possible to follow the disease back another 4 generations to the 18th century. In the other family, there were 6 patients with congenital macular degeneration. It was only possible to follow the disease in 5 generations because of illegitimacy. The mode of inheritance in both families is autosomal dominant with high penetrance and varied expressivity.