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At least 847 records · Page 47Linked to original sources
PubMed1978

[The Gottron syndrome from the dentist's viewpoint, case report].

Facultative changes in the teeth, mouth, and jaw in addition to acrogeria, acromicria, and facial erythema are found with Gottron's syndrome. Hypoplasia of the jaw, changes in the position of the teeth, or disproportional relations in the vertical dimensions of the face have been observed. These findings were also recorded in the case described here. The possibility of Gottron's syndrome should be considered if several of the above-mentioned symptoms are present.

Abnormalities, Multiple↗
PubMedDate not supplied

Leprechaunism: report of two cases and review.

Two new cases of leprechaunism are reported, one of which from consanguinous parents. Both cases show the clinical picture characteristic of this syndrome: severe pre- and postnatal growth failure, psychic backwardness, lack of adipose tissue, cutis laxa; elf-like face, large ears, globular eyes, hypertelorism, micrognathia and various degrees of external genitalia hypertrophy. Endocrinologically, one of the patients shows the syndrome of low T3. The role of the endocrine alterations in the etiology of the syndrome is discussed.

Abnormalities, Multiple↗
PubMed1987

[A premature aging syndrome hard to classify].

In order to describe the observation of "premature aging", in a 20 year old woman, the clinical characteristics of other genodermatosis are reviewed, and the question of differential diagnosis and etiopathogenesis is raised concluding that these syndromes would have a continuous clinicopathological spectrum with various possibilities of manifestation.

Adult↗
PubMed1987

Syndromes of premature aging.

The classic premature aging syndromes are rare disorders, all of which clinically differ a great deal from the normal aging process. None is well understood at the biochemical level, and no specific treatment exists for any of these syndromes. Genetic counseling, preventive measures in some instances, and symptomatic treatment are available. The interest of gerontologists and geriatricians in these disorders derives in part from the expectation that such presumed single-gene mutations might contribute to our understanding of the molecular basis for normal aging. Unfortunately, to date, this expectation has not been realized.

Adolescent↗
PubMed1987

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.

A male patient, 4 years 9 mo old and having progeroidal appearance, exhibited delayed mental development and multiple abnormalities of connective tissues including growth failure, osteopenia of all and dysplasia of some bones, defective deciduous teeth, loose but elastic skin, delayed wound healing with formation of thin atrophic scars, scanty scalp hair, hypotonic muscles, and hypermobile joints. Skin fibroblasts of the patient converted only about half of the core protein of the small proteodermatan sulfate to a mature glycosaminoglycan chain-bearing proteoglycan. The remaining core protein, which contained complex-type asparagine-bound oligosaccharides, was secreted with almost normal kinetics. Xylosyltransferase activity and the synthesis of other proteoglycan types were normal. Normal induction of glycosaminoglycan synthesis occurred in the presence of 1 mM, but there was very little induction in the presence of 0.01 mM p-nitrophenyl-beta-xyloside. An antibody against an N-terminal pentadecapeptide of the core protein recognized the glycosaminoglycan-free core protein from the patient less well than the chain-bearing protein treated with chondroitin ABC lyase. Though these results do not define the basic defect unambiguously, they provide the first report of a disorder being due to an abnormality in small proteoglycan biosynthesis.

Abnormalities, Multiple↗
PubMed1986

Age-related changes in bone mass in the senescence-accelerated mouse (SAM). SAM-R/3 and SAM-P/6 as new murine models for senile osteoporosis.

Age-related changes of the femoral bone mass in several strains of the senescence-accelerated mouse (SAM) were investigated. Microdensitometrically, all strains exhibited essentially the same patterns of age changes, that is, bone mass corrected by the diameter of the shaft reached the peak value when the mice were 4 or 5 months of age and then fell linearly with age up to over 20 months of age. Two strains, SAM-R/3 and SAM-P/6, which originated from the same ancestry on pedigree, had a significantly lower peak bone mass than other strains (SAM-R/1, SAM-R/2, SAM-P/1, and SAM-P/2). On the other hand, the strains with a low peak bone mass had the same rate of decrease as other strains. Mineral and collagen contents per dry weight of bone showed little difference among the strains. Histologic studies of tibia, femur, and lumbar spine revealed that the osteopenia was not due to osteomalacia but, rather, to osteoporosis. The elderly mice in these two strains were prone to fracture, thus should be important models for study of senile osteoporosis seen clinically.

Aging↗
PubMed1985

[Simultaneous occurrence of metageria and Gottron's acrogeria in one family].

We report on a 17-year-old patient suffering from generalized mottled hyperpigmentation and multiple telangiectatic lesions of the skin. The subcutaneous fatty tissue was lacking or deficient. The patient showed a bird-like face. The cutaneous changes had been present since birth. X-ray studies revealed acro-osteolysis of the hands and feet. The metabolic and endocrine data were within normal ranges except of latent hypothyroidism. The clinical picture presented all criteria of metageria. The patient's mother and sister showed similar cutaneous changes, however, restricted to the distal parts of the extremities. We diagnosed acrogeria Gottron. The incidence of both metageria and acrogeria in one family makes metageria as an independent entity doubtful.

Adipose Tissue↗