Progeria

Mitchell, Edward Clay; Goltman, David W.

doi:10.1001/archpedi.1940.01990130162013

Cited by 19 publications

(6 citation statements)

References 2 publications

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“…In a review of serum cholesterol levels of 13 progeric patients, each had at least one estimation above 184 mg=dL, but the ¢gures suggested high normal adult values rather than a traditional hypercholesterolemic state [30]. One 10-year-old girl had a very small cutaneous xanthoma of the abdominal wall, but no histology was performed and no xanthomatous state was evident [31]. Makhous et al found only 2 of 32 subjects in the literature with values of 300 mg=dL or above and 5 above 275 mg=dL.…”

Section: Discussionmentioning

confidence: 99%

Hutchinson-Gilford Progeria Syndrome: A Pathologic Study

Ackerman

Gilbert‐Barness

2002

Pediatric Pathology & Molecular Medicine

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Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging.The pattern of inheritance is unclear, although both autosomal recessive and autosomal dominant modes have been proposed. The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose; loss of subcutaneous fat; and failure to thrive.This condition has been reported on all inhabited continents and has been described in all major races. Laboratory ¢ndings note an increased urinary excretion of hyaluronic acid. Death results from cardiovascular abnormalities in the majority of cases and usually occurs in the second decade of life. There is no e¡ective treatment.We report the pathologic changes noted at autopsy on a 20-year-old woman with classic features of Hutchinson-Gilford progeria syndrome.

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Section: Discussionmentioning

confidence: 99%

Hutchinson-Gilford Progeria Syndrome: A Pathologic Study

Ackerman

Gilbert‐Barness

2002

Pediatric Pathology & Molecular Medicine

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“…The pituitary gland, though congested, showed no definite abnormality. The pituitary was also normal in the case of Oppenheimer and Kugel (1941); and in the postmortem accounts of progeria-a very comparable condition arising in the first or second year of life-the pituitary was also normal (Mitchell and Goltman, 1940) and there was no sign of a pluriglandular deficiency (Atkins, 1954). Microsplanchnia in progeria is similar to the findings here, but arteriosclerosis seems much more severe than in the present case, so that in the original necropsy of progeria (Gilford, 1897) the coronary arteries were concluded at 18 years of age.…”

Section: Pathologicalmentioning

confidence: 91%

Werner's Syndrome (Progeria of the Adult)

Boyd¹,

Grant²

1959

BMJ

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“…The cases described by Rand (1914), Lereboullet (1917, Farran-Ridge (1921), Paterson (1922), Talbot (1923), Harris (1927), Apert and Robin (1927), Apert (1933), Stoia and Andreoiu (1928), Halle and Odinet (1932, Pouzin-Ma1egue andBarraud (1932, 1934), Martinez (1935), Heuyer, Denoyelle, andBernard (1936), Stern and Lieberman (1937), Schachter-Nancy (1938( ), Sundblad (1938, Korsgaard (1940), MullerHess (1940), Gottron (1940, Schondel (1942-second case), Nery (1944), Moehlig (1946) Gilford (1902, 1904a, 1904b, 1911a, 1911b, 1913) has discussed the subject of progeria at length and it has been reviewed by Apert and Robin (1927), Curtin and Kotzen (1929), Atkinson (1937), Schachter-Nancy (1938), Mitchell and Goltman (1940), Schondel (1943), Gorter (1942), and Wiedemann (1948 The thorax was pyriform in shape, the narrowed inlet being associated with very short clavicles. Prominence of the ribs and absence of subcutaneous fat were marked.…”

Section: W S Gilbert (1869)mentioning

confidence: 99%

“…Waldorp and del Castillo (1928) had previously suggested the term gero-dystrophic infantilism for atypical cases. Gilford (1902Gilford ( , 1904aGilford ( , 1904bGilford ( , 1911aGilford ( , 1911bGilford ( , 1913 has discussed the subject of progeria at length and it has been reviewed by Apert and Robin (1927), Curtin and Kotzen (1929), Atkinson (1937), Schachter-Nancy (1938), Mitchell and Goltman (1940), Schondel (1943), Gorter (1942), and Wiedemann (1948 (Figs. 3 and 4).…”

mentioning

confidence: 99%