Skeletal abnormalities of acrogeria, a progeroid syndrome

Abstract

We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

Review of Two Siblings with Werner's Syndrome: A Case Report

“…Familial cases are also seen. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder [10]. Rothmund-Thomson syndrome is a hereditary and familial disease characterized by short stature, cataracts, pigmentation of skin, baldness, abnormalities of bones, nails, and teeth.…”

Gottron's acrogeria and sarcoidosis

“…From the history our patient might be identical with the one described by Butenandt et al [8] in 1975, but neither he nor his family can remember being told of the diagnosis, and the records have been destroyed. According to the literature, acrogeria is known to occur in Europe [2-18, 20, 22-26, 28-34], North [19] and South America [1], and Japan [21,27,35] and affects females three times more frequently than males. The cutaneous changes are in most cases evident at the time of birth or are noticed at least during early childhood.…”

“…Due to the missing subcutaneous fat 389 in the face and the thin, sharp nose the affected persons look older than they are. Mottled hyperpigmentation of the skin is found in one-third of the patients [7,9,11,14,15,17,18,19,20,24,25,31,33]. About 30% complain of increased bruising, which may be due to increased vulnerability of the vessels caused by the missing protection of the subcutis.…”

“…The bone structure of six patients was described as osteoporotic [5,8,11,12,14,17]. Two other cases presented with acroosteolysis [9,19]. Hypermobile joints in two patients suggested generalized impairment in collagen metabolism [5,35].…”

The premature ageing syndromes: insights into the ageing process

“…Affected individuals show several characteristics of accelerated ageing (Figure 1), exhibiting severe growth retardation in infancy, associated baldness, loss of subcutaneous tissue, eyebrows and eyelashes [15]. Skeletal abnormalities, including diffuse osteoporosis and resorption of distal phalanges are marked and sometimes predominate [16]. Intelligence is unaffected and most deaths are due to the consequences of severe atherosclerosis, particularly myocardial infarction and heart failure, which occurs in the early teenage years.…”