Scar and Keloidlike Lesions in Progeria

Jimbow, Kowichi; Kobayashi, Hiromi; Ishii, Masamitsu; Oyanagi, Akira; Ooshima, Akira

doi:10.1001/archderm.1988.01670080073023

Cited by 26 publications

(3 citation statements)

References 30 publications

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“…Later on, similar hyperpigmentations can be seen on the scalp and limbs. A single patient showed numerous hyperplastic scars or keloid‐like lesions on the dorsum of hands and feet and elsewhere on the upper limbs [Jimbow et al, 1988].…”

Section: Skinmentioning

confidence: 99%

“…Some do have recurrent airway infections however, and this also occurs in the terminal phase of the disorder when cardiac failure may play a role. Immunological studies gave either normal results [Jimbow et al, 1988] or showed a hypogammaglobulinaemia and disturbances in cell proliferation upon stimulation with various mitogens [Harjacek et al, 1990].…”

Section: Other Abnormalitiesmentioning

confidence: 99%

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Hutchinson–Gilford progeria syndrome: Review of the phenotype

Hennekam

2006

American J of Med Genetics Pt A

491

490

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Hutchinson–Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise. Cognitive development is normal. Data on 10 of our own cases and 132 cases from literature are presented. The incidence in the last century in the Netherlands was 1:4,000,000. Sex ratio was 1.2:1. Main first symptoms were failure to thrive (55%), hair loss (40%), skin problems (28%), and lipodystrophy (20%). Mean age at diagnosis was 2.9 years. Growth in weight was more disturbed than growth in height, and growth delay started already prenatally. Mean height > 13 years was 109.0 cm, mean weight was 14.5 kg. Osteolysis was wide‐spread but not expressed, except in the viscerocranium, and remained limited to membranous formed bone. Lipodystrophy is generalized, only intra‐abdominal fat depositions remain present. Cardiovascular problems are extremely variable, both in age of onset and nature. Stroke and coronary dysfunctioning are most frequent. Pathologic findings in coronaries and aorta resemble sometimes the findings in elderly persons, but can also be much more limited. Loss of smooth muscle cells seems the most important finding. Mean age of demise was 12.6 years. Patients can be subdivided in patients with classical HGPS, which follows an autosomal dominant pattern of inheritance, (almost) all cases representing spontaneous mutations, and in non‐classical progeria, in whom growth can be less retarded, scalp hair remains present for a longer time, lipodystrophy is more slowly progressive, osteolysis is more expressed except in the face, and survival well into adulthood is not uncommon. Pattern of inheritance of non‐classical progeria is most probably autosomal recessive. The cause of HGPS is an abnormally formed Lamin A, either directly by a mutated LMNA gene, or through abnormal posttranslational processing (ZMPSTE24 gene mutations). Of 34 LMNA mutations found in progeria patients, there were 26 classical p.G608G mutations (76%). Pathogenesis is most likely to follow several different pathways. Potential therapeutic strategies are developed along these lines and include RNA interference techniques and inhibition of the dominant‐negative influence of abnormally formed Lamin A on polymerization with normally formed Lamin A. © 2006 Wiley‐Liss, Inc.

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Section: Skinmentioning

confidence: 99%

Section: Other Abnormalitiesmentioning

confidence: 99%

Hutchinson–Gilford progeria syndrome: Review of the phenotype

Hennekam

2006

American J of Med Genetics Pt A

491

490

View full text Add to dashboard Cite

show abstract

“…However, in some patients [6,7,27], the keloid-like lesions are the only alteration observed, and in the case described in this issue [35] there were no clinical, laboratory or histological indications of associated scleroderma. Likewise, lesions of this type have been observed at injection sites [32] and in patients with progeria [37]. All this suggests that keloidal scleroderma is an excessive fibrosing reaction that typically arises in the course of scleroderma but is by no means exclusive to it.…”

mentioning

confidence: 99%