| Familial cutaneous amyloidosis with systemic manifestations in males. | |
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MedLine Citation:
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PMID: 6794369 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked. |
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Authors:
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M W Partington; P J Marriott; R S Prentice; A Cavaglia; N E Simpson |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 10 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1981 |
Date Detail:
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Created Date: 1981-12-15 Completed Date: 1981-12-15 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 65-75 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Amyloidosis / complications, genetics* Child, Preschool Chromosome Aberrations / genetics* Chromosome Banding Chromosome Disorders Chronic Disease Colitis / complications, genetics* Female Heterozygote Humans Male Middle Aged Pneumonia / complications, genetics* Protein-Energy Malnutrition / complications Skin Pigmentation |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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