Document Detail

Familial cutaneous amyloidosis with systemic manifestations in males.
MedLine Citation:
PMID:  6794369     Owner:  NLM     Status:  MEDLINE    
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.
M W Partington; P J Marriott; R S Prentice; A Cavaglia; N E Simpson
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  10     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1981  
Date Detail:
Created Date:  1981-12-15     Completed Date:  1981-12-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  65-75     Citation Subset:  IM    
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MeSH Terms
Amyloidosis / complications,  genetics*
Child, Preschool
Chromosome Aberrations / genetics*
Chromosome Banding
Chromosome Disorders
Chronic Disease
Colitis / complications,  genetics*
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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