Pseudoxanthoma Elasticum: An Underdiagnosed Genetically Heterogeneous Disorder with Protean Manifestations

Lawrence K. Altman, Philip J. Fialkow, Frank Parker, Richard W. Sagebiel

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Nine probands with pseudoxanthoma elasticum (PXE) and 65 of their relatives underwent clinical and histological investigation. Seven previously unrecognized cases were found through family studies. In addition to previously reported manifestations, massive uterine bleeding and hypothyroidism were noted. Three patients with gastrointestinal tract bleeding had predisposing lesions; possibly arterial abnormalities predispose to hemorrhage from gastrointestinal lesions. Dominant inheritance could not be documented, but autosomal recessive transmission could have occurred in four families. Findings in three families suggest that subjects heterozygous for a PXE gene may have increased susceptibility to gastrointestinal tract, degenerative vascular, and ocular disorders. The mode of transmission in the fifth family does not fit either a dominant or a recessive pattern. Firm evidence for genetic heterogeneity in PXE was not found but was adduced from the pattern of inheritance in this family.

Original languageEnglish (US)
Pages (from-to)1048-1054
Number of pages7
JournalArchives of Internal Medicine
Volume134
Issue number6
DOIs
StatePublished - 1974
Externally publishedYes

Fingerprint

Pseudoxanthoma Elasticum
Gastrointestinal Tract
Inheritance Patterns
Gastrointestinal Hemorrhage
Genetic Heterogeneity
Uterine Hemorrhage
Hypothyroidism
Blood Vessels
Hemorrhage
Genes

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Pseudoxanthoma Elasticum : An Underdiagnosed Genetically Heterogeneous Disorder with Protean Manifestations. / Altman, Lawrence K.; Fialkow, Philip J.; Parker, Frank; Sagebiel, Richard W.

In: Archives of Internal Medicine, Vol. 134, No. 6, 1974, p. 1048-1054.

Research output: Contribution to journalArticle

Altman, Lawrence K. ; Fialkow, Philip J. ; Parker, Frank ; Sagebiel, Richard W. / Pseudoxanthoma Elasticum : An Underdiagnosed Genetically Heterogeneous Disorder with Protean Manifestations. In: Archives of Internal Medicine. 1974 ; Vol. 134, No. 6. pp. 1048-1054.
@article{49a8fe261bc740e384e72183ddd72c1f,
title = "Pseudoxanthoma Elasticum: An Underdiagnosed Genetically Heterogeneous Disorder with Protean Manifestations",
abstract = "Nine probands with pseudoxanthoma elasticum (PXE) and 65 of their relatives underwent clinical and histological investigation. Seven previously unrecognized cases were found through family studies. In addition to previously reported manifestations, massive uterine bleeding and hypothyroidism were noted. Three patients with gastrointestinal tract bleeding had predisposing lesions; possibly arterial abnormalities predispose to hemorrhage from gastrointestinal lesions. Dominant inheritance could not be documented, but autosomal recessive transmission could have occurred in four families. Findings in three families suggest that subjects heterozygous for a PXE gene may have increased susceptibility to gastrointestinal tract, degenerative vascular, and ocular disorders. The mode of transmission in the fifth family does not fit either a dominant or a recessive pattern. Firm evidence for genetic heterogeneity in PXE was not found but was adduced from the pattern of inheritance in this family.",
author = "Altman, {Lawrence K.} and Fialkow, {Philip J.} and Frank Parker and Sagebiel, {Richard W.}",
year = "1974",
doi = "10.1001/archinte.1974.00320240082009",
language = "English (US)",
volume = "134",
pages = "1048--1054",
journal = "JAMA Internal Medicine",
issn = "2168-6106",
publisher = "American Medical Association",
number = "6",

}

TY - JOUR

T1 - Pseudoxanthoma Elasticum

T2 - An Underdiagnosed Genetically Heterogeneous Disorder with Protean Manifestations

AU - Altman, Lawrence K.

AU - Fialkow, Philip J.

AU - Parker, Frank

AU - Sagebiel, Richard W.

PY - 1974

Y1 - 1974

N2 - Nine probands with pseudoxanthoma elasticum (PXE) and 65 of their relatives underwent clinical and histological investigation. Seven previously unrecognized cases were found through family studies. In addition to previously reported manifestations, massive uterine bleeding and hypothyroidism were noted. Three patients with gastrointestinal tract bleeding had predisposing lesions; possibly arterial abnormalities predispose to hemorrhage from gastrointestinal lesions. Dominant inheritance could not be documented, but autosomal recessive transmission could have occurred in four families. Findings in three families suggest that subjects heterozygous for a PXE gene may have increased susceptibility to gastrointestinal tract, degenerative vascular, and ocular disorders. The mode of transmission in the fifth family does not fit either a dominant or a recessive pattern. Firm evidence for genetic heterogeneity in PXE was not found but was adduced from the pattern of inheritance in this family.

AB - Nine probands with pseudoxanthoma elasticum (PXE) and 65 of their relatives underwent clinical and histological investigation. Seven previously unrecognized cases were found through family studies. In addition to previously reported manifestations, massive uterine bleeding and hypothyroidism were noted. Three patients with gastrointestinal tract bleeding had predisposing lesions; possibly arterial abnormalities predispose to hemorrhage from gastrointestinal lesions. Dominant inheritance could not be documented, but autosomal recessive transmission could have occurred in four families. Findings in three families suggest that subjects heterozygous for a PXE gene may have increased susceptibility to gastrointestinal tract, degenerative vascular, and ocular disorders. The mode of transmission in the fifth family does not fit either a dominant or a recessive pattern. Firm evidence for genetic heterogeneity in PXE was not found but was adduced from the pattern of inheritance in this family.

UR - http://www.scopus.com/inward/record.url?scp=0016363435&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0016363435&partnerID=8YFLogxK

U2 - 10.1001/archinte.1974.00320240082009

DO - 10.1001/archinte.1974.00320240082009

M3 - Article

C2 - 4433185

AN - SCOPUS:0016363435

VL - 134

SP - 1048

EP - 1054

JO - JAMA Internal Medicine

JF - JAMA Internal Medicine

SN - 2168-6106

IS - 6

ER -