Literature DB >> 3115288

Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.

A Spallone1.   

Abstract

Seven members from a large family who showed signs of incontinentia pigmenti were examined. A clear X-linked dominant transmission was demonstrated, lethal in males. Study of this family shows that vascular abnormalities of the retina and disorders of the retinal pigment epithelium are the most important ocular lesions in the Bloch-Sulzberger syndrome.

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Year:  1987        PMID： 3115288      PMCID： PMC1041246          DOI： 10.1136/bjo.71.8.629

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  8 in total

1.  Incontinentia pigmenti (Bloch-Sulzberger) associated with proliferative eyeground changes and positive toxoplasmosis reaction.

Authors:  V A JENSEN
Journal:  Acta Psychiatr Neurol Scand Suppl       Date:  1956

2.  [On incontinentia pigmenti and differentiation of two syndromes appearing under the same name].

Authors:  A FRANCESCHETTI; W JADASSOHN
Journal:  Dermatologica       Date:  1954-01

3.  Conjunctival and retinal incontinentia pigmenti.

Authors:  J A McCrary; J L Smith
Journal:  Arch Ophthalmol       Date:  1968-04

4.  Incontinentia pigmenti, pheochromocytoma, and ocular abnormalities.

Authors:  F I Fischbein; M Schub; W S Lesko
Journal:  Am J Ophthalmol       Date:  1972-06       Impact factor: 5.258

5.  Ocular findings in incontinentia pigmenti.

Authors:  S I Rosenfeld; M E Smith
Journal:  Ophthalmology       Date:  1985-04       Impact factor: 12.079

6.  Incontinentia pigmenti. A world statistical analysis.

Authors:  R G Carney
Journal:  Arch Dermatol       Date:  1976-04

7.  Retinal pigment epithelium in incontinentia pigmenti.

Authors:  O Mensheha-Manhart; M M Rodrigues; J A Shields; G M Shannon; R P Mirabelli
Journal:  Am J Ophthalmol       Date:  1975-04       Impact factor: 5.258

8.  Ocular lesions in incontinentia pigmenti.

Authors:  E L Raab
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1983 Mar-Apr       Impact factor: 1.402
  8 in total
  5 in total

1.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

Review 2.  Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Authors:  S J Landy; D Donnai
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

3.  Novel corneal features in two males with incontinentia pigmenti.

Authors:  E J Mayer; G N Shuttleworth; K L Greenhalgh; J E Sansom; R H B Grey; S Kenwrick
Journal:  Br J Ophthalmol       Date:  2003-05       Impact factor: 4.638

4.  The blinding mechanisms of incontinentia pigmenti.

Authors:  M F Goldberg
Journal:  Trans Am Ophthalmol Soc       Date:  1994

Review 5.  Cutaneous mosaicism: Special considerations for women.

Authors:  Katharine T Ellis; Diana Ovejero; Keith A Choate
Journal:  Int J Womens Dermatol       Date:  2021-10-27
  5 in total

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