Literature DB >> 16514229

Richner Hanhart syndrome.

Lalitha Janakiraman1, Malathi Sathiyasekaran, Munirathiram Deenadayalan, Ramaswamy Ganesh, Uma Mahesh.   

Abstract

Richner Hanhart syndrome is a rare inherited disorder involving the metabolism of tyrosine, a semi-essential amino acid and it should be considered in the differential diagnosis of a child presenting with ocular and skin lesions. We report a case of Richner Hanhart syndrome in a 19-month-old child, who presented with ocular and skin lesions.

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Year:  2006        PMID： 16514229     DOI： 10.1007/BF02820213

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  6 in total

1.  New special forms of keratosis palmo-plantaris, u. a., a regularly g-dominant with systematized lipomas, furthermore 2 simple-recessive with idiocy and z. T. with corneal changes in the eye (ectodermal syndrome).

Authors:  E HANHART
Journal:  Dermatologica       Date:  1947

2.  Richner-Hanhart syndrome: importance of early diagnosis and early intervention.

Authors:  T M Tallab
Journal:  J Am Acad Dermatol       Date:  1996-11       Impact factor: 11.527

3.  Richner-Hanhart syndrome spares a plantar autograft.

Authors:  F Crovato; G Desirello; R Gatti; N Babbini; A Rebora
Journal:  Arch Dermatol       Date:  1985-04

Review 4.  Tyrosinemia II: lessons in molecular pathophysiology.

Authors:  L A Goldsmith
Journal:  Pediatr Dermatol       Date:  1983-07       Impact factor: 1.588

5.  Successful dietary control of tyrosinemia II.

Authors:  H Machino; Y Miki; T Kawatsu; K Kida; H Matsuda
Journal:  J Am Acad Dermatol       Date:  1983-10       Impact factor: 11.527

Review 6.  Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.

Authors:  L G Rabinowitz; L R Williams; C E Anderson; A Mazur; P Kaplan
Journal:  J Pediatr       Date:  1995-02       Impact factor: 4.406
  6 in total

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