Richner-Hanhart syndrome (tyrosinemia II): Early diagnosis of an incomplete presentation with unusual findings

Pediatric Dermatology

Volumn 23, Issue 3, 2006, Pages 259-261

  Viglizzo, Gian Maria ^b   Occella, Corrado ^b   Bleidl, Dario ^b   Rongioletti, Franco ^a,c  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c Clinica Dermatologica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EMOLLIENT AGENT; PHENYLALANINE; STEROID; TYROSINE;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIET RESTRICTION; DISEASE CONTROL; FEMALE; FINGER TIP INJURY; HUMAN; INTELLIGENCE; KERATOSIS PALMOPLANTARIS; LABORATORY TEST; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RICHNER HANHART SYNDROME; TEAR FLOW; TYROSINEMIA;

CHILD, PRESCHOOL; FEMALE; HUMANS; KERATODERMA, PALMOPLANTAR; TYROSINEMIAS;

EID: 33745088035     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2006.00230.x     Document Type: Article

References (12)

1. Podglajen-Wecxsteen O Delaporte E Piette F et al. Oculocutaneous type II tyrosinosis. Ann Derm Venereol 1993 120: 139 142.
2. Richner H. Hornhautaffektion bei keratoderma palmar et plantare hereditariu. Klin Monastsbl Augenheilkd 1938 100: 580 588.
3. Hanhart E. Neue sonderformen von keratosis palmoplantaris, u. a. eine regelmabig-dominant mit systmatisirten lipomen, ferner 2 eihfach-rezessive mit schwachsinn und Z.T. Horautver und erungen des auges (ektodermal syndrome). Dermatologica 1947 94: 286 308.
4. Natt E Kao FT Rettenmeier R Scherer G. Assignment of the human tyrosine amino transferase gene to chromosome 16. Hum Genet 1986 72: 225 228.
5. Crovato F Desirello G Gatti R et al. Richner-Hanhart syndrome spares a plantar autograft. Arch Dermatol 1985 121: 539 540.
6. Saijo S Kudoh K Kuramoto Y et al. Tyrosinemia II: report of an incomplete case and studies on the hyperheratotic stratum corneum. Dermatol 1991 182: 168 171.
7. Beard ME Burns RP Rich LFR et al. Histopathology of keratinopathy in tyrosine-fed rats. Invest Opthalmol 1974 13: 1034.
8. Gipson IK Burns RP Wolfe-Lande JD. Crystals in corneal epithelial lesions of tyrosine-fed rats. Invest Ophthalmol 1975 14: 937 941.
9. Schimizu N Ito N Ito K et al. Richner-Hanhart's syndrome: electron microscopic study of the skin lesion. Arch Dermatol 1990 126: 1342 1346.
10. Bohnertyh A Anton-Lambrecht J. Richner-Hanhart syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine level. J Invest Dermatol 1982 79: 68 74.
11. Tallab TM. Richner-Hanhart syndrome: importance of early diagnosis and early intervention. J Am Acad Dermatol 1996 35: 857 859.
12. Fraser NG Macdonald J Griffin WA et al. Tyrosinemia type II (Richner-Hanhart syndrome): report of two cases treated with etretinate. Clin Exp Dermatol 1987 12: 440 443.