1.
High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA).
Ann Rheum Dis
; 77(8): 1241-1243, 2018 08.
Article
in English
| MEDLINE
| ID: mdl-28866646
2.
Pediatr Dermatol
; 23(3): 259-61, 2006.
Article
in English
| MEDLINE
| ID: mdl-16780475
ABSTRACT
We report a 2-year-old girl with an incomplete form of Richner-Hanhart syndrome (tyrosinemia II) whose presenting sign was the appearance of vesicles on the fingertips. In a few months these lesions evolved into typical hyperkeratotic plaques also involving the palms and soles. Photophobia and frequent tearing were observed but there was no intelligence impairment. Serum and urine tyrosine levels confirmed the diagnosis. A low tyrosine and phenylalanine diet permitted good control of the disease with a complete resolution of the oculo-cutaneous symptoms in a month. We emphasize the importance of an early diagnosis of this syndrome to avoid the risk of mental retardation.