Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation.

Abstract

Tyrosinaemia type II (oculocutaneous tyrosinaemia or Richner-Hanhart syndrome) is a rare and potentially treatable genetic disorder. Corneal opacities or ulcers, circumscribed palmoplantar keratoderma and subnormal intelligence form the classical triad of this syndrome. A case with additional features of self-harm and diffuse plantar keratoderma is discussed. Emphasis is laid on the importance of early diagnosis and intervention in the form of dietary regulation to prevent the neurological signs and treat the oculocutaneous symptoms.

Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification

“…H and E, ×200) b a infiltrate composed of monocytoid or histiocytoid cells positively stained with CD15, CD43, CD45, CD68, MAC-386, HAM56, myeloperoxidase, and lysozyme, which correspond with immature neutrophils. [4][5][6][7][8][9][10][11] A 66-year-old male with an IgG lambda myeloma that progressed despite autologous peripheral blood stem cell transplantation was being treated with bortezomib (1.3 mg/m 2 ) and melphalan (9 mg/m 2 ) according to VISTA protocol (Velcade as Initial Standard Therapy in Multiple Myeloma). [1] Several skin lesions associated with bortezomib have been described as skin rash which show histopathological findings of lymphocytic infiltrates, interphase dermatitis, [2] vasculitis, [3] and different neutrophilic diseases.…”

Acute administration of l‐tyrosine alters energetic metabolism of hippocampus and striatum of infant rats

“…The symptoms in postnatal period which appear in tyrosinemic patients are presented during critical stages of central nervous system (CNS) development and characterized by high levels of tyrosine (Sgaravatti et al, 2008). Therefore, some patients are developmentally normal, while others show different degrees of neuronal developmental retardation (Chakrapani and Holme, 2006; Madan and Gupta, 2006; Paige et al, 1992; Pasternack et al, 2009; Valikhani et al, 2006).…”

Maladies métaboliques héréditaires

“…12 Dysmorphie faciale au cours d'une maladie de Menkès paraissent qu'après le sevrage de l'allaitement maternel. Le diagnostic repose sur l'abaissement du taux plasmatique de zinc.…”