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

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. © 2006 The Authors

Cutaneous mucinosis of infancy: a rare case of joint involvement

Background: Primary cutaneous mucinosis are a heterogeneous group of diseases characterized by the deposition of glycosaminoglycans in the dermis and the follicles. These diseases are rare in children therefore their diagnosis and management are still challenging. Joint involvement has been reported in patients with secondary cutaneous mucinosis and, rarely, in primary mucinosis. We describe a case of Cutaneous Mucinosis of Infancy with joint involvement. Case presentation: An healthy 5-year-old boy showed acute arthritis of the left knee and left elbow confirmed by ultrasound. Laboratory tests were within normal range. Symptoms disappeared after a course of nonsteroid anti-inflammatory drugs. One year later, the knee swelling reappeared; juvenile idiopathic arthritis was diagnosed and intra-articular steroid injection was performed. Due to persistence of arthritis of the knee he was admitted to our hospital. On physical examination variable skin-colored lesions were observed, which had been in existence for over 2 years. We performed a skin biopsy that showed an interstitial mucine deposition in the reticular dermis. Cutaneous Mucinosis of Infancy was diagnosed. Discussion and conclusions: Cutaneous Mucinosis of Infancy is a persistent dermatosis with benign prognosis and no treatment is generally required. Our case report is particularly interesting because it is the first in which joint involvement has been reported in CMI, a disorder that has so far been described as limited to skin involvement. Further studies will be necessary in order to clarify the pathogenesis of joint involvement in primary mucinosis