Liver Cirrhosis From Chronic Hypervitaminosis A Resulting in Liver Transplantation: A Case Report.

Herein we report a case of liver dysfunction caused by consumption of vitamin A supplements leading to liver transplantation. The patient was a 48-year-old male with a medical history of congenital ichthyosiform erythroderma in treatment with vitamin A until 12 years of age, at which point he discontinued the supplements because he had developed ascites. Liver cirrhosis was diagnosed as secondary to hypervitaminosis A on the basis of histologic examination of liver biopsy and the absence of other potential causes of chronic liver disease. Despite interruption of administration of vitamin A, the patient continued to deteriorate over the years, with development of portal hypertension signs. His medical conditions were aggravated with the development of hepatic insufficiency manifested by refractory ascites, renal insufficiency, and severe encephalopathy and he underwent orthotopic liver transplantation, followed by disappearance of all signs of portal hypertension. This case highlights the need to take a careful history of consumption of vitamin A when evaluating a patient with liver failure.

[Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome]. / Rachitisme carentiel compliquant une maladie de Chanarin-Dorfman.

Vitamin D deficiency rickets remains a public health issue in many parts of the world. In France, this diagnosis has almost disappeared since 1992 with routine vitamin D supplementation for children. Therefore, it is more difficult for doctors to identify risk factors and early signs of this disease. In this article, we report a rickets diagnosis acquired by vitamin D deficiency in a child who presented with the onset of a genu valgum and difficulty walking at the age of 9½ years. This patient was a Comorian child followed up from his birth for Dorfman-Chanarin syndrome. Dorfman-Chanarin syndrome is a rare disease, with about 80 cases reported in the literature. It belongs to the group of neutral lipid storage diseases (NLSD) characterized especially on the skin by ichthyosis. This child presented risk factors for vitamin D deficiency (dark skin color, prolonged and exclusive breastfeeding, premature end of supplementation, and particularly severe ichthyosis) that should have alerted us to the risk of vitamin D deficiency and the need for supplementation. This case highlights the importance of vitamin D, especially if there are risk factors such as ichthyosis, and the need to remain watchful in monitoring all chronic diseases.

Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin.

BACKGROUND: Ichthyosiform erythroderma due to keratinizing disorders may suppress cutaneous vitamin D synthesis, leading to vitamin D deficiency and rickets. OBJECTIVES: To determine the prevalence of vitamin D deficiency and rickets in children and adolescents with congenital ichthyosis and other keratinizing disorders with erythroderma and scaling. PATIENTS AND METHODS: In this cross-sectional study, 45 children and adolescents with ichthyosiform erythroderma due to keratinizing disorders, and 66 controls (group 1: age and sex matched, with skin diseases other than keratinizing disorders; group 2: age and sex matched, healthy volunteers) were included. Evidence of rickets was determined clinically (physical examination and radiographs) and biochemically {serum calcium, phosphorus, alkaline phosphatase, 25-hydroxy vitamin D [25(OH)D] and parathyroid hormone (PTH)}. RESULTS: All patients in the disease group had clinical, radiological or biochemical evidence of rickets [25(OH)D<20ngmL(-1) ], and analysis was done for all subjects with the available biochemical reports. The mean serum 25(OH)D levels of the disease group was 8·38±5·23ngmL(-1) and was significantly lower than in control group 1 (11·1±5·8ngmL(-1) ) (P<0·01) and control group 2 (13·5±6·9ngmL(-1) ) (P<0·001). The prevalence of vitamin D deficiency [25(OH)D<20ngmL(-1) ] was significantly higher in the disease group (n=38 of 39, 97·4%) than in control group 2 (n=12, 70·6%) (P<0·01), and total controls (n=56, 84·8%) (P=0·04). The frequency of hyperparathyroidism (PTH>65pgmL(-1) ) was also significantly higher in the disease group than in controls (P<0·01). CONCLUSIONS: Children and adolescents with various forms of ichthyosiform erythroderma, especially those with pigmented skin (types IV-VI), are at increased risk of developing vitamin D deficiency and clinical rickets.