1/3. Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes.Classic lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disease caused by mutations in the transglutaminase 1 gene. Pseudoainhum is characterized by the appearance of a constricting band around a digit which may lead to spontaneous amputation. We describe a 41-year-old man with classic lamellar ichthyosis with unusual eye changes and pseudoainhum of both the fifth and the third right toes. eye abnormalities included bilateral ectropion of the lower eyelids, chronic blepharitis, and nuclear cataract. A radiometric assay revealed greatly reduced skin transglutaminase activity. To the best of our knowledge, this report is unique as classic lamellar ichthyosis with deficient transglutaminase activity has never been associated with pseudoainhum of the toes and the early development of nuclear cataract.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
2/3. Nutritional rickets in ichthyosis and response to calcipotriene.Nutritional rickets has occasionally been described in children with lamellar ichthyosis, but their vitamin D endocrine status has not been described. We report 3 cases of vitamin D-deficiency rickets associated with ichthyosis in African children. A 13-month-old Nigerian boy with lamellar ichthyosis had rib beading, elevated alkaline phosphatase, and rachitic changes on radiographs. His rickets did not resolve with calcium therapy, and his 25-hydroxyvitamin D level was low. His rickets resolved with parenteral vitamin D treatment, but his skin did not improve. Topical 0.005% calcipotriene (an analog of 1,25-dihydroxyvitamin D that has been useful in treating adults with psoriasis) was similarly ineffective in improving the child's skin condition. An 8-year-old Nigerian boy with life-long skin findings consistent with lamellar ichthyosis had windswept deformity of the legs with rib beading and enlargement of the wrists and ankles. Radiographs showed active rickets, and the boy had an elevated alkaline phosphatase level and a decreased calcium level. Before knowing that his 25-hydroxyvitamin D level was low, he was treated with calcium and showed radiologic improvement. The skin did not improve with resolution of the rickets but did improve with unilateral topical application of 0.005% calcipotriene. A 7-year-old South African girl presented with progressive windswept deformities of the legs and a 4-year history of skin disease (and a skin biopsy consistent with X-linked ichthyosis). Radiographs and biochemical data confirmed active rickets. Her rickets improved dramatically with vitamin D treatment. Thus, 3 African children with ichthyosis developed vitamin D-deficiency rickets, probably because of a combination of impaired skin production and sunlight avoidance. This is consistent with previous findings of hypovitaminosis D in adults with ichthyosis and other disorders of keratinization. Measurement of 25-hydroxyvitamin D may be indicated in children with ichthyosis to identify those at risk for vitamin D-deficiency rickets, because it is possible that the cutaneous synthesis of vitamin D in such children is impaired. Although the ichthyosis did not improve with resolution of vitamin d deficiency and rickets, 1 of 2 children treated with topical calcipotriene showed improvement in the treated areas of skin. Calcipotriene does not seem to be effective in reversing systemic vitamin d deficiency but can be effective in improving the severity of skin disease in children with ichthyosis.- - - - - - - - - - ranking = 2keywords = skin disease (Clic here for more details about this article) |
3/3. Salicylate intoxication using a skin ointment.Acute percutaneous salicylate intoxication is a rare event in children but can happen with a skin disease where salicylic acid, used as a keratolytic ointment, can be absorbed transcutaneously. Until now, few cases of transcutaneous salicylate intoxication have been reported in the literature. Our case report is about a 5-year-old girl with lamellar ichthyosis and an acute salicylate transcutaneous intoxication after the application of a skin ointment. The child had a fever, hyperpnoea with respiratory alkalosis, comatose state and oculogyric crisis. We would like to emphasize the danger of applying salicylic acid in children with extensive skin diseases and, therefore, it is advisable to measure the plasma salicylic levels so as to prevent eventual salicylate toxicity.- - - - - - - - - - ranking = 2keywords = skin disease (Clic here for more details about this article) |