1/7. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.- - - - - - - - - - ranking = 1keywords = rickets (Clic here for more details about this article) |
2/7. Linear sebaceous naevus syndrome and resistant rickets.The association between vitamin-D-resistant rickets and linear sebaceous naevus syndrome is extremely rare. Only eight cases have been described in the English literature and in none were the skeletal aspects addressed. We present three new cases and describe the musculoskeletal features. The details and outcome of surgery for correction of the deformities are discussed. The disturbances of metabolism of vitamin d and the effects of pharmacological treatment are also described.- - - - - - - - - - ranking = 0.62540247898003keywords = rickets, vitamin (Clic here for more details about this article) |
3/7. Epidermal nevus syndrome associated with adnexal tumors, spitz nevus, and hypophosphatemic vitamin d-resistant rickets.The epidermal nevus syndrome is the association of epidermal nevi with abnormalities in other organ systems, most commonly the central nervous system, the skeletal system, and the eyes. We present a patient with epidermal nevus syndrome associated with hypophosphatemic vitamin d-resistant rickets and multiple adnexal and spindle cell tumors.- - - - - - - - - - ranking = 3.7512024216229keywords = hypophosphatemic, rickets, vitamin (Clic here for more details about this article) |
4/7. Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus.The association of hypophosphatemic rickets and epidermal nevus or giant hairy nevus is rare. We report two patients with hypophosphatemic rickets, one associated with epidermal nevus syndrome and the other with giant hairy nevus, and describe their clinical features and variable response to treatment. The abnormal nevus tissue may have contributed to the pathogenesis of hypophosphatemic rickets. We did not find a PHEX gene mutation in these two patients, and the mechanism for their rickets may be different from that in X-linked hypophosphatemic rickets.- - - - - - - - - - ranking = 3.6251569793383keywords = hypophosphatemic, rickets (Clic here for more details about this article) |
5/7. Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?Epidermal nevus syndrome (ENS) is a rare, sporadic, congenital disorder of unknown etiology featuring a complex and highly variable phenotype that can include focal or generalized skeletal disease. We describe a young man with ENS manifesting right-sided linear skin lesions, generalized weakness, diffuse osteopenia associated with hypophosphatemic rickets, and distinctive focal bone lesions ipsilateral to the skin findings. review of the literature concerning ENS-associated skeletal disease suggested such focal bone defects are fibrous dysplasia, but our patient did not have the typical radiographic or histopathologic findings of fibrous dysplasia. Nevertheless, his circulating fibroblast growth factor 23 (FGF-23) level was elevated, likely functioning as a "phosphatonin," yet no activating mutations in GNAS previously reported in fibrous dysplasia or McCune-Albright syndrome were detected in his leukocytes or affected skin. We postulate that the focal skeletal disease, although different than fibrous dysplasia, may be a source of FGF-23 in ENS.- - - - - - - - - - ranking = 0.75003924483457keywords = hypophosphatemic, rickets (Clic here for more details about this article) |
6/7. Feuerstein and Mims syndrome with resistant rickets.A case of Feuerstein-Mims syndrome (naevus sebaceous, convulsions and mental retardation) is described in association with vitamin d resistant reckets.- - - - - - - - - - ranking = 0.50020123949001keywords = rickets, vitamin (Clic here for more details about this article) |
7/7. Hypophosphatemic vitamin d-resistant rickets, precocious puberty, and the epidermal nevus syndrome.BACKGROUND: The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature, body symmetry, and skin. Rarely, vitamin d-resistant rickets has been observed in association with this syndrome. Precocious puberty is another rare finding associated with epidermal nevus syndrome, having been observed in 3 patients. observation: A female infant with an extensive epidermal nevus, hypophosphatemia, and precocious puberty is described. Despite medical therapy, the patient's phosphate levels continued to be very low (0.87-0.97 mmol/L), establishing the diagnosis of hypophosphatemic vitamin d-resistant rickets. At 21 months of age, areas of the nevus were excised. Laboratory values obtained shortly after the operation showed a significant, but transient, improvement in the serum phosphate level. After a second excision, maintenance of her serum phosphate level in the range of 1.29 to 1.61 mmol/L was possible. CONCLUSIONS: There is evidence that epidermal nevi produce a potent phosphaturic factor. We hypothesize that limited excision debulked the nevus sufficiently to allow medical management of the hypophosphatemia. Surgical intervention should be considered for patients affected with vitamin d-resistant rickets with epidermal nevi. The cause of the precocious puberty is unknown. It may be hypothesized that the nevus released a factor that induced puberty.- - - - - - - - - - ranking = 1.5014479212647keywords = hypophosphatemic, rickets, vitamin (Clic here for more details about this article) |