The Experts below are selected from a list of 297 Experts worldwide ranked by ideXlab platform
Robert A Skidmore - One of the best experts on this subject based on the ideXlab platform.
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hypophosphatemic vitamin d resistant rickets precocious puberty and the Epidermal Nevus Syndrome
Archives of Dermatology, 1997Co-Authors: Rachel Ivker, Steven D Resnick, Robert A SkidmoreAbstract: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. Arch Dermatol. 1997;133:1557-1561
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Hypophosphatemic Vitamin D—Resistant Rickets, Precocious Puberty, and the Epidermal Nevus Syndrome
Archives of Dermatology, 1997Co-Authors: Rachel Ivker, Steven D Resnick, Robert A SkidmoreAbstract: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. Arch Dermatol. 1997;133:1557-1561
J. B. C. De Klerk - One of the best experts on this subject based on the ideXlab platform.
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Solomon's Epidermal Nevus Syndrome (Type: Linear Nevus Sebaceus) and Hypophosphatemic Vitamin D—Resistant Rickets
Archives of Dermatology, 1994Co-Authors: Arnold P. Oranje, H. Przyrembel, Morteza Meradji, M. C. B. Loonen, J. B. C. De KlerkAbstract:Background: Epidermal Nevus Syndrome is very variable in symptoms and associated abnormalities. Synonyms of this Syndrome are linear Nevus sebaceus Syndrome or Schimmelpenning-Feuerstein-Mims Syndrome or Solomon Syndrome. The combination with vitamin D—resistant rickets is rare and only sporadically described. Less than 10 cases with this combination of symptoms have been described in the literature. Observations: We describe a boy suffering from Epidermal Nevus Syndrome (type: Nevus sebaceus). This child also presented with severe rickets with hyperphosphaturia, resistant to vitamin D. Our patient was seen in consultation at birth, but after a delay of 4 years we were consulted again for a second opinion and treatment; the vitamin D—resistant rickets was recognized. Treatment with 1,25-dihydroxy vitamin D 3 and phosphorus resulted in healing of rickets. Removal of parts of the tumors did not influence the rickets. This is in contrast with a formerly described case. Removal of fibroangiomas led in that case to normalization of the alkaline phosphatase, calcium, and phosphate serum levels. Conclusions: The rickets results from massive phosphate excretion by defective renal tubular reabsorption of phosphate. In all patients described, rickets developed at an early age. Clinical symptoms were marked bone abnormalities, muscle weakness, and bone pain. (Arch Dermatol. 1994;130:1167-1171)
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solomon s Epidermal Nevus Syndrome type linear Nevus sebaceus and hypophosphatemic vitamin d resistant rickets
Archives of Dermatology, 1994Co-Authors: Arnold P. Oranje, H. Przyrembel, Morteza Meradji, M. C. B. Loonen, J. B. C. De KlerkAbstract:Background: Epidermal Nevus Syndrome is very variable in symptoms and associated abnormalities. Synonyms of this Syndrome are linear Nevus sebaceus Syndrome or Schimmelpenning-Feuerstein-Mims Syndrome or Solomon Syndrome. The combination with vitamin D—resistant rickets is rare and only sporadically described. Less than 10 cases with this combination of symptoms have been described in the literature. Observations: We describe a boy suffering from Epidermal Nevus Syndrome (type: Nevus sebaceus). This child also presented with severe rickets with hyperphosphaturia, resistant to vitamin D. Our patient was seen in consultation at birth, but after a delay of 4 years we were consulted again for a second opinion and treatment; the vitamin D—resistant rickets was recognized. Treatment with 1,25-dihydroxy vitamin D 3 and phosphorus resulted in healing of rickets. Removal of parts of the tumors did not influence the rickets. This is in contrast with a formerly described case. Removal of fibroangiomas led in that case to normalization of the alkaline phosphatase, calcium, and phosphate serum levels. Conclusions: The rickets results from massive phosphate excretion by defective renal tubular reabsorption of phosphate. In all patients described, rickets developed at an early age. Clinical symptoms were marked bone abnormalities, muscle weakness, and bone pain. (Arch Dermatol. 1994;130:1167-1171)
Rachel Ivker - One of the best experts on this subject based on the ideXlab platform.
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hypophosphatemic vitamin d resistant rickets precocious puberty and the Epidermal Nevus Syndrome
Archives of Dermatology, 1997Co-Authors: Rachel Ivker, Steven D Resnick, Robert A SkidmoreAbstract: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. Arch Dermatol. 1997;133:1557-1561
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Hypophosphatemic Vitamin D—Resistant Rickets, Precocious Puberty, and the Epidermal Nevus Syndrome
Archives of Dermatology, 1997Co-Authors: Rachel Ivker, Steven D Resnick, Robert A SkidmoreAbstract: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. Arch Dermatol. 1997;133:1557-1561
Ryozo Nagai - One of the best experts on this subject based on the ideXlab platform.
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renal artery stenosis associated with Epidermal Nevus Syndrome
Nephron, 2000Co-Authors: Kenichi Aizawa, Tetsuya Nakamura, Yoshio Ohyama, Yuichiro Saito, Jin Hoshino, Tsugiyasu Kanda, Hiroyuki Sumino, Ryozo NagaiAbstract:Epidermal Nevus Syndrome is an unusual neurocutaneous disorder in which Epidermal nevi are associated with abnormalities of the skeleton and central nervous system, including the eyes and somtimes the cardiovascular system. We treated a patient in whom the latter included renal artery stenosis. An 18-year-old man with Epidermal nevi was diagnosed as having the Syndrome based on the additional presence of scoliosis, an arachnoid cyst in the middle cranial fossa, and microphthalmos. Hypertension was diagnosed when the patient was 15 years old. The plasma renin activity (9.7 ng/ml/h) was elevated. Right renal artery stenosis was demonstrated by angiography, and the abdominal aorta was narrowed distal to the ostium of the superior mesenteric artery. The plasma renin activity in the right renal vein (16 ng/ml/h) was higher than contralaterally (10 ng/ml/h). Several cardiovascular manifestations have been reported as a complication of Epidermal Nevus Syndrome. Hypertension in an individual with Epidermal nevi and congenital anomalies should prompt a search for a vascular anomaly.
Mauro Paradisi - One of the best experts on this subject based on the ideXlab platform.
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systematized organoid Epidermal Nevus with eccrine differentiation multiple facial and oral congenital scars gingival synechiae and blepharophimosis a novel Epidermal Nevus Syndrome
American Journal of Medical Genetics Part A, 2010Co-Authors: Marco Castori, Giovanna Zambruno, Giorgio Annessi, Daniele Castiglia, Vitaliano Buffa, Andrea Paradisi, P Cascone, Paola Grammatico, Mauro ParadisiAbstract:Epidermal Nevus Syndrome is a clinically variable and genetically heterogeneous group of mosaic conditions characterized by the concurrence of extensive Epidermal Nevus with additional cutaneous and extracutaneous manifestations. This term groups together well-characterized clinical entities, as well as dozens of apparently unique associations, which need further delineation. We report on a 23-year-old woman presenting the previously undescribed combination of widespread eccrine proliferation, multiple facial and oral pox-like lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. The patient has a healthy monozygotic twin. The eccrine proliferation is intermingled with areas of unaffected skin with a linear/segmental distribution on the limbs. The clinical presentation of such a complex phenotype fits well with the genetic mosaicism theory. The histologic findings, consisting of proliferation of immature to well-formed eccrine duct-like structures located in the deep dermis and interspersed with an abundant fibrous stroma constituted of horizontally oriented collagen fibers, seem a possible hallmark of this condition. © 2009 Wiley-Liss, Inc.
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Systematized organoid Epidermal Nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel Epidermal Nevus Syndrome.
American journal of medical genetics. Part A, 2009Co-Authors: Marco Castori, Giovanna Zambruno, Giorgio Annessi, Daniele Castiglia, Vitaliano Buffa, Andrea Paradisi, P Cascone, Paola Grammatico, Mauro ParadisiAbstract:Epidermal Nevus Syndrome is a clinically variable and genetically heterogeneous group of mosaic conditions characterized by the concurrence of extensive Epidermal Nevus with additional cutaneous and extracutaneous manifestations. This term groups together well-characterized clinical entities, as well as dozens of apparently unique associations, which need further delineation. We report on a 23-year-old woman presenting the previously undescribed combination of widespread eccrine proliferation, multiple facial and oral pox-like lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. The patient has a healthy monozygotic twin. The eccrine proliferation is intermingled with areas of unaffected skin with a linear/segmental distribution on the limbs. The clinical presentation of such a complex phenotype fits well with the genetic mosaicism theory. The histologic findings, consisting of proliferation of immature to well-formed eccrine duct-like structures located in the deep dermis and interspersed with an abundant fibrous stroma constituted of horizontally oriented collagen fibers, seem a possible hallmark of this condition.