Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder
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Gabriel Ángel Martos-Moreno
Abstract
Rhabdomiomas are rare mesenchymal benign tumors of striated muscle origin. Setting aside the cardiac (most atrial) rhabdomiomas typically associated to neurocutaneous syndromes (tuberous sclerosis), extracardiac rhabdomyomas appear clinically as a subcutaneous nodule or as a submucosal polypoid lesion. Among them, three main histologic subtypes can be differentiated on the basis of the degree of tumor differentiation: 1) fetal rhabdomioma, usually diagnosed during childhood and almost exclusively located in the in the head and neck region with rare reports in other locations; 2) adult rhabdomioma; and 3) genital rhabdomioma, reported to occur in the lower genital tract of young and middle-aged women and, exceptionally, in children (5).
Acknowledgments
CIBER Fisiopatología de la Obesidad y Nutrición (CB06/03). Fundación de Endocrinología y Nutrición. Instituto de Salud Carlos III, Fondo de Investigación Sanitaria (FIS: PI10/00747 and PI13/02195).
References
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©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- REVIEW
- Obesity-associated sympathetic overactivity in children and adolescents: the role of catecholamine resistance in lipid metabolism
- MINI REVIEW
- Idiopathic infantile hypercalcemia: case report and review of the literature
- ORIGINAL ARTICLES
- Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
- Effect of auditory guided imagery on glucose levels and on glycemic control in children with type 1 diabetes mellitus
- Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children
- Use of the triglyceride to HDL cholesterol ratio for assessing insulin sensitivity in overweight and obese children in rural Appalachia
- Carotid intima media thickness in obese children: is there an association with hyperlipidemia?
- Schoolchildren born VLBW or VLGA show height-related changes in body composition and muscle function but no evidence of metabolic syndrome risk factors. Results from the NEOLONG study
- Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty – a case series
- Urinary myo-inositol levels in Japanese schoolchildren with normal glucose tolerance
- Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome
- Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
- Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status
- Rare and curable renin-mediated hypertension: a series of six cases and a literature review
- CASE REPORTS
- Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder
- Simultaneous occurrence of diabetic ketoacidosis, thyroid storm, and multiple cerebral infarctions due to Moyamoya disease
- Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
- Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant
- Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome
- Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
Articles in the same Issue
- Frontmatter
- REVIEW
- Obesity-associated sympathetic overactivity in children and adolescents: the role of catecholamine resistance in lipid metabolism
- MINI REVIEW
- Idiopathic infantile hypercalcemia: case report and review of the literature
- ORIGINAL ARTICLES
- Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
- Effect of auditory guided imagery on glucose levels and on glycemic control in children with type 1 diabetes mellitus
- Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children
- Use of the triglyceride to HDL cholesterol ratio for assessing insulin sensitivity in overweight and obese children in rural Appalachia
- Carotid intima media thickness in obese children: is there an association with hyperlipidemia?
- Schoolchildren born VLBW or VLGA show height-related changes in body composition and muscle function but no evidence of metabolic syndrome risk factors. Results from the NEOLONG study
- Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty – a case series
- Urinary myo-inositol levels in Japanese schoolchildren with normal glucose tolerance
- Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome
- Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
- Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status
- Rare and curable renin-mediated hypertension: a series of six cases and a literature review
- CASE REPORTS
- Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder
- Simultaneous occurrence of diabetic ketoacidosis, thyroid storm, and multiple cerebral infarctions due to Moyamoya disease
- Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
- Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant
- Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome
- Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
