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.
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.
Authors: Faryan Jalalabadi; Jeffrey G Trost; Joshua A Cox; Edward I Lee; Crystal Y Pourciau Journal: Semin Plast Surg Date: 2016-08 Impact factor: 2.314
Authors: D Ovejero; Y H Lim; A M Boyce; R I Gafni; E McCarthy; T A Nguyen; L F Eichenfield; C M C DeKlotz; L C Guthrie; L L Tosi; P S Thornton; K A Choate; M T Collins Journal: Osteoporos Int Date: 2016-08-06 Impact factor: 4.507
Authors: Young H Lim; Diana Ovejero; Jeffrey S Sugarman; Cynthia M C Deklotz; Ann Maruri; Lawrence F Eichenfield; Patrick K Kelley; Harald Jüppner; Michael Gottschalk; Cynthia J Tifft; Rachel I Gafni; Alison M Boyce; Edward W Cowen; Nisan Bhattacharyya; Lori C Guthrie; William A Gahl; Gretchen Golas; Erin C Loring; John D Overton; Shrikant M Mane; Richard P Lifton; Moise L Levy; Michael T Collins; Keith A Choate Journal: Hum Mol Genet Date: 2013-09-04 Impact factor: 6.150
Authors: Young H Lim; Diana Ovejero; Kristina M Derrick; Michael T Collins; Keith A Choate Journal: J Am Acad Dermatol Date: 2016-08 Impact factor: 11.527