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Child with Total Alopecia and Hypotonia

Arun C Inamadar MD Professor & Head, Dept of Dermatology BLDE University Bijapur, India aruninamadar@gmail.com. Child with Total Alopecia and Hypotonia. Presentation.

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Child with Total Alopecia and Hypotonia

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  1. Arun C Inamadar MD Professor & Head, Dept of Dermatology BLDE University Bijapur, India aruninamadar@gmail.com Child with Total Alopecia and Hypotonia

  2. Presentation .. • One year child born to consanguineous parents admitted for respiratory symptoms referred for evaluation of total alopecia since birth .. • H/O .. Hypotonia, seizures + Total alopecia HYPOTONIA

  3. Other clinical findings DELAYED DENTITION HARRISON SULCUS OPEN ANT FONTENELLA

  4. Radiological examination .. TWO CARPAL BONES NO EPIPHYSIS OF RADIUS R I C K E T S CUPPING, SPLAYING AND FEATHERING THIN PERIOSTEAL REACTION

  5. Investigations … • Serum calcium : 8.6 mg/dl (9.6 -10.6) • Serum phosphorus : 3.6 mg/dl (4.7) • Serum alkaline phosphate : 800 U/L • Serum 25-hydroxy D3 and 1,25(OH)2D3 : elevated

  6. VDDR – Type II AR , Atrichia at birth, Rickets resistant to 1-25dihydroxyvitamin DLoss of other body hair within first 15 months of lifeLab: hypocalcaemia , ↑ alkaline phosphate International Journal of Dermatology 2003, 42, 682–685

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