Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM 1 gene

2019 ◽  
Vol 58 (7) ◽  
pp. e135-e137 ◽  
Author(s):  
Anissa Zaouak ◽  
Ghaith Abdessalem ◽  
Rahma Mkaouar ◽  
Olfa Messaoud ◽  
Sonia Abdelhak ◽  
...  
Keyword(s):  
Vitamin D ◽  
Nonsense Mutation ◽  
Lamellar Ichthyosis ◽  
Congenital Lamellar Ichthyosis

scholarly journals Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene

2012 ◽  
Vol 40 (3) ◽  
pp. 2527-2532 ◽  
Author(s):  
Nacim Louhichi ◽  
Ikhlass Hadjsalem ◽  
Slaheddine Marrakchi ◽  
Fatma Trabelsi ◽  
Abderrahmen Masmoudi ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Lamellar Ichthyosis ◽  
Congenital Lamellar Ichthyosis

scholarly journals Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

2018 ◽  
Vol 66 (6) ◽  
pp. 856
Author(s):  
LindaMaria Genoveva De Piedade Sequeira ◽  
ShivanandC Bubanale ◽  
BhagyajyothiB Kurbet
Keyword(s):  
Lamellar Ichthyosis ◽  
Congenital Lamellar Ichthyosis

Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

Endocrine ◽  
2011 ◽  
Vol 40 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Vichit Supornsilchai ◽  
Yodporn Hiranras ◽  
Suttipong Wacharasindhu ◽  
Atchara Mahayosnond ◽  
Kanya Suphapeetiporn ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Nonsense Mutation ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene

scholarly journals A Novel Nonsense Mutation in the First Zinc Finger of the Vitamin D Receptor Causing Hereditary 1,25-Dihydroxyvitamin D3-Resistant Rickets

1997 ◽  
Vol 82 (11) ◽  
pp. 3892-3894 ◽  
Author(s):  
José B. Mechica ◽  
Maria Odette R. Leite ◽  
Berenice B. Mendonca ◽  
Eliana S. T. Frazzatto ◽  
Aurélio Borelli ◽  
...  
Keyword(s):  
Vitamin D ◽  
Zinc Finger ◽  
Vitamin D Receptor ◽  
Nonsense Mutation ◽  
Dihydroxyvitamin D3 ◽  
1,25 Dihydroxyvitamin D3 ◽  
Resistant Rickets

scholarly journals Multiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report

2021 ◽  
Vol 11 (7) ◽  
Author(s):  
Siddhartha Sinha ◽  
Amit Sharma ◽  
Sumit Gupta ◽  
Ankur Agarwal ◽  
Rajesh K Kanojia
Keyword(s):  
Vitamin D ◽  
Case Report ◽  
Short Stature ◽  
Vitamin D Deficiency ◽  
Secondary Infection ◽  
Vitamin D Supplementation ◽  
Osteotomy Site ◽  
Lamellar Ichthyosis ◽  
Vitamin D3 Supplementation ◽  
Gait Mechanics

Introduction: Ichthyosis is a group of disorders typically characterized by the accumulation of large scales over the skin. Mild bony deformities due to Vitamin D deficiency are commonly associated with this group of disorders which can be successfully treated with conventional Vitamin D supplementation. Severe multiple bony deformities requiring surgical correction are rarely reported and may be associated with various other disorders. Case Report: We report a case of a 15-year-old male with ichthyosis, short stature, and progressive multiple bony deformities since birth. The child was started on Vitamin D3 supplementation. Once biochemical parameters improved he underwent multiple corrective osteotomies in the bilateral tibia and right femur to improve gait mechanics. Our main concerns while managing the patient were regarding wound healing, secondary infection due to extensive scaling and healing at the osteotomy site. On follow-up we noted good healing at the osteotomy site without any surgical site infection or skin complications as well as improvement in gait mechanics and cosmesis. Conclusion: Severe bony deformities due to Vitamin D deficient are rare in ichthyosis and other syndromic causes should be ruled out. Surgical management can be beneficial in improving quality of life and gait biomechanics. Keywords: Lamellar ichthyosis, osteotomy, genetic testing, Vitamin D deficiency.

Sign in / Sign up

Export Citation Format

Share Document