Literature DB >> 26661284

Short stature with congenital ichthyosis.

Som J Lakhani1, Om J Lakhani2.   

Abstract

PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome. 2015 BMJ Publishing Group Ltd.

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Year:  2015        PMID: 26661284      PMCID: PMC4680277          DOI: 10.1136/bcr-2015-212610

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  4 in total

Review 1.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

2.  Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin.

Authors:  K Chouhan; G Sethuraman; N Gupta; V K Sharma; M Kabra; B K Khaitan; V Sreenivas; M Ramam; S Kusumakar; S Thulkar; A S Paller
Journal:  Br J Dermatol       Date:  2012-03       Impact factor: 9.302

3.  Evidence of a marked 25-hydroxyvitamin D deficiency in patients with congenital ichthyosis.

Authors:  S Ingen-Housz-Oro; P Boudou; C Bergot; F Ibrahim; J C Souberbielle; L Dubertret; C Blanchet-Bardon
Journal:  J Eur Acad Dermatol Venereol       Date:  2006-09       Impact factor: 6.166

4.  Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center.

Authors:  Flora Frascari; Isabelle Dreyfus; Lauriane Rodriguez; Isabelle Gennero; Khaled Ezzedine; Jean-Pierre Salles; Juliette Mazereeuw-Hautier
Journal:  Orphanet J Rare Dis       Date:  2014-08-05       Impact factor: 4.123

  4 in total
  1 in total

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

Authors:  Siddhartha Sinha; Amit Sharma; Sumit Gupta; Ankur Agarwal; Rajesh K Kanojia
Journal:  J Orthop Case Rep       Date:  2021-07
  1 in total

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