Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & ISI's SCI  
Users online: 2407  
Home | Subscribe | Feedback | Login 
About Latest Articles Back-Issues Articlesmenu-bullet Search Instructions Online Submission Subscribe Etcetera Contact
 :: Next article
 :: Previous article 
 :: Table of Contents
 ::  Similar in PUBMED
 ::  Search Pubmed for
 ::  Search in Google Scholar for
 ::  Article in PDF (83 KB)
 ::  Citation Manager
 ::  Access Statistics
 ::  Reader Comments
 ::  Email Alert *
 ::  Add to My List *
* Registration required (free) 

  IN THIS Article
 ::  References
 ::  Article Figures
 ::  Article Tables

 Article Access Statistics
    PDF Downloaded260    
    Comments [Add]    
    Cited by others 7    

Recommend this journal


Year : 2007  |  Volume : 53  |  Issue : 3  |  Page : 215-217

Vitamin D deficiency rickets with Lamellar ichthyosis

Department of Child Health, Christian Medical College, Vellore - 632 004, India

Correspondence Address:
T Sathish Kumar
Department of Child Health, Christian Medical College, Vellore - 632 004
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0022-3859.33872

Rights and Permissions

How to cite this article:
Sathish Kumar T, Scott X J, Simon A, Raghupathy P. Vitamin D deficiency rickets with Lamellar ichthyosis. J Postgrad Med 2007;53:215-7

How to cite this URL:
Sathish Kumar T, Scott X J, Simon A, Raghupathy P. Vitamin D deficiency rickets with Lamellar ichthyosis. J Postgrad Med [serial online] 2007 [cited 2023 Mar 21];53:215-7. Available from:


A five-year-old boy presented with history of multiple fractures involving both upper and lower limbs and progressive bony deformities leading to inability to walk over the past two years. He was the first child of non-consanguinous parents and was born normally. He was noticed to have thick skin right from birth. He was immunized appropriately and his dietary intake (including that of vitamin D) was adequate. There was no history suggestive of malabsorption, renal disorder or decreased exposure to sunlight.

His weight was 13 kg (< 50 th centile), height 87 cm (< 3 rd centile) and head circumference 50 cm. He had signs of rickets in the form of frontal bossing of the skull, widening of the wrists, rachitic rosary and protuberant abdomen without organomegaly. His upper arm and lower limb bones showed marked lateral bowing. Both fontanelles were closed. He had generalized thickening and hyperpigmentation of the skin with scaling.

As shown in [Table - 1], investigations confirmed the presence of rickets. The serum level of 25 OH Vitamin D 3 was less than 5 ng/ml (Normal: 9-37.6 ng/ml). Serum creatinine levels and arterial blood gas analysis were within normal limits. Radiographs of the wrists also corroborated the diagnosis of rickets as they showed cupping and fraying of the distal ends of the radius and ulna with growth plate widening [Figure - 1]A. Radiograph of upper arms and lower limbs showed bowing and shortening with multiple fractures. The skin biopsy showed a markedly thickened stratum corneum and epidermal thickening consistent with lamellar ichthyosis.

It was postulated that the patient's vitamin D deficiency was secondary to lamellar ichthyosis as a result of poor penetration of skin by ultraviolet rays. The child showed clinical, radiological and biochemical response [Table - 1], [Figure - 1]B to oral vitamin D 3 granules 30,000 units daily. He was advised regular application of liquid paraffin over the body. He underwent bilateral femoral closed wedge osteotomy and bilateral tibial osteotomy with rush pin nailing of both tibia for correction of deformities. With the aid of calipers, he was able to walk [Figure - 2]. His height velocity was 6cm/year over the next two years of follow-up. He was advised to continue vitamin D 3 supplementation lifelong to prevent recurrence of the deficiency and development of further complications.

Cutaneous hyperproliferative states like ichthyosiform dermatoses are uncommon causes of rickets in children. [1] Lamellar ichthyosis is an autosomal recessive disorder that is apparent at birth and is present throughout life. The following factors are proposed for development of rickets in skin disorders, (i) alterations in epidermal cholesterol metabolism possibly involving vitamin D receptors, (ii) increased keratinocyte proliferation resulting in poor or no penetration of skin by sunlight, (iii) associated vitamin D dependent rickets and (iv) limited sun exposure to prevent sunburn and sunstroke. [2] Milstone et al reported elevated parathyroid hormone and low-to-normal 25-hydroxyvitamin D values in patients with various disorders of keratinization, including three adult patients with lamellar ichthyosis. [3]

In our case vitamin D deficient rickets is most likely to be due to poor penetration of skin by sunlight resulting from increased keratinocyte proliferation. A low serum 25-hydroxyvitamin D 3 level in the absence of other causes of vitamin D deficiency supported our diagnosis. This boy showed marked improvement with vitamin D supplements, clinically and biochemically.

Although the ichthyosis did not improve with resolution of vitamin D deficiency and rickets, one of two children treated with topical calcipotriene showed improvement in the treated areas of skin. Calcipotriene does not seem to be effective in reversing systemic vitamin D deficiency but can be effective in improving the severity of skin disease in children with ichthyosis. [4] Children with vitamin D deficiency secondary to skin disorders need lifelong supplementation with vitamin D to prevent its deficiency and consequences. [5]

 :: References Top

1.Dayal D, Kumar L, Singh M. Non-bullous ichthyosiform erythroderma with rickets. Indian Pediatr 2002;39:207-8.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]
2.Griffiths WA, Judge MR, Leigh IM. Disorders of keratinization. In : Rook, Wilkinson, editors. Ebling Textbook of Dermatology, 6 th ed. Blackwell Science: Oxford; 1998. p. 1483-8.  Back to cited text no. 2    
3.Milstone LM, Ellison AF, Insogna KL. Serum parathyroid hormone level is elevated in some patients with disorders of keratinization. Arch Dermatol 1992;128:926-30.  Back to cited text no. 3  [PUBMED]  
4.Thacher TD, Fischer PR, Pettifor JM, Darmstadt GL. Nutritional rickets in ichthyosis and response to calcipotriene. Pediatrics 2004;114:e119-23.  Back to cited text no. 4  [PUBMED]  [FULLTEXT]
5.Holm AL, Goldsmith LA. Impetigo herpetiformis associated with hypocalcemia of congenital rickets. Arch Dermatol 1991;127:91-5  Back to cited text no. 5  [PUBMED]  


  [Figure - 1], [Figure - 2]

  [Table - 1]

This article has been cited by
1 Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention
Noureddine Litaiem, Ines Chabchoub, Takwa Bacha, Maroua Slouma, Faten Zeglaoui, Amor Khachemoune
Photodermatology, Photoimmunology & Photomedicine. 2020; 36(5): 339
[Pubmed] | [DOI]
2 Vitamin D Deficiency After Oral Retinoid Therapy for Ichthyosis
Shekhar Neema,Sweta Mukherjee,Biju Vasudevan,Rajesh Verma,Nikhil Moorchung,Manas Chatterjee
Pediatric Dermatology. 2015; 32(4): e151
[Pubmed] | [DOI]
3 Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: A French prospective observational study performed in a reference center
Flora Frascari,Isabelle Dreyfus,Lauriane Rodriguez,Isabelle Gennero,Khaled Ezzedine,Jean-Pierre Salles,Juliette Mazereeuw-Hautier
Orphanet Journal of Rare Diseases. 2014; 9(1)
[Pubmed] | [DOI]
4 Complications of ichthyosis beyond the skin
Lucia Z. Diaz,John C. Browning,Aimee C. Smidt,William B. Rizzo,Moise L. Levy
Dermatologic Therapy. 2013; 26(1): 39
[Pubmed] | [DOI]
5 lamellar ichthyosis with rickets
ali, r. and aman, s. and nadeem, m.
pakistan journal of medical sciences. 2013; 29(2): 660-662
6 vitamin d deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type iv and v skin
chouhan, k. and sethuraman, g. and gupta, n. and sharma, v.k. and kabra, m. and khaitan, b.k. and sreenivas, v. and ramam, m. and kusumakar, s. and thulkar, s. and paller, a.s.
british journal of dermatology. 2012; 166(3): 608-615
7 Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin
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
British Journal of Dermatology. 2012; 166(3): 608
[Pubmed] | [DOI]


Print this article  Email this article
Previous article Next article
Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow