Rickets in Association with Skin Diseases and Conditions: A Review with Emphasis on Screening and Prevention

July 2020 in “ Photodermatology Photoimmunology & Photomedicine ”

N. Litaiem, I. Chabchoub, T. Bacha, M. Slouma, Faten Zéglaoui, Amor Khachemoune

rickets skin diseases vitamin D synthesis ichthyosis alopecia psoriasis vitamin D-dependent rickets hypocalcemic vitamin D-dependent rickets type 2 hypophosphatemic rickets cutaneous skeletal hypophosphatemia syndrome vitamin D

Studysummary This review discusses the link between various skin diseases, such as ichthyosis and psoriasis, and the occurrence of rickets, though no new clinical results were reported.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer

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research Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report

11 citations , January 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)”

This case report observed that while a 4-year-old boy with vitamin D-dependent rickets type II showed biochemical and bone improvement after vitamin D and calcium treatment, his alopecia did not improve.

research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia

6 citations , November 2017 in “Scientific reports”

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

research Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets

12 citations , September 2017 in “JDR Clinical & Translational Research”

In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets with Alopecia in Four Egyptian Families: Report of Three Novel Mutations in the Vitamin D Receptor Gene

10 citations , January 2014 in “Journal of Pediatric Endocrinology and Metabolism”

This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.

research Hereditary Vitamin D Rickets: A Case Series in a Family

6 citations , January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.

research The Role of Vitamin D Receptor Mutations in the Development of Alopecia

109 citations , June 2011 in “Molecular and Cellular Endocrinology”

Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

research Alopecia in Vitamin D-Dependent Rickets Type II Responding to 1α-Hydroxycholecalciferol

3 citations , December 2010 in “Annals of tropical paediatrics”

In this study, the authors reported that while conventional treatment improved rickets in a boy with vitamin D-dependent rickets type II, it also resulted in unexpected improvement in his alopecia.

research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets with Alopecia Resulting from the Same Novel Nonsense Mutation in the Vitamin D Receptor Gene

36 citations , January 2010 in “Journal of Pediatric Endocrinology and Metabolism”

This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.

research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

18 citations , November 2009 in “Calcified tissue international”

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From a Novel Missense Mutation in the DNA-Binding Domain of the Vitamin D Receptor

50 citations , September 2009 in “Molecular Genetics and Metabolism”

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

research Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

24 citations , November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia”

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling

21 citations , January 2006 in “Hormone Research in Paediatrics”

In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

research 1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia

110 citations , November 1984 in “The American Journal of Medicine”

This study observed that children with a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor experienced spontaneous healing of rickets as they aged, despite persistent mineral imbalances during treatment.