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

TLDR Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.

The review explored the association between rickets and various skin diseases, emphasizing the role of the skin in vitamin D synthesis and the importance of early diagnosis and prevention. It identified conditions such as ichthyosis, alopecia, and psoriasis as being associated with rickets, highlighting vitamin D deficiency as a common link. Alopecia was noted as a significant early sign of hypocalcemia vitamin D-dependent rickets type 2 (HVDDR2), occurring in 2/3 of cases. The review recommended screening for HVDDR2 in patients with congenital or early-onset universal alopecia and discussed the occurrence of rickets in patients with ichthyosis, often linked to vitamin D deficiency. Preventive measures included encouraging sun exposure, limiting exclusive breastfeeding, and extending vitamin D supplementation. The review underscored the complexity of managing rickets in the context of skin diseases and the need for personalized treatment approaches.

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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

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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

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