Alopecia in patients with vitamin D-resistant rickets type-II

Miksza, Karisa Farias; Brenner, Fabiane Mulinari; Andreola, Gabriel Martinez; Sakiyama, Paula Hitomi

doi:10.1590/abd1806-4841.20175706

Cited by 2 publications

(6 citation statements)

References 4 publications

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“…9,11,14,15,16,17,18,19,20,22 Alopecia is associated with poor prognosis and could have an important diagnostic value. 4,9,11,13,14,19,20 Histopathological examination shows hypoplastic hair follicles, follicular remnants, and cysts with no scarring or inflammation. 18,23 The mechanism by which the VDR regulates hair growth is still poorly elucidated.…”

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

“…[8][9][10][11][12][13][14][15][16][17][18][19][20] It represents an early symptom that occurs in 2/3 of cases. 4 It may be present at birth or develop during the first year of life. 9,11,14,15,16,17,18,19,20,22 Alopecia is associated with poor prognosis and could have an important diagnostic value.…”

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

“…18,23 The mechanism by which the VDR regulates hair growth is still poorly elucidated. 4,17,20,21,24 However, alopecia was related to the type of mutation in VDR gene. 11,13 Screening is crucial.…”

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

“…Treatment of HVDDR2 is essential before reaching 3 years of age to avoid complications. 4,24 It consists of high doses of calcitriol and calcium supplementation. 13,16,18,19 Slight or no improvement of alopecia is usually reported.…”

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

“…Rickets is due to the inadequate extracellular concentration of calcium and phosphate ions. 4 Causes of rickets include reduced synthesis of 1,25-dihydroxyvitamin D, hypocalcemic vitamin D-dependent rickets (HVDDR type 1), mutations in vitamin D receptor (VDR) leading to hypocalcemic vitamin D-dependent rickets type 2 (HVDDR2) and hypophosphatemia. 5,6 The latter could be related to fibroblast growth factor 23 (FGF 23) overproduction.…”

Section: Introductionmentioning

confidence: 99%

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Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Litaiem

Chabchoub

Bacha

et al. 2020

Photoderm Photoimm Photomed

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Background Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at‐risk populations. The skin plays a critical role in vitamin D synthesis. Therefore, several skin diseases, especially keratinization disorders, could lead to impaired vitamin D metabolism and vitamin D deficient rickets. Objective The article aimed to summarize the current knowledge of skin diseases and conditions associated with rickets. Methods To examine the association between rickets and skin diseases, we performed a systematic review of the literature using PubMed database. The search included studies published from the database inception to August 2019. Results A total number of 75 articles were included. Identified conditions associated with rickets were ichthyosis being a more common skin diseases, alopecia, epidermal and melanocytic nevi, xeroderma pigmentosum, mastocytosis, psoriasis, and atopic dermatitis. Three types of rickets were identified: vitamin D‐dependent rickets, hypocalcemic vitamin D‐dependent rickets type 2, and hypophosphatemic rickets. Cutaneous skeletal hypophosphatemia syndrome is a newly described and under‐recognized condition. It is defined by the association of epidermal or melanocytic nevi, hypophosphatemic rickets, and elevated levels of fibroblast growth factor 23. Rickets in patients with ichthyosis was mainly due to impaired ability of ichthyotic skin to synthesize vitamin D, poor UV penetration of the skin caused by keratinocyte proliferation, and dark phototype. The latter may be considered a risk factor for rickets in patients with ichthyosis. Conclusion Despite its rarity, these associations should be properly recognized by dermatologists. Early diagnosis of rickets is important to prevent growth retardation and skeletal deformities.

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Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Litaiem

Chabchoub

Bacha

et al. 2020

Photoderm Photoimm Photomed

View full text Add to dashboard Cite

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A patient with rickets and alopecia totalis

Edara,

Philip,

Shivashankariah

et al. 2023

Journal of Clinical and Scientific Research

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Rickets is a disorder of bone mineralisation. Common causes of rickets are dietary calcium and Vitamin deficiency. Mutations in vitamin D activity are known to cause Vitamin D-resistant rickets (VDRRs). Various types of VDRRs have been identified – type I and type II along with their subtypes. They present with the typical features of rickets such as bowing of legs and rachitic rosary. They are differentiated by certain clinical and biochemical parameters from the common causes. Further molecular testing is required to evaluate various types of VDRRs. Most cases of VDRRs are diagnosed based on clinical and biochemical features commonly described in the literature, but genetic studies are required to characterise various subtypes. Such cases require life-long treatment of calcium and vitamin D supplementation. We present a case of VDRRs type II, evaluated, treated and followed up at regular intervals, and it has shown improvement in biochemical parameters, clinically as well as radiologically.

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Alopecia in patients with vitamin D-resistant rickets type-II

Cited by 2 publications

References 4 publications

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

A patient with rickets and alopecia totalis

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