Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets

Hanna, Artsi; Sanjad, Sami A.; Andary, Rabih R.; Nemer, Georges; Ghafari, Joseph G.

doi:10.1177/2380084417732510

Cited by 10 publications

(13 citation statements)

References 38 publications

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“…Alopecia, usually universal, is a clinical feature of HVDRR2 ( Figure 2A). [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.…”

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

confidence: 99%

“…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%

“…4,17,20,21,24 However, alopecia was related to the type of mutation in VDR gene. 11,13 Screening is crucial. Patients with congenital or early-onset universal alopecia, especially in the absence of cysts and milia, should be screened for HVDDR2.…”

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

confidence: 99%

“…13,16,18,19 Slight or no improvement of alopecia is usually reported. 4,11,13,14,17,19,20,24,25 lead to epidermal barrier dysfunction. 26 Reported cases of rickets in patients with ichthyosis are summarized in Table 3.…”

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

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%

See 2 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

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“…Histologically, there is abnormal enamel matrix and dysplastic dentin. A common clinical presentation entails the formation of channels between the pulp chamber and dentinoenamel junction which allow microorganisms to enter the pulp causing dental abscesses 29 .…”

Section: Growth Hormone Deficiencymentioning

confidence: 99%

The implications of endocrinology in orthodontics: Literature review

Kamal¹,

Mahmood²,

Fida³

2020

Balkan J Dent Med

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SummaryEndocrinopathies have a variety of orofacial presentations which span from dental malocclusion to facial disfigurement. These characteristics depend on the nature and severity of the condition. An orthodontist should understand the body’s physiological processes to be able to timely determine the optimum intervention and plan treatment stages accordingly in compromised individuals. Communication between the two specialties should be well coordinated and should help facilitate quality health care to the patient. This review was aimed to impart the basic knowledge and the pivotal guidelines for orthodontic management in these conditions. Systemic conditions require multidisciplinary management and the dental team should aim to provide quality oral health care to enhance the overall quality of life and the orthodontist plays a vital role in helping patients achieve physical and psychological health.

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Assessing the association between vitamin D receptor and dental age variability

et al. 2021

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Objectives To explore the association between genetic polymorphisms in vitamin D receptor (VDR), vitamin D serum levels, and variability in dental age. Material and methods This cross-sectional study was based on an oral examination, panoramic radiograph analysis, and genotype analysis from biological samples. Dental age was evaluated using two different methods: Demirjian et al. (Hum Biol 45:211–227, 1973) and Hofmann et al. (J Orofac Orthop.78:97–111, 2017). The genetic polymorphisms BglI (rs739837) and FokI (rs2228570) in VDR were genotyped through real-time PCR. The vitamin D level was also measured in the serum. Delta (dental age–chronological age) was compared among genotypes in VDR in the co-dominant model. Multiple linear regression analysis was also performed. An established alpha of 5% was used. Results Genotype distributions of BglI and FokI were not associated with dental maturity (p > 0.05). In the logistic regression analyses, genotypes in BglI and FokI and vitamin D levels were not associated with variability in dental age (p > 0.05). Conclusions The genetic polymorphisms BglI and FokI in VDR and the vitamin D levels were not associated with variability in dental age. Clinical relevance To unravel the factors involved in dental maturity can improve dental treatment planning in pediatric and orthodontic practice.

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Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets

Cited by 10 publications

References 38 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

The implications of endocrinology in orthodontics: Literature review

Assessing the association between vitamin D receptor and dental age variability

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