Hereditary Vitamin D–Resistant Rickets Presenting as Alopecia

Casey, Genevieve; McPherson, Tess; Kini, Usha; Ryan, Fiona; Taibjee, Saleem M.; Moss, Celia; Burge, Susan

doi:10.1111/pde.12327

Cited by 7 publications

(4 citation statements)

References 5 publications

(3 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As shown in our study, various patterns of alopecia occur, ranging from total absence of hair to diffuse sparse hair, to areas of absent hair adjacent to areas with hair. There does not appear to be a correlation of the alopecia pattern with the type of mutation present [1,2,12,13] . In the present report, unrelated children with the same mutation showed different patterns of alopecia.…”

Section: Discussionmentioning

confidence: 94%

See 1 more Smart Citation

Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

Ameur

Silve²,

Chabchoub³

et al. 2016

Horm Res Paediatr

View full text Add to dashboard Cite

Background: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene. Some HVDRR patients also have alopecia. Patients and Methods: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. Results: Eight patients from 7 families met the inclusion criteria. Alopecia was noted in 7 patients. Two different homozygous mutations in the VDR gene were identified in 6 patients: the p.K45E mutation located in the DNA-binding domain (5 patients with alopecia) and a novel p.T415R mutation located in the ligand-binding domain. A p.E143del CYP24A1 mutation, in the gene encoding the 25-hydroxyvitamin D3-24-hydroxylase, was identified in 2 brothers carrying the VDR gene mutation p.K45E. Six patients were treated with intermittent intravenous calcium treatment via the peripheral route with a clear improvement in 5 cases. Conclusion: To the best of our knowledge, this is the first major series reporting on HVDRR in Tunisia. The same mutation (p.K45E) was found in 5 apparently unrelated affected individuals. We have also extended the mutation spectrum by studying 1 novel VDR mutation.

show abstract

Section: Discussionmentioning

confidence: 94%

“…Alopecia in HVDRR patients is phenotypically similar to the disease atrichia with papular lesions caused by mutations in the hairless gene ( hr ). The hr gene product HR has been shown to act as a corepressor of the VDR [1,13,14] .…”

Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

Ameur

Silve²,

Chabchoub³

et al. 2016

Horm Res Paediatr

View full text Add to dashboard Cite

show abstract

“…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. 4,9,11,13,14,19,20 Histopathological examination shows hypoplastic hair follicles, follicular remnants, and cysts with no scarring or inflammation.…”

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

confidence: 99%

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

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.

show abstract

“…2,3 Vitamin D-dependent rickets type II (VDDRII) results from the mutation on the vitamin D receptor gene (VDR), which is expressed in several target organs (intestines, kidneys, bones, parathyroid, and hair follicle). 4,5 Immunohistochemical study demonstrated the VDR expression in keratinocytes of the outer rooth sheath hair and in dermal papillae fibroblasts, with higher immunoreactivity levels during the anagen and catagen phases. Therefore, when the VDR system is not intact, inadequate differentiation of the pilous follicle takes place, separate from electrolyte homeostasis, which would explain the occurrences of these signals, specifically in VDDR type II, and which would most likely result in the maintenance of alopecia, despite the replacement of vitamin D and calcium.…”

mentioning

confidence: 98%