Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature

Al-Khenaizan, Sultan; Vitale, Patricia

doi:10.1046/j.1365-4362.2003.01816.x

Cited by 28 publications

(7 citation statements)

References 50 publications

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“…767 It is an autosomal recessive condition in which mutations occur in the human hairless gene (HR), a putative single zinc-finger transcription factor protein which has been mapped to chromosome 8p21.2. [776][777][778][779] The clinical findings of the two types are strikingly similar. [770][771][772][773] Compound heterozygosity has also been reported.…”

Section: Histopathologymentioning

confidence: 91%

Diseases of cutaneous appendages

Weedon

2010

Weedon's Skin Pathology

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Section: Histopathologymentioning

confidence: 91%

Diseases of cutaneous appendages

Weedon

2010

Weedon's Skin Pathology

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“…The systemic fi ndings of XLH include bowed legs because of a body load showing immature skeletal bone calcifi cati on, spinal curvature deformiti es and beading of the ribs called rachiti c rosary [25][26][27] . Other causes of rickets include renal disease, medicati ons, and malabsorpti on syndromes (Table 1 8, [9][10][11][12][13][14][15] ).…”

Section: Types Of Ricketsmentioning

confidence: 99%

“…However, impaired lα(OH)2D metabolism has also been suggested 6,7 . Various types of rickets with clinical features and treatments defi ned on Table 1 8, [9][10][11][12][13][14][15] . The aim of this literature review is to present various types of rickets with clinical features and the dental fi ndings, preventi ve measurements and treatments.…”

Section: Literature Review Introductionmentioning

confidence: 99%

Types of Rickets, Dental and Histologic Findings: Review of the Literature

Tümen¹

2009

Pesq Bras Odontoped Clin Integr

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Introducti on: A disease that occurs during childhood, rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can ocur because of the lack of calcifi ed osteoid and the buildup of unossifi ed carti lage. Proper bone formati on requires a complex interplay of several organs and chemicals, and vitamin D deserves special menti on because any disturbance in its producti on, absorpti on, or metabolism is paramount in the development of rickets. The pathophysiology of the disease is thought to be impaired phosphate transport, especially decreased phosphate resorpti on in the renal proximal tubule, as well as in the intesti ne. In most cases, the diagnosis is established with a thorough history and physical examinati on and confi rmed by laboratory evaluati on. Early diagnosis is essenti al because morbidity can be minimized if children are treated before eight months of age. Objecti ve: The aim of this literature review is to present various types of rickets with clinical features and the dental fi ndings, preventi ve measurements and treatments. Conclusion: The denti st as well as the pediatrician should be made aware of the features of this disorder so that early interventi on can prevent subsequent serious and more invasive dental procedures. KEYWORDS DESCRITORES Rickets;Hypophosphataemia; Oral manifestati ons; Therapeuti cs. RESUMO ABSTRACTIntrodução: O raquiti smo, uma doença que ocorre durante a infância, é a falta de crescimento ósseo necessário para a mineralização. Diversas alterações radiográfi cas esqueléti cas podem ocorrer devido a ausência de osteóide calcifi cado e a formação de carti lagem. A formação óssea adequada requer uma complexa interação de vários órgãos e produtos químicos, e a vitamina D merece uma menção especial, pois qualquer alteração na sua produção, absorção ou no seu metabolismo é fundamental para o desenvolvimento do raquiti smo. Acredita-se que a fi siopatologia da doença está no transporte inadequado do fosfato, especialmente na diminuição da reabsorção de fosfato no túbulo renal proximal bem como no intesti no. Na maioria dos casos, o diagnósti co é estabelecido com uma história completa e exame fí sico, e confi rmado por exames laboratoriais. O diagnósti co precoce é essencial, pois a morbidade pode ser minimizada se as crianças forem tratadas antes dos oito meses de idade. Objeti vo: Apresentar os vários ti pos de raquiti smo com suas característi cas clínicas, aspectos dentários, medidas preventi vas e tratamento. Conclusão: O cirurgião-denti sta, bem como o pediatra, devem ser informados das característi cas desta desordem para que a intervenção precoce possa evitar seqüelas subsequentes e procedimentos odontológicos mais invasivos.

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“…Some patients also have total body alopecia [1,2]. Alopecia has been thought to be associated with increased severity of the disease, although there have also been severe cases without alopecia [3,4]. …”

Section: Introductionmentioning

confidence: 99%

Successful Intermittent Intravenous Calcium Treatment via the Peripheral Route in a Patient with Hereditary Vitamin D-Resistant Rickets and Alopecia

Ersoy

Kiremitçi²,

Isojima³

et al. 2015

Horm Res Paediatr

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Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by mutations in the vitamin D receptor (VDR) gene, which result in end-organ resistance to 1,25-(OH)₂D₃. Patients with HVDRR are mostly treated using i.v. calcium therapy with a central catheter. However, central catheter-related complications have been reported. Patient: The patient was a 3-year-old boy presenting with waddling gait and alopecia. He had hypocalcemia [8 mg/dl (2 mmol/l)], hyperparathyroidism (1,232 ng/l), and elevated 1,25-(OH)₂D₃ levels (>250 pmol/l). DNA sequence analyses of the VDR gene showed a homozygous C-T transition at codon 152, resulting in a non-sense mutation in exon 5. Interventions and Outcomes: The patient was initially treated with calcitriol (80 ng/kg/day) and high-dose oral calcium (150 mg/kg/day) for one year. At the end of the first year, intermittent (5 days per month) i.v. calcium therapy without a central catheter was initiated because of insufficient clinical and radiological improvement. After 2 years of intermittent i.v. calcium therapy, there was a clear improvement based on clinical progress and on X-ray and biochemical findings. No peripheral complications were reported either. Conclusion: HVDRR with a non-sense mutation in the ligand-binding domain and alopecia was successfully treated with intermittent i.v. calcium without a central catheter.

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Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature

Cited by 28 publications

References 50 publications

Diseases of cutaneous appendages

Diseases of cutaneous appendages

Types of Rickets, Dental and Histologic Findings: Review of the Literature

Successful Intermittent Intravenous Calcium Treatment via the Peripheral Route in a Patient with Hereditary Vitamin D-Resistant Rickets and Alopecia

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