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alopecia and type 2 rickets

Divya Vupperla, Snehal Balvant Lunge, Praveen Elaprolu
Vitamin D-dependent rickets type II is a rare hereditary disorder. It occurs due to mutations in the gene chr. 12q12-q14, which codes for vitamin D receptor. End-organ resistance to 1,25-(OH)2 vitamin D3 and alopecia in severe cases are the characteristic features. We report a case of a 4-year-old boy with loss of hair over the scalp and body - first observed after 1 month of birth. The boy also developed difficulty in walking at the age of 2 year. On analysis, reduced serum calcium level (7.5 mg/dL) and elevated alkaline phosphatase level (625 IU/L) were reported...
March 2018: Indian Journal of Dermatology
Min-Hua Tseng, Shih-Ming Huang, Fu-Sung Lo, Jing-Long Huang, Chih-Jen Cheng, Hwei-Jen Lee, Shih-Hua Lin
The functional study of different mutations on vitamin D receptor (VDR) gene causing hereditary vitamin D-resistant rickets (HVDRR) remains limited. This study was to determine the VDR mutation and the mechanisms of this mutation-causing phenotype in a family with HVDRR and alopecia. Phenotype was analyzed, and in vitro functional studies were performed. The proband and his affected sister exhibited typical HVDRR with alopecia, and their biochemical and radiographic abnormalities but not alopecia responded to supraphysiological doses of active vitamin D3 ...
November 10, 2017: Scientific Reports
Yuka Kinoshita, Nobuaki Ito, Noriko Makita, Masaomi Nangaku, Seiji Fukumoto
Vitamin D-dependent rickets type 2A (VDDR2A) is a rare inherited disorder with decreased tissue responsiveness to 1,25-dihydroxyvitamin D [1,25(OH)2D], caused by loss of function mutations in the vitamin D receptor (VDR) gene. Approximately 50 types of mutations have been identified so far that change amino acids in either the N-terminal DNA binding domain (DBD) or the C-terminal ligand binding domain (LBD) of the VDR protein. The degree of responsiveness to 1,25(OH)2D varies between patients with VDDR2A, which may depend on their residual VDR function...
March 31, 2017: Endocrine Journal
Anna Papadopoulou, Evangelia Bountouvi, Evangelia Gole, Artemis Doulgeraki, Symeon Tournis, Anastasios Papadimitriou, Polyxeni Nicolaidou
BACKGROUND/AIMS: We analyzed the vitamin D receptor (VDR) gene in 2 Greek patients who exhibited the classical features of hereditary vitamin D-resistant rickets (HVDRR) type II, including severe bone deformities and alopecia. We also describe the clinical phenotypes and the response to treatment of our patients. METHODS: Genomic DNA was extracted from peripheral blood samples of both patients. Coding region and flanking introns of VDR gDNA was amplified and direct sequenced...
2014: Hormone Research in Pædiatrics
Peter J Malloy, Yulin Zhou, Jining Wang, Olaf Hiort, David Feldman
Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). Patients exhibit severe rickets and hypocalcemia. Heterozygous parents and siblings appear normal and exhibit no symptoms of the disease. We analyzed the VDR gene of a young girl who exhibited the clinical features of HVDRR without alopecia. The patient had clinical and radiographic features of rickets, hypocalcemia, and elevated serum concentrations of 1,25-dihydroxyvitamin D [1,25(OH)(2)D]...
November 2011: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Ze'ev Hochberg
This presentation introduces clinical aspects of hormone resistance through a number of case studies that illustrate how molecular defects at various steps in hormone production, signaling, or responsiveness can produce disease in humans. The presentation also shows how careful phenotyping of such patients has triggered decades of translational research.
October 12, 2010: Science Signaling
Peter J Malloy, David Feldman
Two rare genetic diseases can cause rickets in children. The critical enzyme to synthesize calcitriol from 25-hydroxyvitamin D, the circulating hormone precursor, is 25-hydroxyvitamin D-1alpha-hydroxylase (1alpha-hydroxylase). When this enzyme is defective and calcitriol can no longer be synthesized, the disease 1alpha-hydroxylase deficiency develops. The disease is also known as vitamin D-dependent rickets type 1 or pseudovitamin D deficiency rickets. When the VDR is defective, the disease hereditary vitamin D-resistant rickets, also known as vitamin D-dependent rickets type 2, develops...
June 2010: Endocrinology and Metabolism Clinics of North America
Raquel Santos, Sérgio Neves, Clara Gomes, Farela Neves, António Jorge Correia
Rickets is a rare child disease especially in developed countries. Nutritional rickets remains the most prevalent condition, although congenital forms are well known. In the latest group, vitamin D dependent rickets type II is the rarest form and it can course with or without alopecia. There is a mutation on the receptor for vitamin D, with peripheral resistance to the vitamin D action. The authors present two clinical cases of vitamin D dependent rickets type II, in which the alopecia was a peculiar clinical sign that allowed the diagnoses...
November 2009: Acta Médica Portuguesa
Yousef Shafeghati, Nima Momenin, Taher Esfahani, Edwin Reyniers, Wim Wuyts
Hereditary vitamin D-resistant rickets type or vitamin D-dependent rickets type II is a genetically determined and rare autosomal recessive disorder, most often caused by mutations in the vitamin D receptor gene. It usually presents with rachitic changes not responsive to vitamin D treatment and the circulating levels of 1,25 (OH)2 vitamin D-3 are elevated, differentiating it from vitamin D-dependent rickets type I. Alopecia capitis or alopecia totalis is seen in some families with vitamin D-dependent rickets type II...
May 2008: Archives of Iranian Medicine
Roger Bouillon, Annemieke Verstuyf, Chantal Mathieu, Sophie Van Cromphaut, Ritsuko Masuyama, Petra Dehaes, Geert Carmeliet
Vitamin D is a secosteroid of nutritional origin but can also be generated in the skin by ultraviolet light. After two hydroxylations 1,25-(OH)2 vitamin D avidly binds and activates the vitamin D receptor (VDR), a nuclear transcription factor, hereby regulating a large number of genes. The generation of VDR deficient mice has expanded the knowledge on vitamin D from a calcium-regulating hormone to a humoral factor with extensive actions. The effects of the vitamin D system on calcium and bone homeostasis are largely mediated by promoting active intestinal calcium transport via the induction of the epithelial calcium channel TRPV6...
December 2006: Best Practice & Research. Clinical Endocrinology & Metabolism
Reuven Bergman, Rinat Schein-Goldshmid, Zeev Hochberg, Ofer Ben-Izhak, Eli Sprecher
OBJECTIVE: To establish the unique and common clinical and microscopic characteristics of the alopecias associated with vitamin D-dependent rickets (VDDR) type IIA and with hairless gene mutations. DESIGN: A comparative clinical, histologic, and immunohistochemical study of the alopecias in 6 patients with VDDR IIA and 4 patients with atrichia with papular lesions (APL) and/or alopecia universalis congenita (AUC) (hereinafter "APL/AUC"). MAIN OUTCOME MEASURES: Clinical data were gathered from medical records, personal interviews, and physical examinations...
March 2005: Archives of Dermatology
Peter J Malloy, Rong Xu, Lihong Peng, Sara Peleg, Abdullah Al-Ashwal, David Feldman
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). We studied a young Saudi Arabian girl who exhibited the typical clinical features of HVDRR, but without alopecia. Analysis of her VDR gene revealed a homozygous T to C mutation in exon 7 that changed isoleucine to threonine at amino acid 268 (I268T). From crystallographic studies of the VDR ligand-binding domain, I268 directly interacts with 1,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)] and is involved in the hydrophobic stabilization of helix H12...
November 2004: Endocrinology
Suzan Ozer, Aylin Uluşahin, Semra Ulusoy, Hamza Okur, Turgay Coşkun, Timur Tuncali, Ahmet Göğüş, A Nurten Akarsu
The vitamin D hypothesis of schizophrenia is a recent concept bringing together old observations on environmental risk factors and new findings on the neurodevelopmental effects of vitamin D. Candidate genes related to the vitamin D endocrine system have not yet been fully explored for this purpose. The coexistence of vitamin-D-dependent-rickets type II with alopecia (VDDR IIA) and different forms of psychosis in the same inbred family has provided us with an opportunity to investigate the presumed relationship between vitamin D deficiency and psychosis...
March 2004: Progress in Neuro-psychopharmacology & Biological Psychiatry
Abraham Zlotogorski, Ze'ev Hochberg, Paradi Mirmirani, Arye Metzker, Dan Ben-Amitai, Amalia Martinez-Mir, Andrey A Panteleyev, Angela M Christiano
BACKGROUND: The genetic basis of 2 distinct forms of atrichia with papules has recently been defined at the molecular level. In atrichia with papular lesions (APL; Online Mendelian Inheritance in Man [OMIM] 209500), mutations in the hairless gene on chromosome 8p21 have recently been identified. Atrichia with papules also occurs in the clinical setting of vitamin D-dependent rickets type IIA (VDDR IIA; OMIM 277440), resulting from mutations in the vitamin D receptor gene on chromosome 12q12-q14...
December 2003: Archives of Dermatology
Barbara D Boyan, V L Sylvia, N McKinney, Z Schwartz
1alpha,25(OH)(2)D(3) regulates rat growth plate chondrocytes via nuclear vitamin D receptor (1,25-nVDR) and membrane VDR (1,25-mVDR) mechanisms. To assess the relationship between the receptors, we examined the membrane response to 1alpha,25(OH)(2)D(3) in costochondral cartilage cells from wild type VDR(+/+) and VDR(-/-) mice, the latter lacking the 1,25-nVDR and exhibiting type II rickets and alopecia. Methods were developed for isolation and culture of cells from the resting zone (RC) and growth zone (GC, prehypertrophic and upper hypertrophic zones) of the costochondral cartilages from wild type and homozygous knockout mice...
December 15, 2003: Journal of Cellular Biochemistry
Ze'ev Hochberg
Vitamin-D-dependent rickets type 2 results from autosomal recessive mutations of the vitamin D receptor gene. With congenital total body alopecia and onset of rickets during the second half of the first year of life, patients display rapidly progressing rachitic bone changes, hypocalcemia and secondary hyperparathyroidism. This article describes extensive personal experience with about one third of the world's reported cases, their clinical course, the physiological consequences, diagnostic steps, molecular findings and therapeutic approach, as they developed over the course of the last 25 years...
2002: Hormone Research
A al-Aqeel, P Ozand, S Sobki, W Sewairi, S Marx
OBJECTIVE: Some patients with rickets are resistant to vitamin D and its analogues; we therefore assessed whether or not normal mineralization could be achieved in the absence of an intact 1,25(OH)2D3 receptor-effector system, by the use of intravenous high dose calcium infusion, followed by high dose oral calcium. DESIGN: We studied two patients with vitamin D dependent rickets type II and with absent responses to either high dose calcitriol or to oral calcium alone...
August 1993: Clinical Endocrinology
S Balsan, M Garabedian, U A Liberman, C Eil, A Bourdeau, H Guillozo, R Grimberg, M J Le Deunff, M Lieberherr, P Guimbaud, M Broyer, S J Marx
UNLABELLED: Two unrelated patients, aged 22 months and 31 months, with alopecia and rickets resistant to 1,25-dihydroxyvitamin D (1,25-(OH)2D] (vitamin D-dependency type II) presented with similar biochemical and radiologic features. They were treated with large doses of vitamin D3 derivatives [25-hydroxyvitamin D3 (25-(OH)D3), 1,25-(OH)2D3, and 1 alpha-hydroxyvitamin D3] for 28 months and 6 yr, respectively. In both patients, serum 1,25-(OH)2D levels remained high (approximately 10- to 100-fold normal) during the different therapeutic regimens...
October 1983: Journal of Clinical Endocrinology and Metabolism
R Uhlig
We report about a pair of Turkish siblings suffering from alopecia and severe rickets. In the elder sister we could show the causal role of extreme resistance of target organs to 1.25-(OH)2-cholecalciferol. The birth of a brother who developed the same symptoms together with two other similar cases in siblings recently published by other authors, made it possible to recognize the disorder as a typical syndrome-like entity, based on a hereditary defect. By successful administration of excessive (and so-far not previously published) doses of Vitamin-D3 a way for therapeutic progress in this new type of vitamin-D-dependent rickets is shown...
July 1981: Monatsschrift Kinderheilkunde: Organ der Deutschen Gesellschaft Für Kinderheilkunde
T L Chen, M A Hirst, C M Cone, Z Hochberg, H U Tietze, D Feldman
To investigate further the cellular defects of vitamin D-dependent rickets type II with alopecia, we studied 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3] receptors and the response to 1,25-(OH)2D3 in cultured skin fibroblasts from rachitic patients. Our studies included cells from four affected patients from three kindreds and their parents and cells from five normal subjects. We measured total 1,25-(OH)2D3 receptor binding in cell extracts and the capacity of 1,25-(OH)2D3 to induce the enzyme 25-hydroxyvitamin D3-24-hydroxylase (24-hydroxylase) as a marker of functional response...
September 1984: Journal of Clinical Endocrinology and Metabolism
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