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This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.

This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

This case report presents the dental challenges faced by a child with vitamin D-dependent rickets type II, including early onset rickets, alopecia, and specific dental abnormalities, emphasizing the need for comprehensive, multidisciplinary management.

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.

In this case study, a 12-year-old boy with a restricted diet exhibited symptoms of scurvy, including leg weakness and bruising, which improved following treatment with vitamin C and B12 supplements, highlighting the impact of severe vitamin deficiencies on health.

This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

This study reported that severe hair disturbances in infants and young children are associated with acute vitamin deficiencies in tropical America, unlike the milder cases observed in the United States.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

This article summarizes the essential roles and effects of deficiencies of both fat-soluble and water-soluble vitamins, noting issues ranging from blindness due to vitamin A deficiency to scurvy caused by a lack of vitamin C.

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.

This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.

This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.

This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.