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In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

This study observed that the topical skin-whitening agent rhododendrol induced skin depigmentation in approximately 16,000 consumers, linked to melanocyte cytotoxicity and immune reactions.

This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.

This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.

This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.

Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.

This study identified "HTLV-1-associated lichenoid dermatitis" as a skin condition in HTLV-1-infected individuals, characterized by reactive eruptions associated with increased immunity toward infected CD4+ T cells.

This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.

This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.

This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.

This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

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

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.

This case report reviews the management of Rowell syndrome in a patient initially diagnosed with Rhupus syndrome and highlights their development of erythema multiforme after certain medications.

This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.

The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.

This case report describes a young female with Rhupus syndrome, characterized by symptoms of both Systemic Lupus Erythematosus and Rheumatoid Arthritis, who achieved clinical remission with treatment.

This review discusses the clinical manifestations and immune response to Rhodococcus equi infection in foals but reports no new clinical results.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

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.