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This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.

This case study describes a child with rickets and alopecia who responded to a small dose of 1-a-hydroxyvitamin D3, but her alopecia remained unchanged despite treatment.

This study found that among adolescents with alopecia areata and significant hair loss, treatment with ritlecitinib resulted in greater hair regrowth and self-reported improvement compared to placebo over 48 weeks, with common side effects including headache, acne, and nasopharyngitis.

This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.

This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This case report describes a 43-year-old woman diagnosed with both Kikuchi-Fujimoto disease and systemic lupus erythematosus, who showed clinical improvement after treatment with glucocorticoids and hydroxychloroquine, highlighting the rare coexistence of these conditions and the ongoing uncertainty about the precise cause of Kikuchi-Fujimoto disease.

In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.

This case report concludes that the most likely diagnosis for the patient's symptoms is secondary syphilis with neurological involvement.

Farudodstat may effectively treat alopecia areata without harmful side effects.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.

This case report describes the first known instance of hereditary choreiform disorder associated with and aggravated by systemic lupus erythematosus, highlighting the need for vigilance in diagnosing co-existing autoimmune conditions.

This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.

This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.

In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.

This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.

This case report documents digital gangrene as an unusual early sign of late-onset systemic lupus erythematosus in a 56-year-old man, which improved with rituximab treatment.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

This case report details the first known instance of interferon-induced lichen planus in a seronegative HCV patient with metastatic renal cell carcinoma.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

In this study, researchers reported that the Pinkie mutation in mice, affecting RXRa activity, leads to skewed Th1 development and suggests RXRa's role in Th2 differentiation, impacting immune responses.