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This report discusses a teenager with blistering of localized epidermolysis bullosa simplex—Weber Cockayne type, recommending referral to dermatology, and includes no new clinical trials or broader conclusions.

This case report highlights a rare association between congenital triangular alopecia and vitiligo, noting that treatment with tofacitinib improved the patient's vitiligo but not the alopecia.

Among Japanese patients with generalized vitiligo, this study found a genetic susceptibility to autoimmune diseases, particularly autoimmune thyroid disease, within families.

This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.

This case report diagnosed variegate porphyria in a 33-year-old woman based on significant laboratory abnormalities, but with clinical features resembling porphyria cutanea tarda.

This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.

This review discusses the correlation between vitiligo and various autoimmune, systemic, and dermatological diseases, highlighting the need to increase awareness of these comorbidities.

A new mutation in the HR gene causes hair loss in a specific family.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.

In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.

This abstract contains navigation and subscription information for JAMA Dermatology and reports no new clinical findings.

The researchers reported that WNT10A gene variants are linked to short anagen hair syndrome, which suggests a potential genetic factor contributing to this hair condition.

This study found that wavy sinus hairs in cats were significantly associated with feline leukemia virus infection, suggesting this physical trait might be useful for identifying infected cats.

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 found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.

This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.

This study found that conditional knockout of N-WASP in keratinocytes of mice led to skin barrier defects, increased immune cell infiltration, and hyperproliferation of keratinocytes, indicating its crucial role in skin homeostasis.

This study identified a single autosomal recessive gene responsible for hypotrichosis in a mutant rabbit strain, affecting hair growth and causing epidermal and hair follicle abnormalities.

This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.

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.

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.

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

This case report presents a patient with woolly hair and associated symptoms, including keratosis pilaris, nail dystrophy, increased interdental spaces, and recurrent bullous impetigo, observing a combination not previously reported.

In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.

This letter reports a woman with nevoid basal carcinoma syndrome and pronounced androgenic alopecia associated with a novel PTCH gene mutation p.Leu1159fsx32, suggesting a genetic link in this case study.

In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.

This article discusses various dermatological studies cited by previous authors and reports no new clinical results.

This study reports a unique case of trichotillomania as a presenting sign in a patient with neurological Wilson's disease, confirmed by genetic testing and copper abnormalities.

This study describes two Danish cases of Cronkhite-Canada syndrome presenting with malnutrition and gastrointestinal issues; both patients underwent successful treatment and remission after developing colonic adenocarcinomas.