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Mutations in the DSG4 gene cause specific hair and scalp issues.

This case report describes a 50-year-old Kashmiri woman with plica polonica, detailing trichoscopic findings of entangled hair with crisscrossing shafts and concretions.

This article reports on a case where a 26-year-old woman with acromegaloidism was found to have X-tetrasomy, suggesting it should be considered in differential diagnoses due to its potential impact on growth-related genes.

This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.

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, nail matrix pathology in a patient with Cronkhite–Canada Syndrome revealed matrix hypergranulosis, suggesting that an inflammatory process may play a key role in the condition's pathogenesis.

This review reports two new cases of porokeratotic eccrine and hair follicle nevus and analyzes all known cases in the Spanish and English literature, suggesting a link to a GJB2 gene mutation.

This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.

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

In this clinical case study, a 9-year-old girl was diagnosed with monilethrix, a hereditary hair shaft disorder characterized by weak, beaded hair, with management focusing on minimizing hair trauma.

This case report describes a 45-year-old woman with an SLE-SSc overlap syndrome who experienced significant improvement in symptoms after tailored immunosuppressive therapy including prednisone and mycophenolate mofetil.

This case report describes a five-year-old boy diagnosed with nevus comedonicus syndrome, a rare skin condition, characterized by asymptomatic skin lesions and a congenital cataract of the right eye, without inflammation or typical signs of related conditions.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.

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 case report describes a 7-year-old girl diagnosed with multiple eccrine pilar angiomatous nevi, a rare variant of eccrine angiomatous hamartomas, characterized by slow growth and generally benign behavior.

This case report describes a six-year-old girl with hypertrichosis cubiti, characterized by excess terminal hair growth around the elbows, and notes treatment with over-the-counter depilatory creams and shaving to address aesthetic concerns.

This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.

A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

In this case report, a 59-year-old woman experienced burning sensations and developed atrophic, hypopigmented, ivory papules and plaques on her palms and soles over three years, which worsened after walking for extended periods.

This report describes several cases of pili annulati in children, highlighting its genetic predisposition and distinctive "zebra stripe" hair pattern, but notes no effective treatment is available.

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 study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

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 study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.