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A girl inherited excessive body hair from her mother and grandmother.

This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.

This report describes a 6-year-old girl with Turner syndrome and coexisting psoriasis, alopecia areata, and trachyonychia, suggesting a potential link between these conditions.

This study identified a novel E413K mutation in the hHb6 gene in a Chinese Han family with monilethrix, potentially linked to the characteristic moniliform hair structure.

This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.

This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

This study reports that hyperaesthetic leucotrichia primarily affects Arabian and American paint horses, occurring mainly in summer, with histological differences from erythema multiforme despite some shared features.

This review discusses congenital generalized hypertrichosis, focusing on its association with complex malformation syndromes, but it presents no new research findings.

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

This study found that ossification in trichilemmal cysts may be more common than previously thought, often associated with cyst wall rupture, and reports a novel case of ossifying TC with extramedullary hematopoiesis.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This article reports no new clinical findings but discusses two rare dermatological conditions, trichostasis spinulosa and eruptive vellus hair cysts, and their simultaneous occurrence.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This report identified longitudinal grooves in the hair shafts of four children, diagnosing them with uncombable-hair syndrome.

This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.

Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.

This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

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.