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This study examined a 7-year-old girl with trichomegaly of the eyelashes, showing no significant underlying or observable cause, suggesting a spontaneous occurrence.

This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.

This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.

This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.

This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.

This report discusses two cases of porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus, suggesting they may represent a single clinical entity, but reports no therapeutic outcomes.

This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.

This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.

This case report outlines a 10-year-old boy who experienced a six-year history of twenty-nail dystrophy, highlighting the importance of physical examination for early diagnosis and management of nail disorders, with his primary symptoms involving nail disfigurement and alopecia areata, but no other health issues.

This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

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.

This study reported that 19 out of 29 examined individuals from a family spanning seven generations exhibited the distinctive symptoms of hypotrichosis congenita hereditaria Marie Unna type.

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.

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.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

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

This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.

This study found that Frizzled genes Fzd3 and Fzd6 are redundantly involved in controlling hair follicle polarity in mice, but operate through distinct mechanisms, highlighting their complex role in hair orientation.

A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

This study observed unique ultrastructural changes in a 4-year-old girl with pili trianguli et canaliculi that may affect hair shaft surface characteristics due to inner root sheath alterations.

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.

This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.

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.

This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.