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In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.

The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.

This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

This case report describes a 2-year-old girl with loose anagen syndrome type B, confirmed by painless trichoscopic examination, with no signs in her identical twin sister.

This case report describes an individual who developed both localized hypertrichosis and ipsilateral dyshidrotic dermatitis following multiple fractures and cast application, with symptom resolution similar to when these conditions occur independently.

This article describes a case of dyschromatosis universalis in a young Saudi Arabian girl, discussing similar cases reported outside the Far East where the condition was initially identified, but provides no new research findings.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

This report describes a patient with symptoms suggestive of both loose anagen hair syndrome and uncombable hair syndrome, adding to previous instances of overlapping features between these conditions.

This report describes a case of trachyonychia with associated various types of lichen planus in a young male, highlighting the importance of accurate diagnosis for effective treatment.

This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.

This abstract discusses Netherton Syndrome, a genetic disorder with a characteristic triad of symptoms caused by SPINK5 gene mutation, and reports no new clinical findings or treatment advances.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

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

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.

The authors reviewed cases of six children with both hair-shaft abnormalities and neurological disorders, noting that such hair defects may indicate neurological conditions, including potentially treatable metabolic errors.

This case report presents a 2-year-old girl with type B loose anagen syndrome diagnosed through a painless hair pull test, avoiding unnecessary further tests or referrals.

This case report describes a 9-year-old girl with pseudonits and highlights frequent challenges in correctly diagnosing this condition.

Isolated patchy heterochromia with pili annulati can occur without other health issues.

This case report describes a 9-year-old Thai girl with Satoyoshi syndrome, where oral corticosteroid therapy significantly improved her painful muscle spasms and alopecia.

This case report and review discuss hair-thread tourniquet syndrome in a 14-year-old autistic child, highlighting its rarity and the misconception of it being linked to abuse or socio-cultural practices.

This letter to the editors describes a case of diffuse congenital hypotrichosis simplex with associated hair shaft fragility but reports no new clinical findings.

This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.

In this case report, researchers observed that a malnourished male patient developed pseudoglucagonoma syndrome, characterized by necrolytic migratory erythema and diffuse hair loss, following Frey's surgery, which rapidly improved with enhanced nutrition.

This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.

This case report describes a 7-year-old female from the Middle East with monilethrix, highlighting the disease's rarity in this population, characterized by brittle, sparse hair and keratosis pilaris.

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 study found that the weak tensile strength of pili torti hair may result from loose keratin intermediate filaments due to abnormalities in disulfide bonds.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

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 case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.