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This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

This study reported an unusual case of nail matrix involvement and trachyonychia in a child with juvenile pityriasis rubra pilaris, showing significant improvement with topical therapy and oral biotin.

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 study reports a 6-year-old girl developing acquired progressive kinking hair syndrome, likely induced by sodium valproate, marking it as the first documented instance linked to this medication.

This case report highlights a rare presentation of hair-thread tourniquet syndrome in a two-year-old child, emphasizing that prompt identification and removal of the constricting fiber is crucial for successful treatment and prevention of tissue damage.

This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.

This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.

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 case report diagnosed an 8-year-old girl with trachyonychia and secondary onychomycosis, finding that spontaneous improvement is common, making specific therapy often unnecessary despite treatment challenges with associated fungal infections.

This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.

This article shares a case of Satoyoshi syndrome that was misdiagnosed as vitamin D-dependent rickets for several years.

In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.

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 suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

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 case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.

This report describes a patient with trichothiodystrophy exhibiting both specific hair abnormalities and developmental delay, contributing to the understanding of this rare disorder's clinical presentation.

This article reviews two cases of monilethrix in siblings, detailing their clinical and dermatoscopic characteristics, but reports no new findings.

This case report describes a novel association between uncombable hair syndrome and Zellweger syndrome due to a homozygous mutation in the PEX12 gene.

This case study reports a rare combination of primary hyperparathyroidism with Klinefelter syndrome in a 44-year-old male, highlighting an unusual KS mosaicism with a mild phenotype.

This case report describes a 16-year-old with ectrodactyly-ED-clefting syndrome, where scarring alopecia with follicular involvement appeared during puberty, possibly due to anatomic hair abnormalities.

In this case report, researchers describe a 17-year-old African male with an overlapping condition of juvenile dermatomyositis and systemic scleroderma, highlighting the importance of thorough history-taking and physical examination for accurate diagnosis and suggesting early referral to a pediatric rheumatologist to prevent severe outcomes.

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.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.