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This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

This study found that the twisted hair shafts characteristic of pili torti may result from uneven outer root sheath cell development, leading to irregular hair shaft modeling and twisting.

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 describes a 12-year-old boy with congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis, highlighting the severe complications and the necessity for early intervention.

This report presents a case of pili torti in a young girl with citrullinemia, a novel association not previously documented.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.

In this case report, a 33-year-old male with symptoms resembling Neuromyelitis Optica was treated with 10 mg biotin daily, which may reverse certain ophthalmologic and myelopathy findings. The researchers emphasize the need for further research on biotinidase deficiency in patients misdiagnosed with similar conditions.

This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.

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 case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.

This article discusses a case study supporting the reclassification of KID syndrome as an ectodermal dysplasia, introducing a potential treatment combination that may alleviate symptoms in affected patients.

This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.

This report describes the first documented case of cutaneous asthenia in a crossbred spayed cat from Turkey, characterized by hyperelastic skin, alopecia, and an ulcerative wound.

This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

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

This study describes Pseudopelade of Brocq as a rare and enigmatic scarring alopecia characterized by irregular hair loss patterns on the scalp, requiring exclusion of other conditions like lichen planopilaris and discoid lupus erythematosus for a specific diagnosis.

This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.

This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.

This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.

This letter to the editor documents a case where chronic inflammatory demyelinating polyneuropathy is associated with alopecia totalis and Sjögren syndrome, but reports no new clinical findings.

This case report examines a 10-year-old girl with Satoyoshi Syndrome, highlighting the challenges in diagnosing and managing this rare autoimmune disorder.

This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.

This article reviews the condition plica neuropathica, including its manifestations, potential causes, and treatment, but it does not provide new clinical findings.

This case report describes a 9-month-old male infant with Netherton syndrome, highlighting the importance of early diagnosis and treatment initiation for better management of symptoms and prevention of misdiagnosis.

This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.