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Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This review highlights the increasing global incidence and broad socio-economic impact of celiac disease, emphasizing the need for improved recognition and management to address its multidimensional implications, including comorbidities and dietary challenges.

This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.

This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.

This article discusses topical and intralesional cidofovir use for SCC and suggests a successful outcome in one case, with no systemic toxicity observed so far.

This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.

This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This case report describes a 54-year-old woman with familial dyskeratotic comedones who experienced slight improvement in her skin lesions after three months of treatment with topical retinoids and urea cream.

This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.

This study found that a high percentage of pediatric sickle cell disease patients have parents from medium-high socioeconomic status, indicating that the educational background of parents did not influence the disease's prevalence.

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This review discusses dissecting cellulitis of the scalp and reports no new clinical findings.

This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.

This study suggests that central centrifugal cicatricial alopecia may involve a CD4-predominant T-cell process with potential PD1/PDL1 pathway involvement, indicated by increased caspase 3 expression and loss of PDL1.

This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.

The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.

This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.

This observational study concluded that anti-Ku antibodies do not specifically indicate any systemic autoimmune disease or associated clinical phenotype.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This study found that mice lacking syndecan-1 experienced cold stress and metabolic issues due to reduced intradermal fat, which was restored by thermoneutral housing or rosiglitazone treatment.

This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.

This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.

This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.