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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 study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

This study found that certain C57BL/6 mouse substrains have a genetic vulnerability to skin lesions resembling central centrifugal cicatrical alopecia in humans, potentially worsened by high vitamin A levels.

The ZIP13 variant is linked to abnormal hair quality.

This review discusses the skin and systemic conditions associated with Down syndrome and reports no new clinical results, emphasizing the need for awareness of these manifestations in diagnosis.

This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.

This study reports the first documented case of Cronkhite-Canada syndrome in a patient with myelodysplastic syndrome, where corticosteroids dramatically improved the patient's condition.

This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

This study established a murine chronic graft-versus-host disease model with scleroderma features, showing typical skin changes and cellular infiltrates associated with the condition.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

In this study, researchers explored the dermatologic manifestations of celiac disease in children, highlighting dermatitis herpetiformis and other common skin conditions, and concluded that early recognition and management with a gluten-free diet and possible pharmacological interventions enhance outcomes.

In this study, researchers developed a mouse model of scarring alopecia and observed significant reductions in CD200R expression in affected skin, potentially linking this signaling pathway to immune attacks on hair follicles and suggesting new treatment targets for scarring hair loss.

In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

S-1 treatment led to a complete response in pancreatic cancer with manageable side effects.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.

In this study, three cases of Cronkhite-Canada syndrome revealed small bowel mucosal lesions, but these findings did not correlate with clinical symptoms or steroid treatment outcomes.

This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

In this report, a 54-year-old woman with familial dyskeratotic comedones showed slight improvement in skin lesions after topical retinoids and urea cream. This source also describes the first dermoscopic findings for this condition and reviews 21 previous cases.