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This review found an increased prevalence of common skin disorders, such as infectious and inflammatory conditions, in patients with Down syndrome and highlighted the need for improved screening and management guidelines.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.

This article discusses dissecting cellulitis of the scalp, an uncommon hair condition, and reports no new clinical results; recent terminology adjustments are noted for potential overlaps with other follicular diseases.

This systematic review indicates that patients with Down syndrome have an increased prevalence of various dermatologic disorders, especially infectious, inflammatory, autoimmune, and connective tissue conditions.

This case report describes significant skin and oral mucosa lesions in a 19-year-old patient with cri-du-chat syndrome, highlighting their impact on her nutritional status and quality of life.

This review discusses the characteristics and challenges in treating Cronkhite–Canada syndrome but reports no new clinical findings, emphasizing the need for better understanding and uniform treatment approaches.

This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.

This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.

This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

This case report details a rare instance of granulomatosis disciformis chronica et progressiva affecting both skin and lymph node tissue in a 31-year-old man.

This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.

This paper describes various skin conditions associated with celiac disease and suggests that these dermatological signs might aid in diagnosing the disease, potentially improving with a gluten-free diet.

This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.

A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.

Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.

This case report describes chronic iron deficiency anemia in a patient with Cronkhite-Canada syndrome, highlighting the need for more data to guide treatment and cancer surveillance due to its rarity and mortality risk.

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 study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.

This study found that erosive pustular dermatosis of the scalp is frequently misdiagnosed as squamous cell carcinoma, highlighting the need for careful differentiation to avoid unnecessary treatments.

This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.

This study highlights that dissecting cellulitis of the scalp affects a diverse racial population and is associated with male sex, metabolic dysfunction, and psychiatric comorbidities, challenging its traditional characterization as primarily a disorder of Black men.

This study found that LSD1 is crucial for embryonic skin barrier formation in mice, revealing its significant role in epidermal development and suggesting its potential as a target in skin diseases with barrier defects.

This study explored the relationship between BMI percentiles and clinical severity in pediatric patients with different hemoglobin genotypes, finding significant BMI differences and associations with pain frequency, particularly noting that patients with HbSS experienced more pain than those with HbSC.

This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

In this case report, a 2-year-old boy initially diagnosed with Sweet syndrome was later found to have chronic granulomatous disease, highlighting the importance of considering CGD in unusual cases of Sweet syndrome.