research Scalp basal cell carcinoma: A different entity?
Scalp basal cell carcinoma may be more aggressive and harder to treat than other types, requiring special attention and further research.
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research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Dermoscopy of scalp tumours: a multi‐centre study conducted by the international dermoscopy society
The study concluded that scalp tumors show different patterns based on age, gender, and tumor thickness, and emphasized the importance of early detection and scalp examinations.
research Field melanin mapping of the hairless scalp
The study found a specific pattern of uneven melanin distribution on balding scalps that could help understand skin diseases caused by light exposure.
research Cellular and Immunological Aspects of Basel Cell Carcinoma
Basal cell carcinoma cases are rising globally.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Pathologic Quiz Case: An 84-Year-Old Woman With a Skin Cyst Containing Ziehl-Neelsen–Positive Structures
Basal cell carcinoma may originate from vellus hair cysts.
research [Basal cell carcinomas of the scalp. Review of 77 patients with 81 tumors].
The review found that basal cell carcinomas on the scalp are not more aggressive than those in other locations.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research 877 Loss of UBE2N in keratinocytes leads to skin inflammation and immune infiltration through IRAK1/4-mediated processes
Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research A Classic Presentation of Acne Keloidalis Nuchae in a Black Male
Acne keloidalis nuchae causes scarring on the scalp, mainly in African American males, and early treatment is important to prevent lasting damage.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research A case of trichogerminoma: a rare cutaneous follicular neoplasm
Trichogerminoma is a rare, benign skin tumor from hair cells, with a small risk of becoming cancerous.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations
Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Advancing the Understanding and Management of Segmental Vitiligo and Co‐Existing Pigmentary Disorders
Better diagnostic tools and treatment guidelines are needed for segmental vitiligo and related pigment issues.