research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
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630-660 / 1000+ results research Comparison of the acute ultraviolet photoresponse in congenic albino hairless C57BL /6J mice relative to outbred SKH 1 hairless mice
B6.Cg-Tyr c−2J Hr hr /J mice have a stronger delayed sunburn reaction and are good for UV research.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Clinical Snippets
Increased pigmentation may protect skin from UVB, new targets for skin disease treatments were identified, sunscreen ingredients don't affect hormones, TNF-α inhibitors may help diabetic wounds, and certain treatments could prevent chemotherapy-induced hair loss.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis
Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
research 463 Spatial transcriptomics reveals an inflammatory profile in photoexposed light skin, which is absent in dark skin
Light skin shows more inflammation from sun exposure than dark skin.
research Plerixafor Biases CXCR4 Signaling Through β-Arrestin to Promote Melanogenesis via β-Catenin–MITF Activation
Plerixafor may help treat pigmentation disorders by promoting skin repigmentation.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Two Cases of Hypertrichosis Cubiti
Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
research Repigmentation of Leukoderma by Minigrafts of Normally Pigmented, Autologous Skin
Transplanting small skin grafts can successfully repigment leukoderma.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].
Antifungal treatment can improve severe skin infections with cutaneous horns.
research Hipertricose generalizada exuberante em um lactente: relato de caso
An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
research Reversible hyperpigmentation of skin and nails with white hair due to vitamin B12 deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which can be reversed with treatment.
research Hair Follicle Pigmentation
Hair color is determined by melanin produced and transferred in hair follicles.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Activity evaluation of epidermo-melanin unit and dermal damage in melasma
Melasma results from changes in the skin's pigment and structure, not just pigment cell growth.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Phenotypic and Endotypic Determinants of Atopic Dermatitis Severity From the Atopic Dermatitis Research Network (ADRN) Registry
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Poliosis circumscripta: Overview and underlying causes
Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.
research Clinical Snippets
Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
research Role of Dermal Melanocytes in Cutaneous Pigmentation of Stasis Dermatitis
Melanin and melanocytes contribute to the brown pigmentation in stasis dermatitis.
research Tumor suppressor identity can contribute to heterogeneity of phenotype in hair follicle stem cell‐induced squamous cell carcinoma
The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.