research Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids
The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
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research Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia
Minoxidil cream can safely treat hair loss in kids with ectodermal dysplasia.
research Ectopic Expression of the nude Gene Induces Hyperproliferation and Defects in Differentiation: Implications for the Self-Renewal of Cutaneous Epithelia
The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Dermoscopy to the rescue
Dermoscopy helps accurately diagnose and treat benign skin cysts.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research The ultrastructure of the interfollicular epidermis of the hairless (hr/hr) mouse
research 708 Polycomb-mediated repression and Sonic hedgehog signaling regulate Merkel cell specification
Sonic hedgehog signaling is needed for the development of touch-receptor cells in the skin, and the loss of Polycomb repressive complex 2 can lead to more of these cells.
research Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
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.
research Familial Pure Hair–Nail Ectodermal Dysplasia in Yemen: A Father–Son Case Report with Clinical Correlation
A father and son in Yemen have a genetic condition causing hair loss and nail problems.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research Abstract LB-039: Chronic inflammation-mediated contribution of bone marrow-derived epithelial cells and hair follicle stem cells to development of cutaneous neoplasms
Bone marrow and hair follicle cells help form skin tumors, suggesting new treatment targets.
research Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice
The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Abstract 5020: Characterization of epidermal stem cells in SKH1 hairless mice, a widely used mouse model to investigate ultraviolet radiation carcinogenesis.
SKH1 hairless mice have identifiable epidermal stem cells with specific markers.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Nevus comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research Pathologic Quiz Case: A 69-Year-Old Man With a Brown-Black Facial Papule
A rare benign skin growth called melanocytic matricoma was identified in a 69-year-old man.
research A brief review of the literature on the malignant ureteral obstruction
Managing malignant ureteral obstruction is challenging and requires personalized treatment to protect kidney function and patient health.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.