research Misdiagnosed dermatophytosis
Misdiagnosed skin infections led to ineffective treatments and serious complications.
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900-930 / 1000+ resultsresearch Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Targeted expression of activated erbB-2 to the epidermis of transgenic mice elicits striking developmental abnormalities in the epidermis and hair follicles.
Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
research Giant folliculosebaceous cystic hamartoma
A 15-year-old boy had a rare skin growth on his buttock.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research A rare case of pigmented nodular alopecic lesion on the scalp
A man had a rare pigmented nodule on his scalp that developed from birthmarks.
research Functional analysis of thymosin beta-4 using over-expressing transgenic mice
Melanoma cells lose their ability to form tumors when placed in a zebrafish embryo environment.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Spiny mice ( Acomys ) have evolved cellular features to support regenerative healing
Spiny mice can regenerate tissues instead of forming scars.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Faculty Opinions recommendation of Bone morphogenetic protein antagonist noggin promotes skin tumorigenesis via stimulation of the Wnt and Shh signaling pathways.
Noggin promotes skin tumors by activating Wnt and Shh pathways.
research Familial aggregation of phenotypic expression of premature hair hypopigmentation in the craniofacial region
Premature hair graying in the face may be influenced by genetics and environment.
research A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"
A 4-year-old girl has a rare hair condition causing fragile, short hair.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Warfare-Related Craniectomy Defect Reconstruction: Early Success Using Custom Alloplast Implants
Custom-designed implants effectively repaired skull damage in most soldiers injured in combat.
research Never events in plastic surgery: An analysis of surgical burns and medical malpractice litigation
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research To grow or not to grow: Hair morphogenesis and human genetic hair disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis in noggin-overexpressing mice
Overexpressing noggin in mice causes severe osteoporosis.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Fibromodulin-Deficiency Alters Temporospatial Expression Patterns of Transforming Growth Factor-β Ligands and Receptors during Adult Mouse Skin Wound Healing
Mice lacking fibromodulin have disrupted healing patterns, leading to abnormal skin repair and scarring.
research Differential Expression of Fibromodulin, a Transforming Growth Factor-β Modulator, in Fetal Skin Development and Scarless Repair
Fibromodulin might help reduce scarring if increased in adult wounds like in fetal skin that heals without scars.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Data from Elevated Cutaneous Smad Activation Associates with Enhanced Skin Tumor Susceptibility in Organ Transplant Recipients
Higher TGF-β signaling may increase skin cancer risk in organ transplant recipients.