research Common Pediatric Skin Conditions with Protracted Courses
Some new treatments for children's skin conditions are effective, but risks must be weighed.
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600-630 / 1000+ resultsresearch A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Alopecia areata in Down syndrome: a clinical evaluation
People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
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 Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Hair Shaft Dysplasias
Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research ALOPECIA CIRCUMSCRIPTA DUE TO VITAMIN A DEFICIENCY
Alopecia in the woman was likely caused by vitamin A deficiency, not a fungal infection.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Keratosis Follicularis
Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
research Alopecias
Different types of alopecia in children require specific diagnoses and treatments.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research Giant congenital cerebriform pigmented nevus of scalp: case report
Complete removal of large scalp nevi is recommended to prevent complications.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
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 Disorders of pigmentation in infants and children
Vitiligo causes white skin patches, often starts before age 20, and is linked to other health issues.
research P‐35 Nonlethal junctional epidermolysis bullosa in a dog
A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Distinguishing histopathologic features of acantholytic dermatoses and the pattern of acantholytic hypergranulosis
Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
research Lichen Spinulosus: Case Report and Review of Literatures
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
research Novel D323G mutation of DSG 4 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 Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Pruritic axillary papules in a 14‐year‐old girl
The girl's itchy armpit and pubic lesions didn't improve with antifungal cream.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.