research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
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research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
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 Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].
Antifungal treatment can improve severe skin infections with cutaneous horns.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research FOCAL HYPERTRICHOSIS DURING TOPICAL TACROLIMUS THERAPY FOR CHILDHOOD VITILIGO
An 8-year-old girl with vitiligo developed extra hair growth on her knee after using tacrolimus ointment.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Concerted gene duplications in the two keratin gene families
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Trichostasis Spinulosa
The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
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 441 Anti-melanoma gene signature in dermal sheath fibroblasts from scalp hair follicles in Recessive Dystrophic Epidermolysis Bullosa (RDEB)
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 Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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 Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Optical coherence tomography-assisted diagnosis of follicular keratosis of the chin
OCT can non-invasively diagnose follicular keratosis and other hair follicle disorders.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.