research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
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120-150 / 1000+ resultsresearch Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Involvement of the Edar Signaling in the Control of Hair Follicle Involution (Catagen)
Edar signaling is crucial for controlling hair growth and regression.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research CtBP1 Overexpression in Keratinocytes Perturbs Skin Homeostasis
Overexpressing CtBP1 in skin cells causes skin and hair problems.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Molecular mechanism for transcriptional regulation of the parathyroid hormone gene by Epiprofin
Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
research Atrichia with papular lesions mimicking alopecia areata universalis
The man's hair loss and skin papules were diagnosed as atrichia with papular lesions, not alopecia areata universalis.
research Impaired wound healing in transgenic mice overexpressing the activin antagonist follistatin in the epidermis
Overexpressing follistatin in mice delays wound healing and reduces scar size.
research Dlx3 is a crucial regulator of hair follicle differentiation and cycling
Dlx3 is essential for hair growth and regeneration.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Edar Signaling in the Control of Hair Follicle Development
Edar signaling is crucial for proper hair follicle development and function.
research Requirement of zinc transporter ZIP10 for epidermal development: Implication of the ZIP10–p63 axis in epithelial homeostasis
ZIP10 is crucial for skin development and maintaining healthy skin.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene
Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
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 A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Ptch2 is a Potential Regulator of Mesenchymal Stem Cells
Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.