research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
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360-390 / 1000+ results research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
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 Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research sQuiz your knowledge! Anogenital and distal erythema, alopecia, and diarrhoea
CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Surgical approach of ectropion in lamellar ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Congenital hypotrichosis due to short anagen
Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
research Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
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.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Ectopic sebaceous gland: a developmental anomaly
A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Eruptive vellus hair cyst: An uncommon and underdiagnosed entity
Eruptive vellus hair cysts are rare and often misdiagnosed, requiring biopsy for accurate diagnosis.
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 Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
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 Dysfunction of keratinocyte adhesion
Keratinocyte adhesion problems can cause skin and hair disorders.