research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
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120-150 / 1000+ resultsresearch Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Voice changes in reproductive disorders, thyroid disorders and diabetes: a review
People with reproductive, thyroid disorders, and type 2 diabetes can experience voice changes, but more research is needed to understand this better.
research Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice
Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis
Hedgehog signaling is essential for normal sebaceous gland development and affects keratin 6a expression.
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 Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue
A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
research Unruly hair
The document concludes that unruly hair can be congenital or acquired, often lacks specific treatments, and can be managed with oils and short hairstyles.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research Adult Patients with Aphallia: Were they Fertile?
The document does not determine if adults with aphallia are fertile.
research Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
research Hair Shaft Abnormalities – Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Hair loss and its management in children
The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
research Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
research Plastic Surgical Considerations in Pediatric Dermatologic Abnormalities
Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
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 Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.