research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
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60-90 / 1000+ resultsresearch 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 Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
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 Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
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 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 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 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
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 Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research A case of temporal triangular alopecia
A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
research Diseases of Periocular Hair
The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
research Disorders of the Hair and Nails
The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
research Eyelash trichomegaly: review of congenital, acquired, and drug‐associated etiologies for elongation of the eyelashes
The document concludes that eyelash trichomegaly, which is the abnormal growth of eyelashes, can be present from birth, caused by diseases, or result from certain medications.
research Dermatoscopy of hair shaft disorders
Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Hair Shaft Fracture in a Young Athlete: A Rare Case Report of Acquired Trichorrhexis Nodosa
A young athlete's fragile hair condition improved by cutting hair and using gentle shampoo.
research Psychotrichology: psychosomatic aspects of hair diseases
Hair diseases can have psychological effects and should be treated with a combination of psychosomatic care, therapy, and medication.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
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.
research Superficial temporal artery flap for reconstruction of complex facial defects: A new algorithm
The superficial temporal artery flap is a reliable method for reconstructing complex facial defects with minimal complications.
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 A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
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 Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Madarosis
Madarosis is the loss of eyelashes and eyebrows due to various health issues and requires thorough examination to diagnose and treat the underlying cause.