research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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research Eyebrow reconstruction in dormant keratosis pilaris atrophicans
Eyebrow reconstruction using hair follicle grafts was successful in a man with a benign hereditary disorder affecting his eyebrows.
research Common genetic hair shaft abnormalities may be visualized by light and electron microscope
Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Reflectance confocal microscopy can differentiate dermoscopic white dots of the scalp between sweat gland ducts or follicular infundibulum
Reflectance confocal microscopy can tell apart white dots on the scalp as either sweat gland ducts or hair follicle openings.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Increased risk of alopecia areata in patients with autism spectrum disorders: A Korean nationwide population-based study
People with autism are more likely to develop alopecia areata than those without autism.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research Retinoic Acid and Mouse Skin Morphogenesis. I. Expression Pattern of Retinoic Acid Receptor Genes During Hair Vibrissa Follicle, Plantar, and Nasal Gland Development
research Reflection confocal microscope characteristics of rose acne and some thoughts caused by it
Skin CT can help diagnose rosacea by identifying specific skin features, but should be used with clinical signs to avoid misdiagnosis.
research Rare Association of Congenital Triangular Alopecia with Vitiligo
Congenital triangular alopecia and vitiligo can occur together, but treatment for one may not affect the other.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Focal perifollicular mucinosis of the eyelid presenting as a benign nevus
A rare skin condition was misdiagnosed as a harmless mole on a woman's eyelid.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research PCOD-Management of ACNE
Acne in PCOS can be managed with specific treatment strategies.
research Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study
Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
research ‘Follicular Swiss cheese’ pattern–another histopathologic clue to alopecia areata
The study concluded that a 'Swiss cheese' pattern in hair follicles is a useful sign for diagnosing alopecia areata.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Acquired Idiopathic Generalized Anhidrosis and Frontal Fibrosing Alopecia: Possible Evidence for a Shared Autoimmune Pathogenesis
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Acne Vulgaris
The document says that early treatment of Acne Vulgaris is important to prevent scarring and that adult onset acne is common in women, often due to hormonal imbalances.
research Flushing episodes in the context of frontal fibrosing alopecia with facial papules
A woman thought to have rosacea was actually suffering from Frontal Fibrosing Alopecia, a hair loss condition. Despite treatment, her condition didn't change, showing the importance of accurate early diagnosis.
research A pair of transmembrane receptors essential for the retention and pigmentation of hair
Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
research Pili trianguli et canaliculi as a phenotypic subtype in patients with central centrifugal cicatricial alopecia: A scanning electron microscopy study
Hair shaft changes may be linked to CCCA, but their role is unclear.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Acne Necrotica in Its Entirety: When It Starts, and After It Evolves
Acne necrotica can be effectively treated with topical cream and antibiotics.
research When the algorithm fails and experience wins: An extraordinary trichoscopic case
Thorough hair examination is crucial for accurate diagnosis and treatment.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.