research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
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research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Factors affecting the development of alopecia areata in children
Managing alopecia areata in children needs a personalized approach considering genetic, immune, and environmental factors.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research 유전성 안드로겐탈모증의 임상적 고찰(제6보)
Androgenetic alopecia is more common in men, linked to genetics and androgen levels, but routine pelvic ultrasound isn't recommended.
research Polycystic ovary syndrome: etiology, pathogenesis and diagnosis
The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.
research Developmental origin of polycystic ovary syndrome - a hypothesis
The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
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 Disorders linked to insufficient androgen action in male children
Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Acquired scalp alopecia. Part II: A review
Early diagnosis and treatment are crucial for preventing permanent hair loss in various scalp conditions, and while new treatments are promising, more research is needed to evaluate their effectiveness.
research Androgenic Alopecia
Androgenic Alopecia, a common hair loss condition, can be effectively treated with finasteride and other treatments.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Acne Tarda and Male-Pattern Baldness Unmasking Primary Ovarian Insufficiency: A Case and Review
A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.
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 NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Hair loss in women
Women's hair loss can be due to hormonal changes and various conditions, with treatments focusing on stopping progression and managing symptoms.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research 268 Male-pattern baldness and its association with coronary heart disease
Male-pattern baldness has a weak link to heart disease and some related health conditions.
research Eating disorders
Eating disorders are serious, often undiagnosed conditions requiring early treatment, with anorexia being the most deadly and binge-eating the most treatable.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.