research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
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research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research PCOS:Hindsgavl gynækologisk guideline
The guideline offers recommendations for diagnosing and managing PCOS and its complications.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Alopecia triangularis congenita in combination with androgenetic alopecia
Hair loss improved with treatment and successful transplant.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Trichodaganomania: A Curious Habit
Trichodaganomania involves biting one's hair and needs combined psychological and medical treatment.
research Psychological features of androgenetic alopecia1
Women with hair loss often feel depressed, while men are more anxious and aggressive.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research SAT320 Cyclic Cushing Syndrome Caused By An ACTH-Producing Pheochromocytoma
A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Evaluation of the role of soluble receptors for advanced glycosylated end-products in polycystic ovarian syndrome
Women with PCOS had higher SRAGE levels, possibly linked to BMI, not PCOS.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research KERION MICROSPORICUM WITH HEMATOGENOUS AND ECTOGENOUS MICROSPORIDS
A rare scalp infection in a child developed into a kerion with additional skin symptoms.
research Dermatologic manifestations of endocrine disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research Combination of metformin with liraglutide in treating HAIR-AN syndrome in children: A case report and literature review.
Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
research Case Report: Triple autoimmune overlap: rheumatoid arthritis, systemic lupus erythematosus, and hypereosinophilic asthma with systemic manifestations
Timely treatment of eosinophilic asthma in rheumatic disease patients can prevent organ damage.
research Apparent Cortisone Reductase Deficiency: A Rare Cause of Hyperandrogenemia and Hypercortisolism
Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
research Primary cicatricial alopecia associated with systemic indolent mastocytosis
Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Pancreatogenic type 3C diabetes
Type 3C diabetes is a distinct condition needing more research and treatment strategies.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.