research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
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870-900 / 1000+ resultsresearch Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Clinical characteristics in Taiwanese women with polycystic ovary syndrome
Taiwanese women with PCOS experience different symptoms based on age, with younger women facing more hormone imbalances and older women dealing with more metabolic issues.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women
Male relatives of women with PCOS show similar health issues, suggesting a male version of the condition.
research The Polycystic Ovary Syndrome - Challenges and Opportunities in Adolescent Medicine
Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
research A 3-Year-Old Girl with Thin Hair
The girl's thin hair was due to loose anagen syndrome, not other hair loss types.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research Diabetes Mellitus and Polycystic Ovary Syndrome: Beyond A Dermatological Problem
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research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Loose Anagen Syndrome
Loose anagen syndrome causes easy hair shedding in children, often resolving on its own.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study
Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
research Prevalence of various phenotypes of polycystic ovarian syndrome among high school girls of Shiraz (2009)
Early investigation of PCOS in high school girls is necessary due to associated risks and side effects.
research Polycystic Ovary Syndrome – Support and Prevention in Adolescence
Adolescents with PCOS need tailored diagnosis and support, including lifestyle advice and managing related health issues.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Rare steroid cell tumor found in region North Brazil: case report
A rare ovarian tumor was diagnosed in a woman from North Brazil, and surgery is the preferred treatment.
research Hair That Is Difficult to Manage in a Hispanic Girl
A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
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 Alopecia areata and Down syndrome: A true association and the importance of dermoscopic diagnosis
People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
research Comparison of Levels of Androgenic Hormones in various Phenotypes of Polycystic Ovarian Syndrome in High School Girls aging 14 to 18 Years
Girls with PCOS and menstrual disorders have notably higher androgen hormone levels.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
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 POLYCYSTIC OVARY SYNDROME (PCOS): DIAGNOSIS, PATHOPHYSIOLOGY AND CONTEMPORARY THERAPEUTIC APPROACHES
Early diagnosis and personalized treatment are crucial for managing PCOS and preventing complications.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
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.