research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
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930-960 / 1000+ resultsresearch Assessment of Health-Related Quality of Life Using PCOSQ Tool, Its Determinants and Coping Mechanisms Used by Women with Polycystic Ovarian Syndrome Attending Multidisciplinary Clinic in Mumbai, India
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research <p>Intraoperative Floppy Iris Syndrome: Updated Perspectives</p>
Certain medications and patient factors increase the risk of Intraoperative Floppy Iris Syndrome during cataract surgery, but with careful planning and technique adjustments, complications can be minimized.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
research Polycystic Ovary Syndrome: Diagnosis and Treatment
PCOS is a common hormonal disorder in women, treated with lifestyle changes and medications like hormonal contraceptives and metformin.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Endocrine effects of long-term calcineurin inhibitor use in solid organ transplant recipients
Long-term use of calcineurin inhibitors in transplant patients can cause hormone issues that can be managed with proper care.
research Optical Coherence Tomography Angiography Findings in Polycystic Ovary Syndrome
Women with PCOS have thicker parafoveal areas in their retinas, but their macular blood vessel density is normal.
research Acanthosis Nigricans during an HAIR-AN syndrome: "The Tree That Hides the Forest"
The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
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 Complicated Trichotillomania of a Trichobezoar about a Clinical Case
Trichotillomania can cause severe complications like hairballs in the stomach, needing surgery and psychiatric care.
research 797 The Development and Management of Neck Burn Scar Contracture Recurrence: A Single-Center Retrospective Cohort Study
Neck burn scar contracture recurrence is more likely with larger neck defects, and closer follow-up can help detect it sooner.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Polycystic ovarian syndrome
PCOS is a common hormonal disorder with symptoms like irregular periods and excess hair growth, managed with lifestyle changes and medications.
research Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinomas start in the skin and hair follicles.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
A person with Werner syndrome was initially thought to just have female pattern hair loss.
research REPRODUCTIVE HORMONE LEVELS AND METABOLIC SYNDROME IN WOMEN WITH POLYCYSTIC OVARY SYNDROME IN SANA'A, YEMEN
PCOS is linked to hormone disorders and issues like infertility and irregular periods.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research A profile of coping skills in patients with polycystic ovarian syndrome
Coping skills in PCOS patients don't significantly affect mental health, quality of life, or body weight.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research ‘Plica neuropathica’: Matting of Hair
A girl's severely tangled hair couldn't be fixed and had to be cut due to a rare condition called plica neuropathica.
research Polycystic Ovary Syndrome: Clinical Presentation, Diagnostic Challenges, and Evolving Management Approaches
Early detection and comprehensive care improve long-term health in PCOS.
research Hair shaft disorders
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
research Das Cushing-Syndrom im Spiegel der Haut
Skin symptoms like fragile skin and easy bruising can indicate Cushing's syndrome, which requires early diagnosis and treatment to prevent serious health issues.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.