research Cutaneous sarcoidosis masquerading as papular amyloidosis revealed post--hair removal
Skin problems after waxing led to a sarcoidosis diagnosis.
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research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Precocious Puberty
Early sexual development in children, especially girls, can be treated with hormone therapy to improve adult height and requires support for the child and family.
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 Delayed Puberty
Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Unilateral Thalamic Infarction Associated with Rupture of Dissecting Posterior Cerebral Artery in Childhood-Onset Systemic Lupus Erythematosus: A Case Report
A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Prevention of Frey syndrome with superficial temporal fascia interpositioning: a retrospective study
Using superficial temporal fascia helps prevent Frey syndrome after parotid surgery.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research Association of insulin resistance with polycystic ovary syndrome phenotypes and patients’ characteristics: a cross-sectional study in Iran
Most women with PCOS have insulin resistance, especially those with phenotype B.
research AN OVERVIEW ON POLYCYSTIC OVARIAN SYNDROME
PCOS is a hormonal disorder affecting many women, leading to symptoms like acne and irregular periods, and increasing the risk of diabetes and heart disease.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research LP-155 Psychosis as an early manifestation of neuropsychiatric systemic lupus erythematosus – a case report
Psychosis can be an early sign of neuropsychiatric lupus, treatable with tailored medication.
research Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research The PRIDE (Papulopustules and/or paronychia, Regulatory abnormalities of hair growth, Itching, and Dryness due to Epidermal growth factor receptor inhibitors) syndrome
PRIDE syndrome includes skin and hair issues from cancer treatment with EGFR inhibitors.
research Vitamin D status in polycystic ovary syndrome
People with polycystic ovary syndrome often have low levels of vitamin D.
research Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome
Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Plica neuropathica: Bird's nest under dermatoscope
Plica neuropathica is a tangled hair condition that may be caused by hair damage or psychiatric issues and is treated by cutting the hair and addressing mental health.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx
Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report
Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research AN EXPLORATORY RESEARCH TO UNDERMINE THE KNOWLEDGE RELATED ATTRIBUTES OF POLYCYSTIC OVARY SYNDROME AMONG ADULT FEMALES
Many young women in Pakistan are unaware of their PCOS symptoms.
research A practical guide on Polyendocrine Metabolic Ovarian Syndrome (PMOS) for Clinicians
PMOS requires a comprehensive, long-term approach beyond just ovarian symptoms.