research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
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660-690 / 1000+ resultsresearch Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Autoimmune gastritis and parietal cell reactivity in two children with abnormal intestinal permeability
Children with autoimmune gastritis showed improved intestinal health over time and should be checked for other autoimmune conditions.
research Hair and scalp disorders
Different hair and scalp disorders cause hair loss or excess hair growth, with various treatments available depending on the specific condition.
research Advances in Vitiligo Treatment
Vitiligo treatment requires a personalized mix of therapies to restore skin color and improve life quality.
research Alopecia Areata
Alopecia areata causes hair loss and needs personalized care to manage its emotional and social effects.
research Dermoscopic Features of Pili Annulati: Features of PA
Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Uncovering novel biomarkers and drug targets for androgenetic alopecia via metabolite regulation and multi-tissue validation
SOD1 and KL are promising targets for new hair loss treatments.
research Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Polycystic ovary syndrome
PCOS is a condition causing irregular periods, excess male hormones, and infertility, often managed by targeting insulin resistance and specific symptoms.
research Hyperadrenocorticism in Ferrets
Hyperadrenocorticism in ferrets is linked to neutering and indoor housing, and is best treated with surgery and a deslorelin implant.
research Síndrome de ovario poliquístico
PCOS is a common disorder in women causing hormonal imbalance and fertility issues, often managed with lifestyle changes and medication.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”
The woman was misdiagnosed with Graves Disease, leading to incorrect treatment, while she actually had Pituitary Resistance to Thyroid Hormone.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research Updates from the British Association of Dermatologists 91st Annual Meeting, 5-7 July 2011, London, U.K.
New treatments and management strategies for skin conditions like melanoma and Spitz naevi were discussed at the dermatologists' meeting.
research Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant
Zinc supplements effectively treat inherited zinc deficiency in infants.
research Male androgenetic alopecia
Male pattern baldness worsens with age and can be treated with medications like minoxidil and finasteride, but side effects and personalized care are important.
research Psoriasis del cuero cabelludo etiología, diagnóstico y tratamiento
Scalp psoriasis is treated with topical therapies, phototherapy, and systemic medications.
research Alopecia Areata - Current and Emerging Therapies
New treatments like JAK inhibitors offer hope for hair regrowth in severe alopecia areata.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research SEBACEOUS ADENITIS IN AKITA DOG – CASE REPORT
A 5-year-old Akita with a rare skin condition improved significantly after treatment.
research Síndrome de ovarios poliquísticos Polycystic ovary syndrome
PCOS is a common condition in women that causes various symptoms and health issues, treatable with lifestyle changes and medication.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.