research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
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780-810 / 1000+ results research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Graham-Little Syndrome — a rare entity of both scarring and non-scarring alopecia concomitance
Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Investigation of parental socioeconomic status as a determinant of dietary habits and disease severity of sickle cell disease children
Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
research Seventy‐MHz Ultrasound Detection of Early Signs Linked to the Severity, Patterns of Keratin Fragmentation, and Mechanisms of Generation of Collections and Tunnels in Hidradenitis Suppurativa
Ultrasound can help detect early signs and severity of hidradenitis suppurativa.
research Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation.
KFSD causes scarring hair loss and skin roughness, mainly in males.
research Hirsutism and virilisation.
Hirsutism is common body hair growth due to genetics and hormones, and while not a disease, it can be distressing; virilisation includes hirsutism with other male traits and needs medical attention.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Dizziness and rash in an HIV positive man
The man likely has secondary syphilis affecting his nervous system.
research Hypertension and Cicatricial Hair Loss: Defining High Value Symptom Clusters within Reproductive Aging
Women with cicatricial hair loss may have a higher risk of hypertension.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.
research Health-related quality of life and psychological distress in polycystic ovary syndrome: a hidden facet in South Asian women
South Asian women with PCOS experience more psychological distress and have a poorer quality of life, especially in social relationships, with hirsutism affecting them more than obesity.
research Cells to Surgery Quiz: April 2020
Certain surgical methods are better than routine incision for hidradenitis suppurativa, topical clindamycin and acitretin are effective treatments, men with HS have a risk of skin cancer, HS patients are more likely to die from heart problems, and specific genetic markers are linked to treatment response.
research Does a male polycystic ovarian syndrome equivalent exist?
Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research The Handbook of School Health
Early diagnosis and treatment with biotin are crucial for preventing severe outcomes in certain conditions.
research Lipodermatosclerosis: a postphiebitic syndrome
The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
research Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
research The articulations of Adam's rib with the lower urinary tract
The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
research HIRSUTISM
The document explains that hirsutism, often caused by hormonal issues, can be managed with treatment to improve both physical appearance and mental health.
research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation
The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.