research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
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840-870 / 1000+ results research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Skin features in myotonic dystrophy type 1: An observational study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research A guide to diagnosis and management of hypertrichosis
Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research Post-tyrosinase Inhibition of Melanogenesis by Melatonin in Hair Follicles in Vitro
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Case 1: Clitoromegaly, Oligomenorrhea, and Hirsutism in a 17-year-old Transgender Male
Parental support and gender-affirming care are crucial for the mental health of transgender adolescents.
research TELOGEN EFFLUVIUM: AN ETIOPATHOGENETIC THEORY
The paper suggests that telogen effluvium, a type of hair loss, may be a long-lasting condition triggered by stress or illness in people whose hair growth is unusually synchronized.
research Trichotillomania in Childhood: A Sign of Emotional Distress
Trichotillomania in children is a sign of emotional distress needing tailored treatment and family support.
research PIGMENTATION AND HAIR GROWTH IN BLACK RATS, AS MODIFIED BY THE CHRONIC ADMINISTRATION OF THIOUREA, PHENYL THIOUREA AND ALPHA-NAPHTHYL THIOUREA1
Thiourea compounds affect hair growth and pigmentation in black rats.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research On Telogen Effluvium
Telogen effluvium is a common hair loss condition requiring careful diagnosis and treatment.
research Trichotillomania
Trichotillomania is a challenging-to-treat impulse-control disorder where individuals pull out their hair, more common in females, with some treatments showing benefits.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research THYROID DISORDER AMONG LEAN AND OBESE POLYCYSTIC OVARY SYNDROME PHENOTYPES
Women with PCOS, especially if they are obese, are more likely to have an underactive thyroid than women without PCOS.
research Microphthalmic-associated transcription factor integrates melanocyte biology and melanoma progression.
Mitf plays a key role in melanoma progression and is linked to disease stage.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Trichotillomania Across the Life Span
Trichotillomania is a chronic hair-pulling disorder that starts in early teens and causes distress and hair loss.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.