research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
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630-660 / 1000+ resultsresearch Heterotypic cell contacts and basal lamina morphology during hair follicle development in the mouse: a light, scanning, and electron microscopic study at the site of tissue interaction
Heterotypic cell contacts likely help hair matrix cells differentiate during mouse hair follicle development.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Hematological, biochemical, and antioxidant status in sheep with skin disorders suffering from zinc, copper, and vitamin A deficiencies
Zinc, copper, and vitamin A deficiencies cause skin disorders in sheep.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Severe lupus vasculitic neuropathy
Correct diagnosis and treatment of lupus vasculitis improved the woman's severe symptoms.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research The medusa head: Dermoscopic diagnosis of woolly hair syndrome
A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Hair disorders associated with autoimmune connective tissue diseases
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Dermoscopy and Trichoscopy in Dermatomyositis—A Cross-Sectional Study
Dermoscopy and trichoscopy are useful for diagnosing skin signs in Dermatomyositis.
research THE METROPOLITAN DERMATOLOGICAL SOCIETY OF LOS ANGELES
A 42-year-old woman had a scalp lesion that didn't cause hair loss and showed specific changes under a microscope.
research A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the α3 subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Reviewer #3 (Public Review): Spatiotemporal dynamics of sensory neuron and Merkel-cell remodeling are decoupled during epidermal homeostasis
Sensory neuron changes and Merkel-cell changes in the skin happen independently during normal skin maintenance.
research Morphologic Markers of Acute and Chronic Stress in Child Abuse
The conclusion is that certain physical signs in the body can indicate past acute and chronic stress, which may help in child abuse investigations.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Plica Neuropathica as a Presenting Rare Dermatologic Symptom of Schizophrenia
Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research Dendritic cell migrations involving the pilosebaceous unit in the development of murine skin
Dendritic cells help regulate skin development and hair growth in mice.
research 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia
Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research A Rare association of Mauriac syndrome and Van-Wyk Grumbach syndrome found in a young Saudi girl with poorly controlled type 1 Diabetes and Hypothyroidism: A Case Report and Brief literature review
A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.