research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
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research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Trichotillomania Across Circuits: Neurobiology, Sensory Processing, and Genetic Insights
Trichotillomania treatment is improving with new therapies, but challenges like stigma and lack of training remain.
research A Case of Pityriasis Rubra Pilaris Associated with Myasthenia Gravis
Pityriasis rubra pilaris can occur with myasthenia gravis.
research Under-diagnosed psychiatric syndrome. I: Trichotillomania.
Trichotillomania is a chronic condition where people uncontrollably pull out their hair, often starting in childhood.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research LOSING SIGHT OF THE DIAGNOSIS: A CASE REPORT OF NEUROMYELITIS OPTICA SPECTRUM DISEASE AND SYSTEMIC LUPUS ERYTHEMATOSUS-NEUROAUTOIMMUNITY IN FOCUS, CORRELATION OR COINCIDENCE?
Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research Trichotillomania Across Circuits: Neurobiology, Sensory Processing, and Genetic Insights
Trichotillomania involves hair-pulling due to brain and genetic factors, with behavior therapy and new drugs showing promise, but challenges like stigma and underdiagnosis persist.
research Trichotillomania as a Manifestation of Dementia
Trichotillomania in dementia may be better treated with dopamine blockers like quetiapine than with SSRIs.
research Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
research Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
An 18-year-old girl was diagnosed with a rare hereditary hair loss condition, despite no family history.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research [A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].
Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research Two Cases of Hypertrichosis Cubiti
Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Trichotillomania: Neurobiology and treatment
Trichotillomania involves hair pulling and can be treated with therapy and medication.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.