research Severe cardiac conduction abnormalities associated with atypical toxic shock syndrome
A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
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330-360 / 1000+ results research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research Multiple Pilomatrixoma in Turner Syndrome
Multiple pilomatrixoma may indicate Turner syndrome.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Hair Tourniquet Syndrome Involving the Uvula Secondary to an Airway Foreign Body
Prompt diagnosis and treatment of hair tourniquet syndrome involving the uvula are crucial to prevent severe complications.
research Is Satoyoshi syndrome an autoimmune disease? A systematic review
Satoyoshi syndrome is likely an autoimmune disease.
research Trichoscopic findings of trichotillomania: new observations
Trichoscopy is useful for diagnosing hair-pulling disorder.
research Tangled
A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
research Palmoplantar pustulosis–like eruption following tofacitinib therapy for juvenile idiopathic arthritis
Tofacitinib can cause skin eruptions similar to palmoplantar pustulosis.
research Trichotillomania, Trichophagia and Trichobezoar in a Male Paediatric Patient: A Case Report and Literature Review
An 11-year-old boy with hair-eating habits needed surgery and psychiatric help.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
Hairy elbows may be linked to short stature, but the exact cause is unclear.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
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 Congenital triangular alopecia: A close mimicker of alopecia areata
CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
research Weathering of hair in trichoteiromania
Her hair grew back normally after she stopped rubbing it.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research 5155 Benign Paroxysmal Positional Vertigo as a Potential Manifestation of Hypothyroidism, a Case Report
Hypothyroidism may cause vertigo symptoms like BPPV.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Unusual loss of body hair in childhood: Trichotillomania or alopecia
Proper diagnosis and treatment of childhood hair loss require distinguishing between alopecia and trichotillomania.
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 Traumatic Anserine Folliculosis: A Case Report With Review of Differential Diagnosis
Traumatic anserine folliculosis is a harmless skin condition in young males that needs correct diagnosis to avoid unnecessary treatments.
research Children with trichotillomania in COVID‐19 outbreak
More children are showing signs of hair-pulling disorders during the COVID-19 pandemic due to stress and lack of social interaction.
research Incidence of trichostasis spinulosa at a single institution in Yemen
Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.
research Don't miss this blue toe: Hair tourniquet syndrome
Early diagnosis of hair tourniquet syndrome saved a baby's toe from being lost.
research Trichotillomania: a good response to treatment with N-acetylcysteine
N-acetylcysteine effectively treats trichotillomania.
research Body-focused repetitive behaviors and the dermatology patient
Skin and hair-picking disorders are common and need both skin and mental health treatments.