research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
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research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
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 SAT320 Cyclic Cushing Syndrome Caused By An ACTH-Producing Pheochromocytoma
A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Direct Brow Lift After Mohs-Induced Temporal Nerve Transection
A direct brow lift can effectively fix nerve damage and improve appearance after surgery.
research Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research Positive Jacquet's sign in traction alopecia
Recognizing Jacquet's sign helps diagnose and treat traction alopecia accurately.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research A case of pili torti in a young adult domestic short-haired cat
A young cat had a rare hair condition with twisted hair shafts but stayed healthy.
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 Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Pituitary Macroprolactinoma with Mildly Elevated Serum Prolactin: Hook Effect.
The man's symptoms improved and the tumor shrank after treatment with cabergoline.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research A case of twenty nail dystrophy affecting a 12 year old boy
A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Trichotillomania
Trichotillomania is a chronic hair-pulling disorder, more common in females, treated with therapy and sometimes medication.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Tractional alopecia
Changing hairstyles can prevent hair loss caused by tension.
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 A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research NEUROMA DE NERVO RADIAL APÓS CORREÇÃO CIRÚRGICA DA LESÃO SECUNDÁRIA DE FRATURA DIAFISÁRIA DE ÚMERO
Surgery to fix a broken upper arm bone can sometimes lead to nerve damage.
research Muscle weakness of the lower limbs after epidural anesthesia in a pregnant woman with undiscovered systemic lupus erythematosus
Undiagnosed lupus can cause severe complications after epidural anesthesia, leading to muscle weakness and potentially death.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
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.
