research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
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390-420 / 1000+ resultsresearch A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Under-diagnosed psychiatric syndrome. I: Trichotillomania.
Trichotillomania is a chronic condition where people uncontrollably pull out their hair, often starting in childhood.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Updates on Trichodysplasia Spinulosa Disease
Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Iatrogenic cushing’s syndrome post intralesional triamcinolone acetonide in oral submucous fibrosis: 2 case reports
Two patients treated with TAC for mouth fibrosis improved but developed Cushing's Syndrome symptoms.
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 Searching for a Lead: Diagnosing a Rare Cause of Recurrent Intussusception
A trichobezoar caused the girl's recurrent intussusception, and surgery plus psychiatric therapy resolved her symptoms.
research Act Fast With Traction Alopecia to Avoid Permanent Hair Loss
Act quickly to prevent permanent hair loss from tight hairstyles.
research Effects of Testosterone+Finasteride On Muscle After Spinal Cord Injury: A Randomized Double-Blind, Placebo-Controlled Pilot Study
Testosterone and finasteride improve muscle strength and size after spinal cord injury.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research Multipotent hair follicle stem cells promote repair of spinal cord injury and recovery of walking function
Hair follicle stem cells can help repair spinal cord injuries and improve walking.
research Extensive Traction Alopecia Attributable to Ponytail Hairstyle and Its Treatment with Hair Transplantation
Hair transplantation successfully treated a woman's hair loss caused by a tight ponytail.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
research Prevention of Frey syndrome with superficial temporal fascia interpositioning: a retrospective study
Using superficial temporal fascia helps prevent Frey syndrome after parotid surgery.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research A 25-year-old female with a variable presentation of MCTD-A case report
Careful diagnosis and management of MCTD are crucial due to potential severe complications.
research All hairstyles are not created equal: What the dermatologist needs to know about black hairstyling practices and the risk of traction alopecia (TA)
Certain black hairstyling practices increase the risk of traction alopecia, requiring better management and education.
research Case Report: ACTH- and CRH-secreting pheochromocytoma as a very rare cause of ectopic Cushing syndrome
A rare tumor caused unusual hormone production leading to Cushing syndrome.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.