research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
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450-480 / 1000+ resultsresearch A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Dermatological concerns for women and girls with turner syndrome
Early dermatological referrals are important for women and girls with Turner syndrome to improve life quality.
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 Hair Coil Penile Tourniquet Syndrome in an Unusual Age
An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.
research The fretful child with swollen appendage: Mitten the Insidious
A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research The First Report of Isolated Clitoral Hood Hair-Thread Tourniquet Syndrome: A Study of Six Patients
Early detection and treatment of hair-thread tourniquet syndrome in young girls is important to prevent serious harm.
research Temporal triangular alopecia
A 23-year-old man has a benign, non-progressive hair loss patch that doesn't respond to treatment but can be cosmetically treated.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Tumor necrosis factor-alpha inhibitor associated psoriasiform alopecia (drug-induced psoriasiform alopecia)
Some medications for inflammation can cause a condition with scalp rashes and hair loss, often linked to Crohn's disease, and may require treatment changes to prevent permanent hair loss.
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 Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Co-presentation of Tapia's syndrome and pressure alopecia—A rare event after septorhinoplasty: A case report and literature review
A man developed rare complications after nose surgery, stressing the need for better prevention.
research Case report - hair tourniquet syndrome
Hair tourniquet syndrome can cause serious harm and may indicate child abuse.
research Focal Asymptomatic Hair Loss in an Adolescent: A Case Report
A 13-year-old boy had a rare, stable type of hair loss with little chance of regrowth, but treatment is available for looks.
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 Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Hypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum
Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Identification and characterization of the hamster polyomavirus middle T antigen
The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.