research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
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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.
research Tourniquet syndrome: Interest of a systematic analysis of families’ social conditions to detect neglect situations
Checking family social conditions in tourniquet syndrome cases can help find neglect.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Diagnosis of Trichothiodystrophy in 2 Siblings
Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Serious Delayed Hair Toe Tourniquet Syndrome with Bone Erosion and Flexor Tendon Lesion
A baby's toe was severely damaged by a hair tourniquet, leading to bone and tendon damage, but improved after surgery and treatment.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Temporal triangular alopecia
Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
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.
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 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 A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Hair Tourniquet Syndrome, A missed diagnosis: Review of Literature
Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
research Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Toe-tourniquet syndrome: a diagnostic dilemma!
Hair or fiber wrapped tightly around a toe can lead to serious injury if not treated quickly.
research Hair-thread tourniquet syndrome: a case report and review of treatment
Hair-thread tourniquet syndrome needs more awareness and discussion in dermatology.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Hair-Thread Tourniquet Syndrome; Emergent Diagnosable Condition
Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.
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 Clinical and trichoscopic characteristics of temporal triangular alopecia: A multicenter study
Temporal triangular alopecia is a non-scarring hair loss in children, often linked to other health conditions.
research Hair-Thread Tourniquet Syndrome: A Case Report and Literature Review
Hair-thread Tourniquet Syndrome, where hair or thread tightly wraps around a body part, is not rare and requires early detection to prevent serious damage.
research Exploring the Dermoscopic Patterns in Tuberous Sclerosis
Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.