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.
Search
for
Sort by
Research
60-90 / 1000+ resultsresearch Hair tourniquet syndrome: revisited
Hair tourniquet syndrome can cause serious harm if not treated quickly, especially in infants.
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.
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 Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Commonly Misdiagnosed Rare Condition – Toe Tourniquet Syndrome – Literature Review
Toe Tourniquet Syndrome is often misdiagnosed.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Hair-Thread Tourniquet Syndrome: A Comprehensive Review
Early detection and removal of hair can prevent damage in hair-thread tourniquet syndrome.
research Temporal Triangular Alopecia: Report of Five Cases in Asian Children
Temporal triangular alopecia is a non-scarring hair loss seen in some Asian children.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
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 Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research Temporal Triangular Alopecia: Report of an African‐American Child with TTA Misdiagnosed as Refractory Tinea Capitis
A child was initially wrongly diagnosed with a fungal scalp infection but actually had a non-scarring hair loss condition called Temporal Triangular Alopecia.
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 Hair tourniquet syndrome of toes and fingers in infants
Hair tourniquet syndrome in infants can be treated successfully with immediate hair removal.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Hair Tourniquet Syndrome of the Toe: Report of 2 New Cases
Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research - Tumor necrosis factor-alpha inhibitor associated psoriasiform alopecia (drug-induced psoriasiform alopecia)
Some patients on anti-TNF drugs experience a type of hair loss called TAIAPA.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Temporal Triangular Alopecia – A Diagnostic Dilemma: Case Series of Six Patients
Trichoscopy effectively diagnoses temporal triangular alopecia in children.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Hair tourniquet syndrome
Hair tourniquet syndrome is a rare condition where hair wraps around an infant's body part, needing quick removal to prevent damage.
research Variable Clinical Features of Temporal Triangular Alopecia
Temporal triangular alopecia may be linked to sebaceous nevus and shows a new pinkish background feature.
research Symptoms of ASIA Syndrome in a Female Patient with Tattoos – A Case Report
Tattoos may trigger autoimmune symptoms in some people.