research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
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810-840 / 1000+ results research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
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 G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
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 Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
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 Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research An unusual case of alopecia areata of dental origin
Hair loss from alopecia areata can rarely be caused by dental problems, and treating the dental issue may reverse the hair loss.
research The fundamentals of WNT10A
WNT10A is important for tissue development and linked to various human disorders.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research MOST IMPORTANT SKIN DISEASES OF CHILDRENTheir Diagnosis and Treatment
Children's skin diseases need special care and treatment.
research Onychomadesis associated with childhood hand-foot-mouth disease
Hand-foot-mouth disease may cause nail loss in children.
research Localized Acquired Alopecia over the Mental Area of Chin
A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
research The blastema and epimorphic regeneration in mammals
Mammals might fail to regenerate not because they lack the right cells, but because of how cells respond to their surroundings, and changing this environment could enhance regeneration.
research Genetic interplays between Msx2 and Foxn1 are required for Notch1 expression and hair shaft differentiation
Msx2 and Foxn1 are both crucial for hair growth and health.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.