research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
Search
for
Sort by
Research
660-690 / 1000+ results 
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Ectopic sebaceous gland: a developmental anomaly
A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
research Carbon finance opportunities: There are excellent funding opportunities available to hydro developers in the new Carbon market
Nevus comedonicus can appear later in life and affect both eyelids.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research A new familial presentation of dissecting cellulitis: The genetic implications on scarring alopecias
Dissecting cellulitis may have genetic links and can cause permanent hair loss.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research A case of temporal triangular alopecia
A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
research Halberd Flap for Combined Nose Tip and Columella Repair
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Congenital triangular alopecia
Congenital triangular alopecia is more common than thought and some treatments can be beneficial for appearance concerns.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Hypertrichosis and Congenital Anomalies Associated With Maternal Use of Minoxidil
Minoxidil use during pregnancy can cause excessive hair growth and multiple birth defects in the baby.
research Disorders linked to insufficient androgen action in male children
Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research Disorders in Male Sexual Differentiation Due to 5α-Reductase-2 Deficiency
5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia.
Genetic variants in specific genes cause a type of hair loss.
research Hair tourniquet syndrome in an infant
A baby's toe was saved from serious damage by quickly removing a hair wrapped tightly around it.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia
Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Abstract 21: Preoperative Versus Postoperative Language Specialization in Infants with Sagittal Craniosynostosis: An ERP Study
Surgery may help infants with sagittal craniosynostosis develop more typical language processing.