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.
Search
for
Sort by
Research
180-210 / 924 results 
research Understanding Cellular and Molecular Responses in the Treatment of Pediatric Lymphatic Anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research Pregnancy and Neonatal Outcome with Maternal Exposure to Finasteride: Case Series
Exposure to the hair loss drug finasteride during pregnancy can cause genital anomalies in male babies, but not in female babies. It's best to avoid this drug in women who could potentially become pregnant.
research Regulation of Masculinization: Androgen Signaling for External Genitalia Development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Exposure to Gamma-Rays at the Telogen Phase of the Hair Cycle Inhibits Hair Follicle Regeneration at the Anagen Phase in Mice
Gamma-rays exposure during the resting phase of hair growth can damage hair regeneration and color in mice.
research Encephalocraniocutaneous Lipomatosis: Congenital Alopecia Treatment in a Rare Neurocutaneous Syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Skin Manifestations of Bardet-Biedl Syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Developmental Toxicity of Levo-Alpha-Acetylmethadol (LAAM) in Tolerant Rats
LAAM caused developmental toxicity in tolerant rats without causing birth defects.
research Telogen Hair Loss and Androgenetic-Like Alopecia in GAPO Syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research Delleman Syndrome or Haberland Syndrome? Diagnostic Criteria and Clinical Features
The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Familial Aggregation of Phenotypic Expression of Premature Hair Hypopigmentation in the Craniofacial Region
Premature hair graying in the face may be influenced by genetics and environment.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Differential Diagnosis of Hair Loss in Children
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research Polarization Microscopy of Hair in Acrodermatitis Enteropathica
Zinc therapy improved hair health in a girl with acrodermatitis enteropathica.
research Light Microscopy of the Hair: A Simple Tool to Untangle Hair Disorders
Light microscopy is useful for diagnosing different hair disorders.
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Vulvovaginal Involvement in Netherton Syndrome: A Case Report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research Isotretinoin-Unresponsive Acne as a Sign of a Congenital Disorder: A Case of 21-Hydroxylase Deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Nevus Comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Hair and Nail Relationship: A Comparative Study
Hair and nails are similar keratin structures with different shapes and growth, affected by the same diseases and environmental factors.
research NEMO Syndrome (Incontinentia Pigmenti) and Systemic Lupus Erythematosus: A New Disease Association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Skin and Hair Abnormalities of Cantu Syndrome: A Congenital Hypertrichosis Due to a Genetic Alteration Mimicking the Pharmacological Effect of Minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.