research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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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 Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
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 Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research MIM and Cortactin Antagonism Regulates Ciliogenesis and Hedgehog Signaling
MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation
TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Alopecia in IL-10-deficient mouse pups is c-kit-dependent and can be triggered by iron deficiency
Hair loss in certain young mice is linked to a specific gene and can be caused by lack of iron.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Wnt target gene Ascl4 is dispensable for skin appendage development
The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research A Chemically Defined Culture for Tooth Reconstitution
A new culture system can grow tooth-like structures from dental cells but can't yet develop roots.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research ASH2L mediates epidermal differentiation and hair follicle morphogenesis via H3K4me3 modification
ASH2L is essential for skin and hair development.
research Origin, Clinical Presentation, and Diagnosis of Facial Hypermelanoses
Facial dark spots can be caused by the sun, genetics, makeup, or medicine, and are diagnosed by patient history and skin tests.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Abnormal gene expression related to keratin causes hair loss in certain mice.
research Late onset nevus comedonicus of scalp: a rare site for an uncommon condition
A rare skin condition appeared on a 19-year-old woman's scalp.