research A solitary triangular alopecia
A five-year-old girl has a harmless, unchanging bald patch on her scalp.
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930-960 / 1000+ resultsresearch Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab
Dupilumab improves eczema in Netherton Syndrome but not ichthyosis linearis circumflexa.
research Diaminodiphenyl Sulfone-Induced Hemolytic Anemia and Alopecia in a Case of Linear IgA Bullous Dermatosis
DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
research Ring-shaped Alopecia on the Scalp in a 3-month-old Infant
The infant's hair loss resolved naturally by 20 months without treatment.
research Erosive pustular dermatosis of the scalp and multiple sclerosis: just a coincidence?
EPDS and MS might share an immune-related cause.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis
Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
research 51223 A novel human disease model of alopecia areata to evaluate benefit of the DHODH inhibitor farudodstat
Farudodstat may effectively treat alopecia areata without harmful side effects.
research Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
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 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 Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
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 Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research 1326 Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report.
A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention
Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.
research Human Induced Pluripotent Stem Cell–Derived Ectodermal Precursor Cells Contribute to Hair Follicle Morphogenesis In Vivo
Human stem cells can help form hair follicles in mice.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.