research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
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research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research COEXISTENCE OF TRICHOSTASIS SPINULOSA AND ERUPTIVE VELLUS HAIR CYSTS
Recognizing both trichostasis spinulosa and eruptive vellus hair cysts together is crucial for accurate diagnosis and treatment.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research Endocrinologic Aspects of Hidradenitis Suppurativa
Hormones might affect the skin condition hidradenitis suppurativa, but their exact role is unclear.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Familial Occurrence of Eruptive Vellus Hair Cysts
Eruptive vellus hair cysts can run in families.
research Dlx3 is a crucial regulator of hair follicle differentiation and cycling
Dlx3 is essential for hair growth and regeneration.
research The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
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 Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research H15 Inflammation of the hair follicle: multiple eponyms!
Hidradenitis suppurativa has had many names, but its naming is still not agreed upon.
research Isolated Human Skin Glands and Appendages: Models for Cystic Fibrosis, Acne Vulgaris, Alopecia and Hidradenitis Suppurativa
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 Eph/ephrin signaling in epidermal differentiation and disease
Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
research Epidermis reconstructed from the outer root sheath of human hair follicle on de-epidermized dermis. Effect of retinoic acid
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research STUDY OF CUTANEOUS MANIFESTATIONS IN THYROID DISORDERS
Skin problems are common in thyroid disorders, with dry skin in hypothyroidism and warm, soft skin in hyperthyroidism.
research Trichohyalin-Like Proteins Have Evolutionarily Conserved Roles in the Morphogenesis of Skin Appendages
Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
research Rightly Said Hair Heat Disease!
Hair Heat Disease is caused by wet, oily hair and friction in hot, humid conditions.
research Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia
Biotin improved hair growth and combability in one child with uncombable hair syndrome.
research Immunological Profile of Patients Presenting Down Syndrome and Alopecia Areata
Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Differential sensitivity of epidermal cell subpopulations to β-catenin-induced ectopic hair follicle formation
Sebaceous glands can form new hair follicles when activated, but hair follicle bulges cannot.
research 130 Dermal IgA deposition targeted against Transglutaminase 3 in Dermatitis herpetiformis risk groups
Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.