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510-540 / 1000+ resultsresearch A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research Hair Shaft Fracture in a Young Athlete: A Rare Case Report of Acquired Trichorrhexis Nodosa
A young athlete's fragile hair condition improved by cutting hair and using gentle shampoo.
research 078 The transmembrane protein LRIG1 regulates receptor tyrosine kinases in skin development and homeostasis
LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
research SUN-585 A Case of Atypical Myxedema in Hypothyroidism
A woman with severe hypothyroidism had a rare skin condition usually linked to a different thyroid disease.
research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine
A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
research PSAT330 Excess Iodine Intake From a Cystic Fibrosis Supplement Induces Symptomatic Hypothyroidism
Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
research Genetics of blond hair
Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Hydroxytyrosol Alleviates Acute Liver Injury by Inhibiting the TNF-α/PI3K/AKT Signaling Pathway via Targeting TNF-α Signaling
Hydroxytyrosol helps reduce liver injury by blocking certain inflammation pathways.
research Lichen Spinulosus: Case Report and Review of Literatures
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research Ruxolitinib found to cause eyelash growth: a case report
Ruxolitinib treatment may cause eyelash growth.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Multiple desmoplastic trichoepitheliomas with ossification and cholesterol deposition
A man had rare skin tumors with bone formation and cholesterol deposits.
research Ichthyosis, atopic dermatitis, and alopecia
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions
ODC transgenic mice can model human hair loss with skin lesions.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Monilethrix: A rare hereditary condition
Monilethrix is a rare genetic hair disorder that's hard to treat.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.