research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
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360-390 / 1000+ resultsresearch Toe-tourniquet syndrome: a diagnostic dilemma!
Hair or fiber wrapped tightly around a toe can lead to serious injury if not treated quickly.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Schmallenberg virus infection suspected in a calf born to an imported heifer
A calf in Scotland likely had Schmallenberg virus from its mother.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis
Hedgehog signaling is essential for normal sebaceous gland development and affects keratin 6a expression.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Vogt-Koyanagi-Harada Disease: A Narrative Review
Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
research Christmas article: Case of uncombable hair syndrome discovered after publication of article in Ugeskrift for Læger
Digital access to medical info can help identify rare conditions.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research Hair-Thread Tourniquet Syndrome: A Comprehensive Review
Early detection and removal of hair can prevent damage in hair-thread tourniquet syndrome.