research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
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research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research A case of acquired trichorrhexis nodosa after applying new hair spray
New hair spray caused a hair shaft disorder.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research A University Center for the Performing Arts
Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
research A Unique Case of Pili Multigemini Complicated by Folliculitis: Unveiling the Intricacies of a Rare Hair-Follicle Disorder
A rare hair disorder with multiple hairs from one follicle was found on a patient's abdomen.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research DEVELOPMENT OF A DESMOCOLLIN-3 ACTIVE MOUSE MODEL RECAPITULATING HUMAN ATYPICAL PEMPHIGUS
Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
research Trichobacteriosis Pubis Presenting as Genital Bromhidrosis
A rare bacterial infection of pubic hair can cause strong genital odor, but trimming hair and using clindamycin can quickly fix it.
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 LB1020 Scurvy: A forgotten illness?
Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research Diffuse idiopathic skeletal hyperostosis in a 33-year-old woman with PCOS and metabolic syndrome: a rare scenario
A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
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.