research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
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research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Coexistence of Woolly Hair and Monilethrix: A Cases Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research Clinical and immunological manifestations in 151 SLE patients living in Dubai
SLE symptoms in Dubai are similar to those in other Arab and Western countries.
research Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Dehydrogenase, Cortisol, Dopamine, Zinc, and Vitamin D3 in Iraqi Patients with Polycystic Ovary Syndrome
PCOS patients have higher LDH and lower cortisol, dopamine, zinc, and vitamin D3, which may contribute to their symptoms and obesity.
research Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
research Multiple desmoplastic trichoepitheliomas with ossification and cholesterol deposition
A man had rare skin tumors with bone formation and cholesterol deposits.
research 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.
research Trichodysplasia spinulosa: A benign adnexal proliferation with follicular differentiation associated with polyomavirus
Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Clinical and trichoscopic features of scalp discoid lupus erythematosus in skin of colour: A retrospective analysis
Scalp discoid lupus erythematosus shows two distinct patterns in skin of color.
research Dermoscopic Features of Pili Annulati: Features of PA
Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research A RARE PRESENTATION OF AN OVERLAP CONNECTIVITY AS PURPURA FULMINANS: A CASE REPORT
Purpura fulminans can signal underlying autoimmune disorders, not just infections.