research Amyloid-Associated Alopecia: A Reappraisal Including Its Pathophysiology
Amyloid deposits linked to a type of protein may cause a unique pattern of hair loss by disrupting hair growth cycles.
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research Leukemia cutis of the scalp masquerading as 'Kerion' in a child
Leukemia can sometimes appear as unusual skin issues in children.
research Clinical Snippets
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome
research A Rare Presentation of Late Latent Syphilis With Alopecia and Polyarticular Joint Pain in a 17-Year-old Teenager
Syphilis can cause unusual symptoms like hair loss and joint pain, but treatment is effective.
research PA32 Severe lichen planus with co-localization of vitiligo: a rare and unusual case
A 13-year-old boy had both lichen planus and vitiligo, suggesting a possible link between the two conditions.
research Lepromatous Leprosy in a Renal Transplant Recipient
A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
research P50 Difficult to diagnose SLE manifestations associated with cardiac arrest, myocarditis, chronic pericarditis, polyneuropathy
Accurate diagnosis of SLE requires extensive testing due to its complex symptoms.
research Trichilemmal cyst of the neck: case report and review of the literature
A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child
Stress may cause sudden hair whitening in children.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research Neuropsychiatric lupus in a Nigerian teenager
A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research An Uncommon Presentation of Tumid Lupus Erythematosus Manifesting As Annular, Non-scarring Alopecia on the Scalp
Tumid lupus erythematosus can cause non-scarring hair loss on the scalp and requires careful diagnosis.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Scleroderma and L-tryptophan: A possible explanation of the eosinophilia-myalgia syndrome
Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.