research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
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research Hirsutism and virilisation.
Hirsutism is common body hair growth due to genetics and hormones, and while not a disease, it can be distressing; virilisation includes hirsutism with other male traits and needs medical attention.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Transient bullous dermolysis of the newborn
The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Ectopic production of hair keratin constitutes Rushton’s hyaline bodies in association with hematogenous deposits
Rushton's hyaline bodies form from hair keratin and blood substances.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research The Rapunzel syndrome: is it an Asian problem? (case report and review of literature)
Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
research Bilateral morphea en coup de sabre: a rare presentationof linear morphea
A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Ox40-Cre–mediated deletion of BRD4 reveals an unexpected phenotype of hair follicle stem cells in alopecia
Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research 8800 A Case of Hypopituitarism Due to Sheehan Syndrome
Sheehan syndrome can cause hormone deficiencies after childbirth, but treatment can improve symptoms.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Fibrosing alopecia in a pattern distribution in two brothers with pili multigemini
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
research Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
research Temporal triangular alopecia and a review of 52 past cases
Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Basal cell carcinoma — molecular biology and potential new therapies
Blocking Hedgehog signaling offers new treatment options for advanced basal cell carcinoma.
research Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.