research Sweet Syndrome as the Presenting Symptom of Relapsed Hairy Cell Leukemia
Sweet syndrome can be the only sign of hairy cell leukemia relapse.
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600-630 / 1000+ results research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
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 Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
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 Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research Abnormal inner root sheath of the hair follicle in the loose anagen hair syndrome: An ultrastructural study
Loose anagen hair syndrome is caused by structural abnormalities in the hair follicle's inner root sheath.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.