research Sarcoidosis in Polo Ponies: Case Study of Argentine-Cross Breeds
Argentine-cross polo ponies commonly develop sarcoid tumors with distinct types and histopathological features.
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660-690 / 1000+ results research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Vitiligo-like depigmentation with perifollicular pigment retention in systemic sclerosis treated successfully with suplatast tosilate
Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
research Acral lymphomatoid papulosis
A woman had a rare skin condition with recurring painful nodules that heal in 6 weeks, often without needing treatment.
research Lipedematous Scalp Occurring in Two Female Siblings: Further Evidence for a Genetic Role
Lipedematous scalp may have a genetic link and could be associated with psychiatric conditions.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research A toddler case of keratosis follicularis squamosa (Dohi) successfully treated with salicylic acid ointment
Salicylic acid ointment effectively treated a toddler's skin condition.
research Unraveling a Rare Case: Diarrhea, Alopecia, and Polyposis
Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
research (16) The Graham-Little syndrome Follicular keratosis with cicatricial alopecia
Graham-Little syndrome causes scarring hair loss and skin bumps.
research Trichoscopy of twisted hairs in a patient with unilateral ecchymoses: A case of modern-day scurvy
Scurvy, caused by vitamin C deficiency, can occur in people with restrictive diets and can be diagnosed by twisted hair shafts.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
research Hair Tourniquet Syndrome, A missed diagnosis: Review of Literature
Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Rapidly growing hand nodule
A 69-year-old woman has a fast-growing hand lesion that didn't improve with salicylic acid.
research S100A4/Nonmuscle Myosin IIA/p53 Axis Contributes to Aggressive Features in Ovarian High-Grade Serous Carcinoma
S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Pseudopelade of Brocq: a clinico-therapeutic challenge!
Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.