research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
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660-690 / 1000+ results research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research PRIDE syndrome associated with panitumumab treatment – case report and literature review
A man's severe skin reaction from cancer treatment improved with early diagnosis and proper medication.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Alopecia Areata Associated with Thymoma Presenting as a Diffuse Pleural Dissemination Mimicking Mesothelioma: Rare Concomitant Presentation
A rare case showed hair regrowth after chemotherapy for thymoma, suggesting a link between alopecia areata and thymoma.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Alopecia Areata Universalis After Phenobarbital-Induced Anti-Convulsant Hypersensitivity Syndrome
A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Tamoxifen-associated hirsutism: an unusual side effect in a 5-year-old girl with McCune-Albright syndrome
A 5-year-old girl with McCune-Albright syndrome grew abnormal hair due to the drug tamoxifen.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Trichodysplasia spinulosa: a polyomavirus infection specifically targeting follicular keratinocytes in immunocompromised patients
Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
research Alopecia areata incognita
Alopecia Areata Incognita causes widespread hair thinning, and treatment with systemic corticosteroids and psychiatric support can lead to remission.
research Synchronous pancreas and gallbladder cancer with concomitant alopecia totalis
A rare case linked complete hair loss to both pancreas and gallbladder cancer.
research A case of loose anagen hair syndrome associated with trichotillomania in a 14-year-old girl
A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Prolonged Drug-Induced Hypersensitivity Syndrome/DRESS With Alopecia Areata and Autoimmune Thyroiditis
A severe medication reaction required long treatment and led to hair loss and thyroid issues.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research A case of acquired trichorrhexis nodosa after applying new hair spray
New hair spray caused a hair shaft disorder.
research Madarosis and facial keratinaceous spines
Reducing immunosuppression and using antiviral creams improved the woman's skin condition.
research Loose anagen hair syndrome
research Hair whitening in a patient with psoriasis on adalimumab reversed after switching to ixekizumab
Switching from adalimumab to ixekizumab improved a patient's psoriasis and reversed hair whitening.
research Three cases of androgen‐dependent disease associated with myotonic dystrophy
Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.