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240-270 / 1000+ resultsresearch A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research C3-C4 shingles post haematopoietic stem-cell transplantation
A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
research Alisertib is active as single agent in recurrent atypical teratoid rhabdoid tumors in 4 children
Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research A linear and reticulate crusted keratotic papulopustular eruption: a rare presentation of PRIDE (Papulopustules and/or paronychia, Regulatory abnormalities of hair growth, Itching, and Dryness due to Epidermal growth factor receptor inhibitors) complex
A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Alopecia Universalis in a Multiple Sclerosis Patient After Switching From Rituximab to Ocrelizumab: A Case Report
Ocrelizumab may cause total body hair loss in some patients.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Severe pityriasis rubra pilaris complicated with Kaposi's varicelliform eruption and cutaneous MRSA infection case report
Isotretinoin effectively improved severe pityriasis rubra pilaris with complications.
research Proteomic Profiling of Central Centrifugal Cicatricial Alopecia Reveals Role of Humoral Immune Response Pathway and Metabolic Dysregulation
CCCA involves immune response and metabolism issues, suggesting new treatment options.
research Canine cutaneous epitheliotropic T-cell lymphoma with vesiculobullous lesions resembling human bullous mycosis fungoides
Vesiculobullous lesions should be considered part of canine cutaneous epitheliotropic T-cell lymphoma.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Dormant tumor cells in ret transgenic mouse melanoma model and their interaction with memory T cells
Dormant melanoma cells in mice interact minimally with memory T cells due to a suppressive tumor environment.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A Localized Rash in a 3-Year-Old Child
The child was diagnosed with a skin condition involving inflamed hair follicles.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Pediatric Clinical Trial Program in Progress: A Phase 3 Study and Long-term Extension Study to Evaluate the Efficacy and Safety of Ritlecitinib in Children 6 to <12 years of Age With Severe Alopecia Areata
Ritlecitinib is being tested for safety and effectiveness in young children with severe alopecia areata.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Alopecia Universalis and Chronic Graft-vs-Host Disease Treated With Ruxolitinib
Ruxolitinib may help treat hair loss and symptoms in patients with chronic graft-versus-host disease.
research Bullous mycosis fungoides with large cell transformation: a fatal outcome following brentuximab treatment
Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research PA11 A rare case of a severe papulopustular dermatosis secondary to a germline EGFR mutation
A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.