research S3886 Concurrent Management of Crohn's Ileitis and Alopecia Universalis With Upadacitinib
Upadacitinib improved both Crohn's ileitis and alopecia universalis in a patient.
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research A Case of Rhupus with Rowell Syndrome
A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Pilonidal Sinus Disease is Associated with Severe Hidradenitis Suppurativa in a Spanish Cohort
Pilonidal sinus disease is linked to more severe hidradenitis suppurativa.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Trachyonychia in a child with concomitant alopecia areata and lichen planus
A boy's hair, nails, and skin improved after 6 months of steroid treatment.
research Diphencyprone Induced Vitiligo: A Case Report
Diphencyprone can cause unexpected and possibly permanent vitiligo.
research Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) in a 56-Year-Old Patient With Silicone Breast Implants: A Case Report
Removing silicone breast implants may improve symptoms of autoimmune/inflammatory syndrome.
research Isolated Human Skin Glands and Appendages: Models for Cystic Fibrosis, Acne Vulgaris, Alopecia and Hidradenitis Suppurativa
research [A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].
Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
research Is arteriovenous fistula a risk factor for squamous cell carcinoma? Evaluation at a University Hospital
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research Twenty-Nail Dystrophy of Alopecia Areata
"20-nail dystrophy" can have multiple causes.
research LB943 Tofacitinib treatment of inflammatory skin conditions in patients with Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
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 Case report: pemphigus vulgaris in an adolescent
An 18-year-old girl with pemphigus vulgaris needed strong medication and careful treatment due to ineffective initial therapies and side effects.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Lupus Panniculitis as an Initial Manifestation of Systemic Lupus Erythematosus
Early treatment and regular check-ups are crucial for lupus patients to prevent progression and improve outcomes.
research Traumatic anserine folliculosis
Traumatic anserine folliculosis is a skin condition caused by friction, treatable with topical cream and avoiding trauma.
research Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells
Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.
research Progressive alopecia areata during TNF-α inhibition with intralesional corticosteroid failure and subsequent improvement following JAK1 inhibition
JAK1 inhibitor may effectively treat alopecia areata when TNF-α inhibitors and corticosteroids fail.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Kératose pilaire
Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
research Acquired constriction ring syndrome as a cause of inconsolable cry in a child: a case report
A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.