research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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630-660 / 1000+ results research The clinical features and histopathologic patterns of folliculotropic mycosis fungoides in a series of 38 cases
Recognizing diverse presentations of folliculotropic mycosis fungoides is crucial to avoid diagnostic errors.
research Cicatricial alopecia: classification and histopathology
Early detection and histopathology are crucial to prevent permanent hair loss in cicatricial alopecia.
research A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
research LB708 ILC1-like innate lymphocytes in human autoimmunity: Lessons from Alopecia Areata
ILC1-like cells can cause alopecia areata by disrupting hair follicle immunity, suggesting a new treatment approach.
research P‐59 Three cases of opportunistic dermatoses associated with internal diseases in cats
Cats with internal diseases can develop skin issues that may require specific treatments.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Coexistence of angiolymphoid hyperplasia with eosinophilia and pulmonary neoplasia
A man with both skin lesions and lung cancer improved quickly with chemotherapy, suggesting the skin condition might be a reaction to immune system injury.
research Multiple follicular abnormalities in a 1‐year old cat consistent with basaloid follicular hamartomas
A one-year-old cat had multiple benign skin tumors similar to those known in humans.
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 A novel immune competent murine hypertrophic scar contracture model: A tool to elucidate disease mechanism and develop new therapies
The model helps understand scar contraction and develop new treatments.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Refractory dermatomyositis–systemic lupus erythematosus overlap syndrome and response to tofacitinib
Tofacitinib successfully treated a woman's severe symptoms from a rare autoimmune condition.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
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 Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
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 Cylindroma as Tumor of Hair Follicle Origin
Cylindromas likely originate from hair follicle stem cells, not sweat glands.
research Current management strategies for cutaneous T-cell lymphoma
The document concludes that treatment for cutaneous T-cell lymphoma should be customized to each patient's disease stage, balancing benefits and side effects, with no cure but many patients living long lives.
research Alopecia X in a cloned Pomeranian dog
Alopecia X in Pomeranians is likely genetic, not environmental.
research Innate lymphoid cells type 1 may be new, non-antigen-specific player in the pathogenesis of alopecia areata
Innate lymphoid cells type 1 may contribute to alopecia areata by damaging hair follicles.
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research Trichodiscoma. A Benign Tumor Related to Haarschibe (Hair Disk)
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Expression patterns of hair and epithelial keratins and transcription factors HOXC13, LEF1, and β‐catenin in a malignant pilomatricoma: a histological and immunohistochemical study
The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS
Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.